SH2D1A (SH2 domain containing 1A)

2003-02-01 Affiliation

Identity

HGNC

SH2D1A

LOCATION

Xq25

LOCUSID

4068

ALIAS

DSHP,EBVS,IMD5,LYP,MTCP1,SAP,SAP/SH2D1A,XLP,XLPD,XLPD1

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: 4068
MIM: 300490
HGNC: 10820
Ensembl: ENSG00000183918

Variants:

dbSNP: 4068
ClinVar: 4068
TCGA: ENSG00000183918
COSMIC: SH2D1A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000183918	ENST00000360027	O60880
ENSG00000183918	ENST00000371139	O60880
ENSG00000183918	ENST00000477673	O60880
ENSG00000183918	ENST00000647259	A0A2R8Y573

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
Natural killer cell mediated cytotoxicity	KEGG	ko04650
Natural killer cell mediated cytotoxicity	KEGG	hsa04650
Measles	KEGG	ko05162
Measles	KEGG	hsa05162
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	REACTOME	R-HSA-198933

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166182763	emapalumab	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
15711562	2005	Regulation of NKT cell development by SAP, the protein defective in XLP.	139
15738056	2005	Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product.	121
19079134	2009	SLAM receptors and SAP influence lymphocyte interactions, development and function.	87
12545174	2003	SAP couples Fyn to SLAM immune receptors.	82
14523387	2003	The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease.	78
21119115	2011	Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).	71
22438812	2012	TGF-β1 down-regulation of NKG2D/DAP10 and 2B4/SAP expression on human NK cells contributes to HBV persistence.	63
20926771	2011	X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.	56
15677558	2005	SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells.	48
19759517	2009	Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.	47

Citation

Dessen P

SH2D1A (SH2 domain containing 1A)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42282/sh2d1a