NOD2 nucleotide binding oligomerization domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOD2provided by HGNC
Official Full Name: nucleotide binding oligomerization domain containing 2provided by HGNC
Primary source: HGNC:HGNC:5331
See related: Ensembl:ENSG00000167207 MIM:605956; AllianceGenome:HGNC:5331
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CD; ACUG; BLAU; IBD1; YAOS; BLAUS; NLRC2; NOD2B; CARD15; CLR16.3; PSORAS1
Summary: This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Expression: Broad expression in bone marrow (RPKM 3.3), appendix (RPKM 2.5) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q12.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (50693606..50733075)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (56491240..56530709)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (50727517..50766986)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Systemic Review and Meta-analysis on Natural Resistance-associated Macrophage Protein 1 (3'-Untranslated Region) and Nucleotide-binding Oligomerization Domain-2 (rs8057341) Polymorphisms and Leprosy Susceptibility in Asian and Caucasian Populations.
Title: A Systemic Review and Meta-analysis on Natural Resistance-associated Macrophage Protein 1 (3'-Untranslated Region) and Nucleotide-binding Oligomerization Domain-2 (rs8057341) Polymorphisms and Leprosy Susceptibility in Asian and Caucasian Populations.
E3 ligase SOCS3 regulates NOD2 expression by ubiquitin proteasome system in lung cancer progression.
Title: E3 ligase SOCS3 regulates NOD2 expression by ubiquitin proteasome system in lung cancer progression.
Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.
Title: Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.
The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review.
Title: The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review.
NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early-Onset Inflammatory Bowel Disease.
Title: NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early-Onset Inflammatory Bowel Disease.
Presence of NOD2 mutations is not associated with hepatic or systemic hemodynamic abnormalities of cirrhosis.
Title: Presence of NOD2 mutations is not associated with hepatic or systemic hemodynamic abnormalities of cirrhosis.
Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.
Title: Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.
Influence of NOD2 risk variants on hepatic encephalopathy and association with inflammation, bacterial translocation and immune activation.
Title: Influence of NOD2 risk variants on hepatic encephalopathy and association with inflammation, bacterial translocation and immune activation.
Genetic Polymorphisms of NOD2 and ATG16L1 in Different Types of Digestive Tract Inflammation.
Title: Genetic Polymorphisms of NOD2 and ATG16L1 in Different Types of Digestive Tract Inflammation.
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
Title: Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.

Submit: New GeneRIF Correction See all GeneRIFs (696)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Blau syndrome MedGen: C5201146 OMIM: 186580 GeneReviews: Not available	not available
Inflammatory bowel disease 1 MedGen: CN260071 OMIM: 266600 GeneReviews: Not available	not available
Yao syndrome MedGen: C4310620 OMIM: 617321 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association study of leprosy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Systematic association mapping identifies NELL1 as a novel IBD disease gene. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr upregulates the gene expression of NOD2 in human monocyte-derived dendritic cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S514 (e-PCR)
- UniSTS:20238

