BCL2L2 (Homo sapiens)
Description [+]
- Synonyms: BCL2L2, KIAA0271, BCL-W
- Species: Metazoa;Bilateria;Deuterostoma;Chordata;Vertebrata;Mammalia;Primates;Hominidae; Homo sapiens
- Short gene description: Apoptosis regulator Bcl-W (Bcl-2-like 2 protein) [Source:UniProtKB/Swiss-Prot;Acc:Q92843]
- Family: Bcl-2 family : multidomain Bcl-2
- Process: apoptosis,
- Pathways: intrinsic pathway, pre-mitochondrial signaling events,
- Criteria: manually curated
- Curator comment:
- Mouse ortholog(s): Bcl2l2
- WIKI: BCL2L2-H_sapiens
References [+]
- bcl-w, a novel member of the bcl-2 family, promotes cell survival.
- Gibson L, Holmgreen SP, Huang DC, Bernard O, Copeland NG, Jenkins NA, Sutherland GR, Baker E, Adams JM, Cory S
- The prototypic mammalian regulator of cell death is bcl-2, the oncogene implicated in the development of human follicular lymphoma. Several homologues of bcl-2 are now known. Using a PCR-based strategy we cloned a novel member of this gene family, denoted bcl-w. The gene, which is highly conserved between mouse and human, resides near the T-cell antigen receptor alpha gene within the central portion of mouse chromosome 14 and on human chromosome 14 at band q11. Enforced expression of bcl-w rendered lymphoid and myeloid cells refractory to several (but not all) cytotoxic conditions. Thus, like Bcl-2 and Bcl-x, the Bcl-w protein promotes cell survival, in contrast to other close homologues, Bax and Bak, which facilitate cell death. Comparison of the expected amino acid sequence of Bcl-w with that of these relatives helps to delineate residues likely to convey survival or anti-survival function. While expression of bcl-w was uncommon in B or T lymphoid cell lines, the mRNA was observed in almost all murine myeloid cell lines analysed and in a wide range of tissues. These findings suggest that bcl-w participates in the control of apoptosis in multiple cell types. Its functional similarity to bcl-2 also makes it an attractive candidate proto-oncogene. Oncogene. 1996 Aug 15;13(4):665-75.
- References from Mouse ortholog(s):
- Testicular degeneration in Bclw-deficient mice.
- Ross AJ, Waymire KG, Moss JE, Parlow AF, Skinner MK, Russell LD, MacGregor GR
- To identify genes required for mammalian spermatogenesis, we screened lines of mutant mice created using a retroviral gene-trap system for male infertility. Homozygous ROSA41 male mice exhibit sterility associated with progressive testicular degeneration. Germ-cell defects are first observed at 19 days post-natal (p19). Spermatogenesis is blocked during late spermiogenesis in young adults. Gradual depletion of all stages of germ cells results in a Sertoli-cell-only phenotype by approximately six months of age. Subsequently, almost all Sertoli cells are lost from the seminiferous tubules and the Leydig cell population is reduced. Molecular analysis indicates that the gene mutated is Bclw, a death-protecting member of the Bcl2 family. The mutant allele of Bclw in ROSA41 does not produce a Bclw polypeptide. Expression of Bclw in the testis appears to be restricted to elongating spermatids and Sertoli cells. Potential roles for Bclw in testicular function are discussed. Nat Genet. 1998 Mar;18(3):251-6.
- Apoptosis regulator bcl-w is essential for spermatogenesis but appears otherwise redundant.
- Print CG, Loveland KL, Gibson L, Meehan T, Stylianou A, Wreford N, de Kretser D, Metcalf D, Kontgen F, Adams JM, Cory S
- Proteins of the Bcl-2 family are important regulators of apoptosis in many tissues of the embryo and adult. The recently isolated bcl-w gene encodes a pro-survival member of the Bcl-2 family, which is widely expressed. To explore its physiological role, we have inactivated the bcl-w gene in the mouse by homologous recombination. Mice that lack Bcl-w were viable, healthy, and normal in appearance. Most tissues exhibited typical histology, and hematopoiesis was unaffected, presumably due to redundant function with other pro-survival family members. Although female reproductive function was normal, the males were infertile. The testes developed normally, and the initial, prepubertal wave of spermatogenesis was largely unaffected. The seminiferous tubules of adult males, however, were disorganized, contained numerous apoptotic cells, and produced no mature sperm. Both Sertoli cells and germ cells of all types were reduced in number, the most mature germ cells being the most severely depleted. The bcl-w-/- mouse provides a unique model of failed spermatogenesis in the adult that may be relevant to some cases of human male sterility. Proc Natl Acad Sci U S A. 1998 Oct 13;95(21):12424-31.
