SBNO2 strawberry notch homolog 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SBNO2provided by HGNC
Official Full Name: strawberry notch homolog 2provided by HGNC
Primary source: HGNC:HGNC:29158
See related: Ensembl:ENSG00000064932 MIM:615729; AllianceGenome:HGNC:29158
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SNO; STNO; KIAA0963
Summary: Predicted to enable chromatin DNA binding activity and histone binding activity. Involved in several processes, including cellular response to interleukin-6; macrophage activation involved in immune response; and negative regulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in appendix (RPKM 17.5), spleen (RPKM 13.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (1107638..1174268, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (1072304..1145101, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (1107637..1174267, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

SBNO2 is a critical mediator of STAT3-driven hematological malignancies.
Title: SBNO2 is a critical mediator of STAT3-driven hematological malignancies.
Study of Strawberry Notch homolog 1 and 2 expression in human glioblastoma.
Title: Study of Strawberry Notch homolog 1 and 2 expression in human glioblastoma.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
The SBNO2 is component of the pathways that contribute to the downstream anti-inflammatory effects of IL-10.
Title: Cutting edge: A transcriptional repressor and corepressor induced by the STAT3-regulated anti-inflammatory signaling pathway.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 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
Tat	tat	HIV-1 Tat upregulates the expression of strawberry notch homolog 2 (SBNO2) in human primary T 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

G21495 (e-PCR)
- UniSTS:26630

STS-R96945 (e-PCR)
- UniSTS:49433

MARC_21175-21176:1027090938:1 (e-PCR)
- UniSTS:268501

Bdyc2h09 (e-PCR)
- UniSTS:61944

RH120143 (e-PCR)
- UniSTS:132348

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in bone trabecula morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-11	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to interleukin-6	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to interleukin-6	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to leukemia inhibitory factor	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in macrophage activation involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in macrophage activation involved in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoclast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in osteoclast fusion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein strawberry notch homolog 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.

mRNA and Protein(s)

NM_001100122.2 → NP_001093592.1 protein strawberry notch homolog 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, which produces a unique 5' UTR and translation initiation at a unique start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

AI433817, AK125139, BG332816, BP315965

Consensus CDS

CCDS45895.1

UniProtKB/TrEMBL

K7ES28

Related

ENSP00000400762.1, ENST00000438103.6

Conserved Domains (2) summary

pfam13871
Location:675 → 953

Helicase_C_4; C-terminal domain on Strawberry notch homologue

pfam13872
Location:161 → 448

AAA_34; P-loop containing NTP hydrolase pore-1
NM_014963.3 → NP_055778.2 protein strawberry notch homolog 2 isoform 1

See identical proteins and their annotated locations for NP_055778.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB023180, AI433817, AK125139, BG332816, BQ950129, DC400108

Consensus CDS

CCDS45894.1

UniProtKB/Swiss-Prot

A8K8P2, B3KWJ1, O75257, Q3KQX0, Q8TEM0, Q9Y2G9

UniProtKB/TrEMBL

K7ES28

Related

ENSP00000354733.2, ENST00000361757.8

Conserved Domains (2) summary

pfam13871
Location:732 → 1010

Helicase_C_4; C-terminal domain on Strawberry notch homologue

pfam13872
Location:218 → 505

AAA_34; P-loop containing NTP hydrolase pore-1

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

1107638..1174268 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527804.4 → XP_011526106.1 protein strawberry notch homolog 2 isoform X1

UniProtKB/TrEMBL

K7ES28

Conserved Domains (2) summary

pfam13871
Location:732 → 1010

Helicase_C_4; C-terminal domain on Strawberry notch homologue

pfam13872
Location:218 → 505

AAA_34; P-loop containing NTP hydrolase pore-1
XM_047438466.1 → XP_047294422.1 protein strawberry notch homolog 2 isoform X2
XM_047438467.1 → XP_047294423.1 protein strawberry notch homolog 2 isoform X3