FAM167A (family with sequence similarity 167 member A)

2014-11-01  

Identity

HGNC
FAM167A
LOCATION
8p23.1
LOCUSID
83648
ALIAS
C8orf13,D8S265,DIORA-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83648
MIM: 610085
HGNC: 15549
Ensembl: ENSG00000154319

Variants:

dbSNP: 83648
ClinVar: 83648
TCGA: ENSG00000154319
COSMIC: FAM167A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154319ENST00000284486Q96KS9
ENSG00000154319ENST00000528897Q96KS9
ENSG00000154319ENST00000531804E9PIY0
ENSG00000154319ENST00000534308Q96KS9
ENSG00000154319ENST00000648766A0A3B3IU03

Expression (GTEx)

0
10
20
30
40
50
60
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

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
182040982008Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.309
191105362009Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus.82
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208618582011Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.35
208618582011Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.35
201312392010Association of the FAM167A-BLK region with systemic sclerosis.24
208485682010Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.23
191804782009Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population.19
214801882011C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis.16
236359512013Association studies of TNFSF4, TNFAIP3 and FAM167A-BLK polymorphisms with primary Sjogren's syndrome in Han Chinese.11

Citation

Dessen P

FAM167A (family with sequence similarity 167 member A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63060/fam167a