• Gene id: 83596

Gene Summary

• Gene Symbol: BCL2L12   Gene   UCSC   Ensembl
• Gene name: BCL2 like 12
• Alternate names: bcl-2-like protein 12, BCL2-like 12 (proline rich), Bcl-2 related proline-rich protein,
• Gene location: 19q13.33 (5419738: 5384832)     Exons: 18     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppre
• OMIM: 610837

Protein Summary

• Protein general information: Q9HB09  
  • Name: Bcl 2 like protein 12 (Bcl2 L 12) (Bcl 2 related proline rich protein)
  • Length: 334  
  • Mass: 36821
  • Tissue specificity: Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily expressed in skeletal musc
• Sequence:

  MGRPAGLFPPLCPFLGFRPEACWERHMQIERAPSVPPFLRWAGYRPGPVRRRGKVELIKFVRVQWRRPQVEWRRR
  RWGPGPGASMAGSEELGLREDTLRVLAAFLRRGEAAGSPVPTPPRSPAQEEPTDFLSRLRRCLPCSLGRGAAPSE
  SPRPCSLPIRPCYGLEPGPATPDFYALVAQRLEQLVQEQLKSPPSPELQGPPSTEKEAILRRLVALLEEEAEVIN
  QKLASDPALRSKLVRLSSDSFARLVELFCSRDDSSRPSRACPGPPPPSPEPLARLALAMELSRRVAGLGGTLAGL
  SVEHVHSFTPWIQAHGGWEGILAVSPVDLNLPLD

• Structural information:
  • Interpro: IPR036834  
  • STRING: ENSP00000482218
• Other Databases: GeneCards:  BCL2L12  Malacards:  BCL2L12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001236	regulation of extrinsic apoptotic signaling pathway	IBA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0002039	p53 binding	IEA	molecular function
GO:2000773	negative regulation of cellular senescence	IEA	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:1990001	inhibition of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
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
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq