ACSM2B (acyl-CoA synthetase medium chain family member 2B)

2014-11-01  

Identity

HGNC
ACSM2B
LOCATION
16p12.3
LOCUSID
348158
ALIAS
ACSM2,HXMA,HYST1046
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 348158
MIM: 614359
HGNC: 30931
Ensembl: ENSG00000066813

Variants:

dbSNP: 348158
ClinVar: 348158
TCGA: ENSG00000066813
COSMIC: ACSM2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066813ENST00000329697Q68CK6
ENSG00000066813ENST00000414188Q68CK6
ENSG00000066813ENST00000565232Q68CK6
ENSG00000066813ENST00000565322H3BTX9
ENSG00000066813ENST00000566384H3BM61
ENSG00000066813ENST00000567001Q68CK6
ENSG00000066813ENST00000567288A0A087WU25
ENSG00000066813ENST00000568098H3BP39
ENSG00000066813ENST00000568882H3BP79
ENSG00000066813ENST00000569163H3BRR3
ENSG00000066813ENST00000569327H3BNJ9
ENSG00000066813ENST00000569344H3BQ84

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 benzoate with glycineREACTOMER-HSA-177135
Conjugation of phenylacetate with glutamineREACTOMER-HSA-177162
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
206799602010Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.8
299483322018Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B.1
165211602006The L513S polymorphism in medium-chain acyl-CoA synthetase 2 (MACS2) is associated with risk factors of the metabolic syndrome in a Caucasian study population.0
165211602006The L513S polymorphism in medium-chain acyl-CoA synthetase 2 (MACS2) is associated with risk factors of the metabolic syndrome in a Caucasian study population.0

Citation

Dessen P

ACSM2B (acyl-CoA synthetase medium chain family member 2B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60103/acsm2b-(acyl-coa-synthetase-medium-chain-family-member-2b)