ABHD16A (abhydrolase domain containing 16A, phospholipase)

2014-08-01  

Identity

HGNC
ABHD16A
LOCATION
6p21.33
LOCUSID
7920
ALIAS
BAT5,D6S82E,NG26,PP199,hBAT5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7920
MIM: 142620
HGNC: 13921
Ensembl: ENSG00000204427

Variants:

dbSNP: 7920
ClinVar: 7920
TCGA: ENSG00000204427
COSMIC: ABHD16A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204427ENST00000395952O95870
ENSG00000204427ENST00000395952A0A1U9X777
ENSG00000204427ENST00000440843O95870
ENSG00000204427ENST00000468037F2Z3Q3
ENSG00000204427ENST00000477462F2Z3G6
ENSG00000204427ENST00000482224F2Z3H2
ENSG00000204427ENST00000492084F2Z3Q3
ENSG00000204427ENST00000495769F2Z3H2
ENSG00000204427ENST00000498420F2Z3G6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
191159492009Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).119
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
191169232009Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci.19
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
188358792008Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis.12
204069642010Risk of meningioma and common variation in genes related to innate immunity.12
206260232010Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm.12
206260232010Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm.12
210443672010An integrative method for scoring candidate genes from association studies: application to warfarin dosing.11
252909142014Biochemical and pharmacological characterization of the human lymphocyte antigen B-associated transcript 5 (BAT5/ABHD16A).7

Citation

Dessen P

ABHD16A (abhydrolase domain containing 16A, phospholipase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54098/abhd16a