Structure & Sequence [+]
Pfam domains:
(Pfam is a large collection of protein families.)
| Source | Domain Name | Start | End |
|---|---|---|---|
| PFAM A | BH4 | 6 | 32 |
| PFAM A | Bcl-2 | 46 | 144 |
Protein sequence [+]
BCL2L2 | Homo sapiens | 9606 | length:193
MATPASAPDTRALVADFVGYKLRQKGYVCGAGPGEGPAADPLHQAMRAAGDEFETRFRRT
FSDLAAQLHVTPGSAQQRFTQVSDELFQGGPNWGRLVAFFVFGAALCAESVNKEMEPLVG
QVQEWMVAYLETQLADWIHSSGGWAEFTALYGDGALEEARRLREGNWASVRTVLTGAVAL
GALVTVGAFFASK
FSDLAAQLHVTPGSAQQRFTQVSDELFQGGPNWGRLVAFFVFGAALCAESVNKEMEPLVG
QVQEWMVAYLETQLADWIHSSGGWAEFTALYGDGALEEARRLREGNWASVRTVLTGAVAL
GALVTVGAFFASK
Structure links:
- Smartdomain prediction information: SM00265
- Smartdomain prediction information: SM00337
- Prosite motif and domain information: PS01080
- Prosite motif and domain information: PS01258
- Prosite motif and domain information: PS01260
- Profile motif and domain profile information: PS50062
- Profile motif and domain profile information: PS50063
- Interpro domain information: Q92843
- PFAM domain and domain family information: Q92843
- Protein 3D structures from PDB: 1MK3 1ZY3
Evolution [+]
View protein alignment and tree with Jalview:
Explore tree at phylomeDB: Click here.
Homologs list [+]
| Name | Relationship | Species |
|---|---|---|
| BCL2L2 | orthology | Chimpanzee |
| BCLW_BOVIN | orthology | Cow |
| BCL2L2 | orthology | Gorilla |
| BCL2L2 | orthology | Horse |
| BCL2L2 | orthology | Macaca |
| M_domestica_ENSMODP00000005598 | orthology | Monodelphis |
| Bcl2l2 | orthology | Mouse |
| BCL2L2 | orthology | Ornithorhynchus |
| RGD1565822_predicted | orthology | Rat |
| bcl2l2 | orthology | Xenopus |
| A_aegypti_AAEL001521-PA | paralogy | Aedes |
| Q2PHG8_ANOGA | paralogy | Anopheles |
| BCLX_CHICK | paralogy | Chicken |
| BOK_CHICK | paralogy | Chicken |
| BCL2_CHICK | paralogy | Chicken |
| NP_001026091.1 | paralogy | Chicken |
| BCL2L1 | paralogy | Chimpanzee |
| XR_024448.1 | paralogy | Chimpanzee |
| BAX | paralogy | Chimpanzee |
| BCL2A1 | paralogy | Chimpanzee |
| BCL2 | paralogy | Chimpanzee |
| C_intestinalis_ENSCINP00000024813 | paralogy | Ciona |
| C_intestinalis_ENSCINP00000000654 | paralogy | Ciona |
| NP_001070954.1 | paralogy | Cow |
| NP_001071386.1 | paralogy | Cow |
| BAX_BOVIN | paralogy | Cow |
| Q462R3_BOVIN | paralogy | Cow |
| BCL2 | paralogy | Dog |
| NP_001018644.1 | paralogy | Dog |
| NP_001003072.1 | paralogy | Dog |
| Buffy | paralogy | Fly |
| BCL2L1 (1 of 6) | paralogy | Fugu |
| BCL2L1 (3 of 6) | paralogy | Fugu |
| BCL2L1 (2 of 6) | paralogy | Fugu |
| T_rubripes_ENSTRUP00000006891 | paralogy | Fugu |
| BCL2L1 (4 of 6) | paralogy | Fugu |
| BCL2L1 (5 of 6) | paralogy | Fugu |
| BCL2 | paralogy | Fugu |
| BCL2L1 (6 of 6) | paralogy | Fugu |
| BAX | paralogy | Fugu |
| BOK (2 of 2) | paralogy | Fugu |
| BOK (2 of 2) | paralogy | Gasterosteus |
| BAX | paralogy | Gasterosteus |
| BCL2L1 (2 of 2) | paralogy | Gasterosteus |
| BCL2L1 (1 of 2) | paralogy | Gasterosteus |
| BOK (1 of 2) | paralogy | Gasterosteus |
| BCL2 | paralogy | Gasterosteus |
| BCL2 | paralogy | Gorilla |
| BCL2A1 | paralogy | Gorilla |
| BOK | paralogy | Gorilla |
| BAK1 | paralogy | Gorilla |
| BAX | paralogy | Gorilla |
| BCL2 | paralogy | Horse |
| BAK1 | paralogy | Horse |
| BCL2L1 | paralogy | Horse |
| BCL2A1 | paralogy | Human |
| BAX | paralogy | Human |
| BAK1 | paralogy | Human |
| BCL2L1 | paralogy | Human |
| BOK | paralogy | Human |
| BCL2 | paralogy | Human |
| BCL2L1 | paralogy | Lyzard |
| BOK | paralogy | Lyzard |
| BAX | paralogy | Lyzard |
| BAK1 | paralogy | Lyzard |
| A_carolinensis_ENSACAP00000004550 | paralogy | Lyzard |
