ABHD12B - abhydrolase domain containing 12B Gene

Homo sapiens

Also known as BEM46L3; C14orf29; c14_5314

Gene ID: 145447 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00087	ABHD12B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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