TRAF3IP2 TRAF3 interacting protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRAF3IP2provided by HGNC
Official Full Name: TRAF3 interacting protein 2provided by HGNC
Primary source: HGNC:HGNC:1343
See related: Ensembl:ENSG00000056972 MIM:607043; AllianceGenome:HGNC:1343
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: ACT1; CIKS; C6orf2; C6orf4; C6orf5; C6orf6; CANDF8; PSORS13
Summary: This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
Expression: Ubiquitous expression in endometrium (RPKM 6.1), stomach (RPKM 4.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q21

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (111555381..111605878, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (112738381..112788887, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (111876584..111927081, complement)

Chromosome 6 - NC_000006.12 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
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?

NF-kappaB Activator 1 downregulation in macrophages activates STAT3 to promote adenoma-adenocarcinoma transition and immunosuppression in colorectal cancer.
Title: NF-κB Activator 1 downregulation in macrophages activates STAT3 to promote adenoma-adenocarcinoma transition and immunosuppression in colorectal cancer.
alphaCT1 peptide sensitizes glioma cells to temozolomide in a glioblastoma organoid platform.
Title: αCT1 peptide sensitizes glioma cells to temozolomide in a glioblastoma organoid platform.
TRAF3IP2 regulated by FOXO4 affects fibroblast proliferation, migration, and extracellular matrix deposition in keloid through the TGF-beta1/Smad pathway.
Title: TRAF3IP2 regulated by FOXO4 affects fibroblast proliferation, migration, and extracellular matrix deposition in keloid through the TGF-β1/Smad pathway.
A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients.
Title: A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients.
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.
Title: A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.
Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.
Title: Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.
Fusion transcripts FYN-TRAF3IP2 and KHDRBS1-LCK hijack T cell receptor signaling in peripheral T-cell lymphoma, not otherwise specified.
Title: Fusion transcripts FYN-TRAF3IP2 and KHDRBS1-LCK hijack T cell receptor signaling in peripheral T-cell lymphoma, not otherwise specified.
A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.
Title: A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.
Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is associated with osteoporotic vertebral fracture in elderly women from community.
Title: Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is associated with osteoporotic vertebral fracture in elderly women from community.
Diabetes induces IL-17A-Act1-FADD-dependent retinal endothelial cell death and capillary degeneration.
Title: Diabetes induces IL-17A-Act1-FADD-dependent retinal endothelial cell death and capillary degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (52)

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
Candidiasis, familial, 8 MedGen: C3714992 OMIM: 615527 GeneReviews: Not available	Compare labs
Psoriasis 13, susceptibility to MedGen: C3279754 OMIM: 614070 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17688 (e-PCR)
- UniSTS:74509

GDB:434012 (e-PCR)
- UniSTS:157204

RH16468 (e-PCR)
- UniSTS:75812

RH66319 (e-PCR)
- UniSTS:80422

D8S2279 (e-PCR)
- UniSTS:473907

RH37457 (e-PCR)
- UniSTS:65369

WI-22075 (e-PCR)
- UniSTS:11868

WI-19981 (e-PCR)
- UniSTS:44654

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-34834 (e-PCR)
- UniSTS:77952