D16S419 (e-PCR), detects polymorphism
- UniSTS:21834

D16S503 (e-PCR)
- UniSTS:16470

D16S3393 (e-PCR), detects polymorphism
- UniSTS:14682

D16S411 (e-PCR), detects polymorphism
- UniSTS:50013

D16S2874 (e-PCR)
- UniSTS:153444

D16S2885 (e-PCR)
- UniSTS:153455

PMC356064P1 (e-PCR)
- UniSTS:273265

D16S267 (e-PCR), detects polymorphism
- UniSTS:146811

G67955 (e-PCR)
- UniSTS:225676

G67947 (e-PCR)
- UniSTS:225677

G67948 (e-PCR)
- UniSTS:225678

G67949 (e-PCR)
- UniSTS:225679

G67950 (e-PCR)
- UniSTS:225680

G67951 (e-PCR)
- UniSTS:225681

G67952 (e-PCR)
- UniSTS:225682

G67946 (e-PCR)
- UniSTS:225684

D16S408 (e-PCR), detects polymorphism
- UniSTS:24999

D16S2730 (e-PCR)
- UniSTS:153300

G09530 (e-PCR)
- UniSTS:6367

D16S409 (e-PCR), detects polymorphism
- UniSTS:20195

D16S753 (e-PCR), detects polymorphism
- UniSTS:26598

D16S3089 (e-PCR), detects polymorphism
- UniSTS:75496

D16S415 (e-PCR)
- UniSTS:30459

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables CARD domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables Hsp90 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables muramyl dipeptide binding	IDA Inferred from Direct Assay more info	PubMed
enables pattern recognition receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidoglycan binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in antibacterial innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in biosynthetic process of antibacterial peptides active against Gram-positive bacteria	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to muramyl dipeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to muramyl dipeptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in cellular response to peptidoglycan	IEA Inferred from Electronic Annotation more info
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of biotic stimulus	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within detection of muramyl dipeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of muramyl dipeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in host-mediated regulation of intestinal microbiota composition	ISS Inferred from Sequence or Structural Similarity more info
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in innate immune response in mucosa	IEA Inferred from Electronic Annotation more info
involved_in intestinal stem cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of gastrointestinal epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T cell mediated immunity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response to antigenic stimulus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-12 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-18 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-2 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of macrophage apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of toll-like receptor 2 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type II interferon production	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production involved in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of dendritic cell antigen processing and presentation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendritic cell cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gamma-delta T cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of humoral immune response mediated by circulating immunoglobulin	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of interleukin-10 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-12 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-17 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-8 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of monocyte chemotactic protein-1 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein K63-linked ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of stress-activated MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type 2 immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of xenophagy	IEA Inferred from Electronic Annotation more info
involved_in regulation of appetite	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inflammatory response	IC Inferred by Curator more info	PubMed
involved_in regulation of neutrophil chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
involved_in response to exogenous dsRNA	IEA Inferred from Electronic Annotation more info
involved_in response to muramyl dipeptide	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to muramyl dipeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to muramyl dipeptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in stress-activated MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in temperature homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in toll-like receptor 2 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in xenophagy	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in extrinsic component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nucleotide-binding oligomerization domain-containing protein 2

Names: NLR family, CARD domain containing 2; NOD-like receptor C2; caspase recruitment domain family, member 15; caspase recruitment domain protein 15; caspase recruitment domain-containing protein 15; inflammatory bowel disease protein 1; nucleotide-binding oligomerization domain 2; nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007508.1 RefSeqGene

Range

5001..40939

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_177

mRNA and Protein(s)

NM_001293557.2 → NP_001280486.1 nucleotide-binding oligomerization domain-containing protein 2 isoform 2

See identical proteins and their annotated locations for NP_001280486.1

Status: REVIEWED

Source sequence(s)

AC007608, AC007728

Consensus CDS

CCDS86525.1

UniProtKB/Swiss-Prot

Q9HC29

Conserved Domains (6) summary

cd08788
Location:107 → 187

CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2

sd00033
Location:793 → 817

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:737 → 764

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:266 → 436

NACHT; NACHT domain

cl14633
Location:7 → 92

DD; Death Domain Superfamily of protein-protein interaction domains

cl29113
Location:740 → 1005

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
NM_001370466.1 → NP_001357395.1 nucleotide-binding oligomerization domain-containing protein 2 isoform 2

Status: REVIEWED

Source sequence(s)

AC007608, AC007728

Consensus CDS

CCDS86525.1

Related

ENSP00000495993.1, ENST00000647318.2

Conserved Domains (6) summary

cd08788
Location:107 → 187

CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2

sd00033
Location:793 → 817

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:737 → 764

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:266 → 436

NACHT; NACHT domain

cl14633
Location:7 → 92

DD; Death Domain Superfamily of protein-protein interaction domains

cl29113
Location:740 → 1005

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
NM_022162.3 → NP_071445.1 nucleotide-binding oligomerization domain-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_071445.1

Status: REVIEWED

Source sequence(s)

