ACSS2 - acyl-CoA synthetase short chain family member 2 Gene

Also Known as ACS; ACSA; ACAS2; ACECS; AceCS1; dJ1161H23.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55902

About ACSS2

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,874,989-34,927,959 (from NCBI)

This gene has 24 transcripts (splice variants), 219 orthologues and 13 paralogues. Broad expression in fat (RPKM 49.2), duodenum (RPKM 47.1) and 24 other tissues.

Summary

This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of Cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

ACSS2 Products (3)

mRNA Protein Name
NM_001076552.3 NP_001070020.2 acetyl-coenzyme A synthetase, cytoplasmic isoform 2
NM_001242393.2 NP_001229322.1 acetyl-coenzyme A synthetase, cytoplasmic isoform 3
NM_018677.4 NP_061147.1 acetyl-coenzyme A synthetase, cytoplasmic isoform 1
Molecular Function GO Annotation Evidence References Source
enables acetate-CoA ligase activity IDA
IDA: Inferred from direct assay
10843999 GOA
enables acetate-CoA ligase activity IMP
IMP: Inferred from mutant phenotype
28552616 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28552616 GOA
Biological Process GO Annotation Evidence References Source
involved in lipid biosynthetic process IMP
IMP: Inferred from mutant phenotype
10843999 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
28003429 GOA
located in nucleus IDA
IDA: Inferred from direct assay
28552616 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACSS2 Protein Structure

AMP-binding

AMP-binding: AMP-binding enzyme (115 - 574)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (583 - 661)

  • 0
  • 200
  • 400
  • 600
  • 701 a.a.
Protein Preferred Names Protein Names

acetyl-coenzyme A synthetase, cytoplasmic

  • acetate thiokinase

ACSS2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80483 ACSS2 Antibody (YA645) WB, ICC/IF Human, Mouse, Rat
HY-P82238 ACSS2 Antibody (YA1983) WB, ICC/IF Human, Mouse, Rat
HY-P82238A ACSS2 Antibody (YA1983)(PBS only) WB Human

Related Diseases

Diseases Alias
Orofacial Cleft 1
  • OFC1

  • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 1

  • Orofacial Cleft, Nonsyndromic

  • Ofc

  • Cleft Lip/Palate, Nonsyndromic

  • Orofacial Cleft-1

  • Nonsyndromic Cleft Lip With Or Without Cleft Palate 1

  • Nonsyndromic Cleft Lip Palate

  • Otofaciocervical Syndrome 1

Cardiomyopathy, Infantile Histiocytoid
  • Histiocytoid Cardiomyopathy

  • Foamy Myocardial Transformation Of Infancy

  • Infantile Histiocytoid Cardiomyopathy

  • Infantile Xanthomatous Cardiomyopathy

  • Oncocytic Cardiomyopathy

  • Cardiomyopathy, Infantile Xanthomatous

  • Cardiomyopathy, Focal Lipid

  • Cardiomyopathy, Oncocytic

  • Focal Lipid Cardiomyopathy

  • Infantile Cardiomyopathy With Histiocytoid Change

  • CMIH

  • Cardiomyopathy Focal Lipid

  • Cardiomyopathy Infantile Xanthomatous

  • Cardiomyopathy Oncocytic

Canavan Disease
  • Aspartoacylase Deficiency

  • Aminoacylase 2 Deficiency

  • Spongy Degeneration Of Central Nervous System

  • Aspa Deficiency

  • Acy2 Deficiency

  • Canavan-Van Bogaert-Bertrand Disease

  • Mild Canavan Disease

  • Asp Deficiency

  • Spongy Degeneration Of The Central Nervous System

  • Severe Canavan Disease

  • Von Bogaert-Bertrand Disease

  • Canavan'S Disease

  • Spongy Degeneration Of The Brain

  • Juvenile Canavan Disease

  • Infantile Canavan Disease

  • Neonatal Canavan Disease

  • CAND

  • Disease, Canavan

  • Canavan Disease, Juvenile

  • Canavan Disease, Infantile

  • Canavan Disease, Neonatal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ACSS2 RGD RGD:1305489
Felis catus ACSS2 VGNC VGNC:79978
Bos taurus ACSS2 VGNC VGNC:25571
Mus musculus ACSS2 MGD MGI:1890410
Macaca mulatta ACSS2 VGNC VGNC:69410
Canis familiaris ACSS2 VGNC VGNC:37537
Others ACSS2 NCBI