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  2. BCL2L12 - BCL2 like 12 Gene

BCL2L12 - BCL2 like 12 Gene

中文名称:BCL2 样 12

种属: Homo sapiens

基因 ID: 83596 | 基因类型: protein coding

关于 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.

功能概要

该基因编码含有 Bcl-2 同源结构域 2 (BH2) 的蛋白质家族成员。编码的蛋白质是一种抗凋亡因子,在细胞质中充当半胱天冬酶 3 和 7 的抑制剂。在细胞核中,它与 p53 肿瘤抑制蛋白结合,阻止其与靶基因结合。已在许多不同的癌症中检测到该基因的过度表达。该基因在 3 号染色体上有一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19376117 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in inhibition of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: 通过直接分析推断
22262180 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
22262180 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
20837658 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

bcl-2-like protein 12

BCL2-like 12 (proline rich)

重组 BCL2L12 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76165 BCL2L12 Protein, Human (GST) Q9HB09-1 (P64-K143) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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