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This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
BCL2L13 (BCL2 Like 13) is a Protein Coding gene. Diseases associated with BCL2L13 include Legionellosis and Cat Eye Syndrome. Among its related pathways are Regulation of Apoptosis by Parathyroid Hormone-related Protein and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008656 | cysteine-type endopeptidase activator activity involved in apoptotic process | NAS | 11262395 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005739 | mitochondrion | IDA,NAS | 11262395 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA,IDA | 11262395 |
GO:0031966 | mitochondrial membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Legionellosis | ||
2 | Mitophagy - animal | ||
3 | Regulation of Apoptosis by Parathyroid Hormone-related Protein |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA,NAS | 11262395 |
GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | NAS | 11262395 |
GO:0042981 | regulation of apoptotic process | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | · | 14c | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP17: |
ExUns: | 14d | · | 14e | · | 14f | · | 14g | · | 14h | · | 14i |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | |||||||||||
SP8: | |||||||||||
SP9: | |||||||||||
SP10: | |||||||||||
SP11: | |||||||||||
SP12: | |||||||||||
SP13: | |||||||||||
SP14: | |||||||||||
SP15: | |||||||||||
SP16: | |||||||||||
SP17: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCL2L13 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCL2L13 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCL2L13 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bcl2l13 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BCL2L13 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC689660 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BCL2L13 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BCL2L13 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCL2L13 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcl2l13 30 |
|
||
Str.949 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | bcl2l13 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
777662 | Benign: not provided | 17,702,357(+) | G/T | MISSENSE_VARIANT,INTRON_VARIANT | |
788925 | Benign: not provided | 17,683,229(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs2587070 | -. - | p.Ile46Argp.Ile46Thr | |||
rs16981016 | - | p.Ile55Val | |||
rs9306198 | - | p.Pro360Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
legionellosis |
|
|
cat eye syndrome |
|
|
mitochondrial complex i deficiency, nuclear type 1 |
|
|