GDB:315881 (e-PCR)
- UniSTS:156545

A009B26 (e-PCR)
- UniSTS:17795

SHGC-31915 (e-PCR)
- UniSTS:53380

RH46812 (e-PCR)
- UniSTS:72355

A002J25 (e-PCR)
- UniSTS:18909

GDB:631802 (e-PCR)
- UniSTS:158429

GDB:631813 (e-PCR)
- UniSTS:158430

B334ZD1 (e-PCR)
- UniSTS:55275

D6S2103 (e-PCR)
- UniSTS:59373

G32386 (e-PCR)
- UniSTS:116974

G38229 (e-PCR)
- UniSTS:46069

AL022468 (e-PCR)
- UniSTS:37370

SHGC-32114 (e-PCR)
- UniSTS:16124

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell affinity maturation	IEA Inferred from Electronic Annotation more info
involved_in B cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in B cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in CD40 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in T-helper 17 type immune response	IEA Inferred from Electronic Annotation more info
involved_in eosinophil homeostasis	IEA Inferred from Electronic Annotation more info
involved_in eosinophil mediated immunity	IEA Inferred from Electronic Annotation more info
involved_in establishment of T cell polarity	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in humoral immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-17-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interleukin-17A-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in leukocyte activation involved in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in lymph node development	IEA Inferred from Electronic Annotation more info
involved_in mRNA stabilization	IEA Inferred from Electronic Annotation more info
involved_in mucus secretion	IEA Inferred from Electronic Annotation more info
involved_in neutrophil activation	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
involved_in positive regulation of canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of defense response to virus by host	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in protein localization to P-body	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in signal transduction involved in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in skin development	IEA Inferred from Electronic Annotation more info
involved_in spleen development	IEA Inferred from Electronic Annotation more info
involved_in transitional two stage B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in type 2 immune response	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of cytoplasmic side of plasma membrane	IC Inferred by Curator more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin ligase TRAF3IP2

Names: E3 ubiquitin-protein ligase CIKS; NFkB-activating protein ACT1; adapter protein CIKS; connection to IKK and SAPK/JNK; nuclear factor NF-kappa-B activator 1; symbol withdrawn, see C6orf4

NP_001157753.1

EC 2.3.2.27

NP_001157755.1

EC 2.3.2.27

NP_671733.2

EC 2.3.2.27

NP_679211.2

EC 2.3.2.27

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_032030.2 RefSeqGene

Range

5001..55498

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1337

mRNA and Protein(s)

NM_001164281.3 → NP_001157753.1 E3 ubiquitin ligase TRAF3IP2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 2. This results in an isoform (3) that is 1 aa shorter than isoform 2.

Source sequence(s)

AF136405, AF136407, AK025351, AL008730, AW296296, DA130363, DA836923

Consensus CDS

CCDS55050.1

UniProtKB/TrEMBL

A0A8V8TQD6

Related

ENSP00000352889.4, ENST00000359831.8

Conserved Domains (2) summary

pfam08357
Location:401 → 542

SEFIR; SEFIR domain

cl01053
Location:311 → 409

SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...
NM_001164283.3 → NP_001157755.1 E3 ubiquitin ligase TRAF3IP2 isoform 5

See identical proteins and their annotated locations for NP_001157755.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks several exons from the 5' end, and contains an alternate 5' terminal exon compared to variant 2. This results in translation initiation from a downstream AUG, and a shorter isoform (5) compared to isoform 2.

Source sequence(s)

AF136405, AF136407, AL008730, AW296296, CB049654, DA130363

Consensus CDS

CCDS55049.1

UniProtKB/Swiss-Prot

O43734

Related

ENSP00000357724.1, ENST00000368735.1

Conserved Domains (1) summary

cl23749
Location:1 → 87

TIR_2; TIR domain
NM_147200.3 → NP_671733.2 E3 ubiquitin ligase TRAF3IP2 isoform 1

See identical proteins and their annotated locations for NP_671733.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains an alternate 5' exon which results in the use of an upstream in-frame start codon, compared to variant 2. The encoded isoform (1) has a longer N-terminus compared to isoform 2.

Source sequence(s)

AF136405, AK025351, AL008730, DA665549

Consensus CDS

CCDS5092.1

UniProtKB/Swiss-Prot

B2RAY9, E1P555, O43734, Q5R3A3, Q7Z6Q1, Q7Z6Q2, Q7Z6Q3, Q9H5W2, Q9H6Y3, Q9NS14, Q9UG72

UniProtKB/TrEMBL

A0A8V8TQD6

Related

ENSP00000345984.6, ENST00000340026.10

Conserved Domains (2) summary

pfam08357
Location:410 → 552

SEFIR; SEFIR domain

cl01053
Location:320 → 418

SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...
NM_147686.4 → NP_679211.2 E3 ubiquitin ligase TRAF3IP2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes isoform (2).

Source sequence(s)

AF136405, AF136406, AF136407, AL008730, AW296296, DA130363

Consensus CDS

CCDS5093.1

UniProtKB/TrEMBL

A0A8V8TQD6

Related

ENSP00000357750.5, ENST00000368761.11

Conserved Domains (2) summary

pfam08357
Location:401 → 543

SEFIR; SEFIR domain

cl01053
Location:311 → 409

SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

111555381..111605878 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

112738381..112788887 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001164282.1: Suppressed sequence

Description

NM_001164282.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NR_028338.2: Suppressed sequence

Description

NR_028338.2: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.