TRAF3IP2 (TRAF3 interacting protein 2)

2003-06-01 Affiliation

Identity

HGNC

TRAF3IP2

LOCATION

6q21

LOCUSID

10758

ALIAS

ACT1,C6orf2,C6orf4,C6orf5,C6orf6,CANDF8,CIKS,PSORS13

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10758
MIM: 607043
HGNC: 1343
Ensembl: ENSG00000056972

Variants:

dbSNP: 10758
ClinVar: 10758
TCGA: ENSG00000056972
COSMIC: TRAF3IP2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000056972	ENST00000340026	O43734
ENSG00000056972	ENST00000359831	O43734
ENSG00000056972	ENST00000368730	O43734
ENSG00000056972	ENST00000368734	O43734
ENSG00000056972	ENST00000368735	O43734
ENSG00000056972	ENST00000368761	O43734
ENSG00000056972	ENST00000392556	O43734
ENSG00000056972	ENST00000464903	A0A494C0I3
ENSG00000056972	ENST00000492671	A0A494C0R7
ENSG00000056972	ENST00000650649	A0A494C0G2
ENSG00000056972	ENST00000650859	A0A494C172
ENSG00000056972	ENST00000651359	A0A494C1J9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
IL-17 signaling pathway	KEGG	ko04657
IL-17 signaling pathway	KEGG	hsa04657

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD
PA444059	Epidermal Necrolysis, Toxic	Disease	VariantAnnotation	associated	PD
PA445738	Stevens-Johnson Syndrome	Disease	VariantAnnotation	associated	PD
PA447230	HIV	Disease	ClinicalAnnotation, VariantAnnotation	associated	PD
PA450616	nevirapine	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
36544242	2023	αCT1 peptide sensitizes glioma cells to temozolomide in a glioblastoma organoid platform.	4
36978108	2023	NF-κB Activator 1 downregulation in macrophages activates STAT3 to promote adenoma-adenocarcinoma transition and immunosuppression in colorectal cancer.	3
36544242	2023	αCT1 peptide sensitizes glioma cells to temozolomide in a glioblastoma organoid platform.	4
36978108	2023	NF-κB Activator 1 downregulation in macrophages activates STAT3 to promote adenoma-adenocarcinoma transition and immunosuppression in colorectal cancer.	3
35441794	2022	TRAF3IP2 regulated by FOXO4 affects fibroblast proliferation, migration, and extracellular matrix deposition in keloid through the TGF-β1/Smad pathway.	2
35642993	2022	A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients.	3
35441794	2022	TRAF3IP2 regulated by FOXO4 affects fibroblast proliferation, migration, and extracellular matrix deposition in keloid through the TGF-β1/Smad pathway.	2
35642993	2022	A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients.	3
33359359	2021	Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.	6
33825088	2021	A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.	8
34140493	2021	Fusion transcripts FYN-TRAF3IP2 and KHDRBS1-LCK hijack T cell receptor signaling in peripheral T-cell lymphoma, not otherwise specified.	12
33359359	2021	Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.	6
33825088	2021	A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.	8
34140493	2021	Fusion transcripts FYN-TRAF3IP2 and KHDRBS1-LCK hijack T cell receptor signaling in peripheral T-cell lymphoma, not otherwise specified.	12
32350852	2020	A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.	7

Citation

Dessen P

TRAF3IP2 (TRAF3 interacting protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/891/traf3ip2-(traf3-interacting-protein-2)