TAGAP (T cell activation RhoGTPase activating protein)

2014-11-01  

Identity

HGNC
TAGAP
LOCATION
6q25.3
LOCUSID
117289
ALIAS
ARHGAP47,FKSG15,IDDM21,TAGAP1

Other Information

Locus ID:

NCBI: 117289
MIM: 609667
HGNC: 15669
Ensembl: ENSG00000164691

Variants:

dbSNP: 117289
ClinVar: 117289
TCGA: ENSG00000164691
COSMIC: TAGAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164691ENST00000326965Q8N103
ENSG00000164691ENST00000338313Q8N103
ENSG00000164691ENST00000367066Q8N103
ENSG00000164691ENST00000642909A0A2R8YEB9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
190739672008Shared and distinct genetic variants in type 1 diabetes and celiac disease.249
183111402008Newly identified genetic risk variants for celiac disease related to the immune response.231
198984812009Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.131
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
208546582010Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease.33
208546582010Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease.33
251979412014Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia.30
188058252009Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.16
206472732010Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.14
213900512011Fine mapping the TAGAP risk locus in rheumatoid arthritis.14

Citation

Dessen P

TAGAP (T cell activation RhoGTPase activating protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74474/tagap