• Gene id: 145447

Gene Summary

• Gene Symbol: ABHD12B   Gene   UCSC   Ensembl
• Aliases: BEM46L3, C14orf29, c14_5314
• Gene name: abhydrolase domain containing 12B
• Alternate names: protein ABHD12B, abhydrolase domain-containing protein 12B, alpha/beta hydrolase domain-containing protein 12B,
• Gene location: 14q22.1 (50872052: 50904969)     Exons: 15     NC_000014.9

Protein Summary

• Protein general information: Q7Z5M8  
  • Name: Protein ABHD12B (EC 3. . . ) (Abhydrolase domain containing protein 12B) (Alpha/beta hydrolase domain containing protein 12B)
  • Length: 362  
  • Mass: 40776
• Sequence:

  MDAQDCQAAASPEPPGPPARSCVAAWWDMVDRNLRYFPHSCSMLGRKIAALYDSFTSKSLKEHVFLPLIDMLIYF
  NFFKAPFLVDLKKPELKIPHTVNFYLRVEPGVMLGIWHTVPSCRGEDAKGKDCCWYEAALRDGNPIIVYLHGSAE
  HRAASHRLKLVKVLSDGGFHVLSVDYRGFGDSTGKPTEEGLTTDAICVYEWTKARSGITPVCLWGHSLGTGVATN
  AAKVLEEKGCPVDAIVLEAPFTNMWVASINYPLLKIYRNIPGFLRTLMDALRKDKIIFPNDENVKFLSSPLLILH
  GEDDRTVPLEYGKKLYEIARNAYRNKERVKMVIFPPGFQHNLLCKSPTLLITVRDFLSKQWS

• Structural information:
  • Interpro: IPR029058  IPR022742  
  • STRING: ENSP00000336693
• Other Databases: GeneCards:  ABHD12B  Malacards:  ABHD12B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004622	lysophospholipase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0052651	monoacylglycerol catabolic process	IBA	biological process
GO:0006660	phosphatidylserine catabolic process	IBA	biological process
GO:0047372	acylglycerol lipase activity	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881