ACSM2A (acyl-CoA synthetase medium chain family member 2A)

2014-11-01  

Identity

HGNC
ACSM2A
LOCATION
16p12.3
LOCUSID
123876
ALIAS
A-923A4.1,ACSM2

Other Information

Locus ID:

NCBI: 123876
MIM: 614358
HGNC: 32017
Ensembl: ENSG00000183747

Variants:

dbSNP: 123876
ClinVar: 123876
TCGA: ENSG00000183747
COSMIC: ACSM2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183747ENST00000219054Q08AH3
ENSG00000183747ENST00000396104Q08AH3
ENSG00000183747ENST00000417235F5GWL3
ENSG00000183747ENST00000571894I3L2Y5
ENSG00000183747ENST00000573854Q08AH3
ENSG00000183747ENST00000574251I3L339
ENSG00000183747ENST00000574692E7EPS5
ENSG00000183747ENST00000575690Q08AH3
ENSG00000183747ENST00000576361I3L438

Expression (GTEx)

0
50
100
150
200
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
Butanoate metabolismKEGGko00650
Butanoate metabolismKEGGhsa00650
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
Amino Acid conjugationREACTOMER-HSA-156587
Conjugation of carboxylic acidsREACTOMER-HSA-159424
Conjugation of salicylate with glycineREACTOMER-HSA-177128

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
299483322018Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B.10
299483322018Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B.10
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
193452282009Structural snapshots for the conformation-dependent catalysis by human medium-chain acyl-coenzyme A synthetase ACSM2A.48
193452282009Structural snapshots for the conformation-dependent catalysis by human medium-chain acyl-coenzyme A synthetase ACSM2A.48

Citation

Dessen P

ACSM2A (acyl-CoA synthetase medium chain family member 2A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60102/case-report-explorer/js/lib/favicon/favicon-32x32.png