1. Gene
  2. BCL2L12 - BCL2 like 12 Gene

BCL2L12 - BCL2 like 12 Gene

Homo sapiens
Gene ID: 83596 | Gene type: protein coding

About BCL2L12

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,665,142-49,673,916 (from NCBI)

This gene has 19 transcripts (splice variants), 153 orthologues, 1 paralogue and is associated with 49 phenotypes. Ubiquitous expression in lymph node (RPKM 7.1), spleen (RPKM 6.8) and 25 other tissues.

Summary

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 Products(8)

mRNA Protein Name
NM_001040668.2 NP_001035758.2 bcl-2-like protein 12 isoform 3
NM_001282516.2 NP_001269445.2 bcl-2-like protein 12 isoform 4
NM_001282517.2 NP_001269446.2 bcl-2-like protein 12 isoform 2
NM_001282519.2 NP_001269448.2 bcl-2-like protein 12 isoform 5
NM_001282520.1 NP_001269449.1 bcl-2-like protein 12 isoform 6
NM_001282521.2 NP_001269450.2 bcl-2-like protein 12 isoform 7
NM_001385706.1 NP_001372635.1 bcl-2-like protein 12 isoform 8
NM_138639.2 NP_619580.2 bcl-2-like protein 12 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19376117 GOA
Biological Process GO Annotation Evidence Reference Source
involved in inhibition of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: Inferred from direct assay
22262180 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
22262180 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
20837658 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

bcl-2-like protein 12

BCL2-like 12 (proline rich)

BCL2L12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
BCL2L12 Q9HB09 BAX Homo sapiens Q07812
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BCL2L12 Proteins

Cat. No. Product Name Accession Purity
HY-P76165 BCL2L12 Protein, Human (GST) Q9HB09-1 (P64-K143) ≥95%

Related Diseases

Diseases Alias
Skin Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Skin

Epidermoid Skin Carcinoma

Squamous Cell Carcinoma Of The Skin

Squamous Cell Epithelioma Of Skin

Cutaneous Squamous Cell Carcinoma

Scc - [Squamous Cell Carcinoma] Of Skin

Skin Melanoma

Cutaneous Melanoma

Malignant Ear Melanoma

Malignant Lip Melanoma

Malignant Lower Limb Melanoma

Malignant Melanoma Of Ear And/Or External Auricular Canal

Malignant Melanoma Of Skin Of Lower Limb

Malignant Melanoma Of Skin Of Trunk Except Scrotum

Malignant Melanoma Of Skin Of Upper Limb

Malignant Neck Melanoma

Malignant Scalp Melanoma

Malignant Trunk Melanoma

Malignant Upper Limb Melanoma

Melanoma, Cutaneous Malignant

Melanoma

Malignant Melanoma Of Skin

Melanoma Nos

Malignant Mole, Meaning Melanoma Of Unspecified Site

Melanoma Of Unspecified Site

Cutaneous Malignant Melanoma

Mm - [Malignant Melanoma]

Autoimmune Lymphoproliferative Syndrome, Type Iii

ALPS3

Autoimmune Lymphoproliferative Syndrome Type 3

Immunodeficiency, Common Variable, 9, Formerly

Cvid9, Formerly

Autoimmune Lymphoproliferative Syndrome Type Iii

Autoimmune Lymphoproliferative Syndrome 3

Cvid9

Immunodeficiency, Common Variable, 9

Type 3 Autoimmune Lymphoproliferative Syndrome

Immunodeficiency, Variable, Common, Type 9

Laryngeal Benign Neoplasm

Laryngeal Tumor

Larynx Neoplasm

Neoplasm Of Larynx

Laryngeal Cancer

Laryngeal Carcinoma

Cancer Of Larynx

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus BCL2L12 MGD MGI:1922986
Rattus norvegicus BCL2L12 RGD RGD:1307361
Bos taurus BCL2L12 VGNC VGNC:26447
Macaca mulatta BCL2L12 VGNC VGNC:103792
Canis familiaris BCL2L12 VGNC VGNC:53525
Others BCL2L12 NCBI