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

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

Homo sapiens

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

Gene ID: 55902 | Gene type: protein coding

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

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

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