| BCL2 | paralogy | Lyzard |
| BAK1 | paralogy | Macaca |
| BCL2L1 | paralogy | Macaca |
| BOK | paralogy | Macaca |
| BCL2 | paralogy | Macaca |
| BAX | paralogy | Macaca |
| BCL2L1 | paralogy | Medaka |
| BAX | paralogy | Medaka |
| BCL2 | paralogy | Medaka |
| M_domestica_ENSMODP00000026730 | paralogy | Monodelphis |
| BCL2L1 | paralogy | Monodelphis |
| M_domestica_ENSMODP00000037249 | paralogy | Monodelphis |
| BAX | paralogy | Monodelphis |
| BAK1 | paralogy | Monodelphis |
| BOK | paralogy | Monodelphis |
| BCL2 | paralogy | Monodelphis |
| Bak1 | paralogy | Mouse |
| Bcl2l1 | paralogy | Mouse |
| Bcl2 | paralogy | Mouse |
| Bax | paralogy | Mouse |
| Bok | paralogy | Mouse |
| P_pygmaeus_ENSPPYP00000018457 | paralogy | Orangutan |
| BCL2A1 | paralogy | Orangutan |
| P_pygmaeus_ENSPPYP00000006150 | paralogy | Orangutan |
| BOK | paralogy | Orangutan |
| BCL2L1 | paralogy | Orangutan |
| BCL2 | paralogy | Orangutan |
| BOK | paralogy | Ornithorhynchus |
| Q9MYW4_RABIT | paralogy | Rabbit |
| BAK1 | paralogy | Rabbit |
| BAX | paralogy | Rabbit |
| Bax | paralogy | Rat |
| Bak1 | paralogy | Rat |
| Bcl2 | paralogy | Rat |
| BCLX_RAT | paralogy | Rat |
| R_norvegicus_ENSRNOP00000052069 | paralogy | Rat |
| Bok | paralogy | Rat |
| T_nigroviridis_ENSTNIP00000017211 | paralogy | Tetraodon |
| BCL2L1 (2 of 3) | paralogy | Tetraodon |
| BOK (2 of 2) | paralogy | Tetraodon |
| BCL2L1 (1 of 3) | paralogy | Tetraodon |
| BCL2L1 (3 of 3) | paralogy | Tetraodon |
| BOK (1 of 2) | paralogy | Tetraodon |
| BCL2 | paralogy | Tetraodon |
| ced-9 | paralogy | Worm |
| BCL2L1 | paralogy | Xenopus |
| BAK1 | paralogy | Xenopus |
| bax | paralogy | Xenopus |
| BCL2 | paralogy | Xenopus |
| BOK | paralogy | Zebra finch |
| BAX | paralogy | Zebra finch |
| BCL2 | paralogy | Zebra finch |
| BCL2A1 | paralogy | Zebra finch |
| BCL2L1 | paralogy | Zebra finch |
| bcl2l | paralogy | Zebrafish |
| zgc:153993 | paralogy | Zebrafish |
| D_rerio_ENSDARP00000037180 | paralogy | Zebrafish |
| baxa | paralogy | Zebrafish |
| boka | paralogy | Zebrafish |
| bcl2 | paralogy | Zebrafish |
| mcl1b | paralogy | Zebrafish |
| mcl1a | paralogy | Zebrafish |
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Gene Ontology [+]
| GO id | Name | Ontology type | Evidence |
|---|---|---|---|
| GO:0007283 | spermatogenesis | biological_proccess | TAS |
| GO:0006916 | anti-apoptosis | biological_proccess | TAS |
| GO:0060011 | Sertoli cell proliferation | biological_proccess | IEA |
| GO:0042981 | regulation of apoptosis | biological_proccess | IEA |
| GO:0005515 | protein binding | mollecular_function | IPI |
| GO:0005515 | protein binding | mollecular_function | IEA |
| GO:0005829 | cytosol | cell_component | IEA |
| GO:0031966 | mitochondrial membrane | cell_component | IEA |
| GO:0005739 | mitochondrion | cell_component | IEA |
| GO:0016020 | membrane | cell_component | IEA |
Check GO Evidence Codes here
Curated Isoforms [+]
| Transcript | Translation |
|---|---|
| OTTHUMT00000071763 * | OTTHUMP00000027940 * |
Info from The Vertebrate Genome Annotation (VEGA) database.
(*) Canonical transcript and translation forms.
Information from other databases [+]
- Gene info from HGNC [?] :995
- Gene related info from GeneCards [?] : BCL2L2
- Ensembl genome browser [?] : ENSG00000129473
- Expression info from Arrayexpress [?] : ENSG00000129473
- Protein expression from Protein Atlas: [?] ENSG00000129473
- Community gene edition from Wikigenes: [?] 599
- OMIM gene information: 601931
- OMIM disease information:
Click on [?] for more information.
