SH2D2A (SH2 domain containing 2A)

2016-10-01 Affiliation

Identity

HGNC

SH2D2A

LOCATION

1q23.1

LOCUSID

9047

ALIAS

F2771,SCAP,TSAD,VRAP

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: 9047
MIM: 604514
HGNC: 10821
Ensembl: ENSG00000027869

Variants:

dbSNP: 9047
ClinVar: 9047
TCGA: ENSG00000027869
COSMIC: SH2D2A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000027869	ENST00000368198	Q9NP31
ENSG00000027869	ENST00000368199	Q9NP31
ENSG00000027869	ENST00000392306	Q9NP31

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
VEGF signaling pathway	KEGG	ko04370
VEGF signaling pathway	KEGG	hsa04370
Signal Transduction	REACTOME	R-HSA-162582
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
18541536	2008	Modulation of Lck function through multisite docking to T cell-specific adapter protein.	13
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
20305788	2010	T cell specific adapter protein (TSAd) interacts with Tec kinase ITK to promote CXCL12 induced migration of human and murine T cells.	10
11528519	2001	The T cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis.	9
25492967	2014	The kinase Itk and the adaptor TSAd change the specificity of the kinase Lck in T cells by promoting the phosphorylation of Tyr192.	8
15129233	2004	Genetic association between juvenile rheumatoid arthritis and polymorphism in the SH2D2A gene.	7
15129233	2004	Genetic association between juvenile rheumatoid arthritis and polymorphism in the SH2D2A gene.	7
21696499	2011	Polymorphism of CD1 and SH2D2A genes in inflammatory neuropathies.	6

Citation

Dessen P

SH2D2A (SH2 domain containing 2A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56286/sh2d2a