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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 suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
BCL2L12 (BCL2 Like 12) is a Protein Coding gene. Diseases associated with BCL2L12 include Autoimmune Lymphoproliferative Syndrome, Type Iii and Laryngeal Benign Neoplasm. Among its related pathways are Regulation of Apoptosis by Parathyroid Hormone-related Protein. Gene Ontology (GO) annotations related to this gene include p53 binding. An important paralog of this gene is BCL2L14.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002039 | p53 binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 20837658 |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of Apoptosis by Parathyroid Hormone-related Protein |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0042981 | regulation of apoptotic process | IEA | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA | 22262180 |
GO:1902166 | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | IEA | -- |
GO:1990001 | inhibition of cysteine-type endopeptidase activity involved in apoptotic process | IDA | 22262180 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: | - | ||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||
SP5: | - | - | |||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCL2L12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCL2L12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCL2L12 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bcl2l12 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Bcl2l12 30 17 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCL2L12 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | BCL2L12 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057519880 | Likely Pathogenic: Squamous cell carcinoma of the skin; Malignant melanoma of skin | 49,665,875(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs2060263 | - | p.Gly47Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1160655 | CNV | deletion | 26073780 |
nsv469715 | CNV | gain+loss | 16826518 |
nsv470150 | CNV | gain | 18288195 |
nsv817854 | CNV | gain | 17921354 |
nsv828578 | CNV | loss | 20364138 |
nsv833864 | CNV | gain | 17160897 |
nsv833865 | CNV | gain+loss | 17160897 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autoimmune lymphoproliferative syndrome, type iii |
|
|
laryngeal benign neoplasm |
|
|
gliosarcoma |
|
|