ABHD12B - abhydrolase domain containing 12B Gene

Also Known as BEM46L3; C14orf29; c14_5314

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 145447

About ABHD12B

This gene has 9 transcripts (splice variants), 317 orthologues and 7 paralogues. Biased expression in skin (RPKM 6.3), brain (RPKM 0.8) and 2 other tissues.

Summary

Predicted to enable acylglycerol Lipase activity; lysophospholipase activity; and palmitoyl-(protein) hydrolase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

ABHD12B Products (3)

mRNA Protein Name
NM_001206673.2 NP_001193602.1 protein ABHD12B isoform a
NM_181533.4 NP_853511.2 protein ABHD12B isoform b
NM_181814.2 NP_861535.1 protein ABHD12B isoform c

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 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

ABHD12B Protein Structure

Abhydrolase_5

Abhydrolase_5: Alpha/beta hydrolase family (142 - 323)

  • 0
  • 100
  • 200
  • 300
  • 362 a.a.
Protein Preferred Names Protein Names

protein ABHD12B

  • abhydrolase domain-containing protein 12B

Related Diseases

Diseases Alias
Mixed Germ Cell Cancer

  • Mixed Germ Cell Tumor

  • Mixed Germ Cell Neoplasm

  • Mixed Germ Cell Tumour

  • Mixed Teratoma And Seminoma
Chanarin-Dorfman Syndrome

  • Neutral Lipid Storage Disease

  • CDS

  • Neutral Lipid Storage Disease With Ichthyosis

  • Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

  • Triglyceride Storage Disease With Ichthyosis

  • Nlsdi

  • Ichthyotic Neutral Lipid Storage Disease

  • Dorfman-Chanarin Syndrome

  • Dcs

  • Chanarin-Dorfman Disease

  • Ichthyosiform Erythroderma With Leukocyte Vacuolation

  • Lipidosis With Triglyceride Storage Disease

  • Disorder Of Cornification 12

  • Dorfman Chanarin Syndrome

  • Neutral Lipid Storage Disease With Ichthyotic

  • Dorfman-Chanarin Disease
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00087 ABHD12B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ABHD12B RGD RGD:1303145
Macaca mulatta ABHD12B VGNC VGNC:69481
Felis catus ABHD12B VGNC VGNC:59477
Bos taurus ABHD12B VGNC VGNC:25491
Canis familiaris ABHD12B VGNC VGNC:37459
Mus musculus ABHD12B MGD MGI:2685650
Others ABHD12B NCBI