AC007608, AC007728

Consensus CDS

CCDS10746.1

UniProtKB/Swiss-Prot

E2JEQ6, Q96RH5, Q96RH6, Q96RH8, Q9HC29

Related

ENSP00000300589.2, ENST00000300589.6

Conserved Domains (7) summary

COG4886
Location:795 → 1040

LRR; Leucine-rich repeat (LRR) protein [Transcription]

cd00116
Location:767 → 1032

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd08788
Location:134 → 214

CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2

sd00033
Location:820 → 844

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:764 → 791

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:293 → 463

NACHT; NACHT domain

cl14633
Location:34 → 119

DD; Death Domain Superfamily of protein-protein interaction domains

RNA

NR_163434.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007608, AC007728

Related

ENST00000646677.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

50693606..50733075

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721242.5 → XP_006721305.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X1

Conserved Domains (7) summary

COG4886
Location:768 → 985

LRR; Leucine-rich repeat (LRR) protein [Transcription]

cd00116
Location:753 → 977

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd08788
Location:107 → 187

CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2

sd00033
Location:793 → 817

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:737 → 752

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:266 → 436

NACHT; NACHT domain

cl14633
Location:7 → 92

DD; Death Domain Superfamily of protein-protein interaction domains
XM_047434453.1 → XP_047290409.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X2
XM_017023536.2 → XP_016879025.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X3

Conserved Domains (4) summary

cd00116
Location:545 → 810

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:598 → 622

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:542 → 569

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:71 → 241

NACHT; NACHT domain
XM_017023537.2 → XP_016879026.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X3

Conserved Domains (4) summary

cd00116
Location:545 → 810

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:598 → 622

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:542 → 569

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:71 → 241

NACHT; NACHT domain
XM_047434457.1 → XP_047290413.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X8

UniProtKB/TrEMBL

A0A286YF65
XM_047434456.1 → XP_047290412.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X7

UniProtKB/TrEMBL

A0A286YF65

Related

ENSP00000493088.1, ENST00000641284.2
XM_047434455.1 → XP_047290411.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X6

UniProtKB/TrEMBL

A0A286YF65
XM_011523260.4 → XP_011521562.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X6

See identical proteins and their annotated locations for XP_011521562.1

UniProtKB/TrEMBL

A0A286YF65

Conserved Domains (3) summary

cd08787
Location:7 → 92

CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1

cd08788
Location:107 → 187

CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2

pfam05729
Location:266 → 436

NACHT; NACHT domain
XM_006721243.5 → XP_006721306.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X5

See identical proteins and their annotated locations for XP_006721306.1

UniProtKB/TrEMBL

A0A286YF65

Conserved Domains (3) summary

cd08787
Location:7 → 92

CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1

cd08788
Location:107 → 187

CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2

pfam05729
Location:266 → 436

NACHT; NACHT domain
XM_011523261.3 → XP_011521563.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X4

See identical proteins and their annotated locations for XP_011521563.1

UniProtKB/TrEMBL

A0A286YF65

Conserved Domains (3) summary

cd08787
Location:7 → 92

CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1

cd08788
Location:107 → 187

CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2

pfam05729
Location:266 → 436

NACHT; NACHT domain
XM_047434452.1 → XP_047290408.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X2
XM_047434454.1 → XP_047290410.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X2

RNA

XR_007064895.1 RNA Sequence
XR_007064894.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

56491240..56530709

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054313608.1 → XP_054169583.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X1
XM_054313610.1 → XP_054169585.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X2
XM_054313612.1 → XP_054169587.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X3
XM_054313613.1 → XP_054169588.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X3
XM_054313619.1 → XP_054169594.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X8

UniProtKB/TrEMBL

A0A286YF65
XM_054313618.1 → XP_054169593.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X7

UniProtKB/TrEMBL

A0A286YF65
XM_054313617.1 → XP_054169592.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X6

UniProtKB/TrEMBL

A0A286YF65
XM_054313616.1 → XP_054169591.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X6

UniProtKB/TrEMBL

A0A286YF65
XM_054313615.1 → XP_054169590.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X5

UniProtKB/TrEMBL

A0A286YF65
XM_054313614.1 → XP_054169589.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X4

UniProtKB/TrEMBL

A0A286YF65
XM_054313609.1 → XP_054169584.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X2
XM_054313611.1 → XP_054169586.1 nucleotide-binding oligomerization domain-containing protein 2 isoform X2