1. Gene
  2. PDCD6 - programmed cell death 6 Gene

PDCD6 - programmed cell death 6 Gene

中文名称:程序性细胞死亡 6

种属: Homo sapiens

同用名: ALG2; ALG-2; PEF1B

基因 ID: 10016 | 基因类型: protein coding

关于 PDCD6

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:271,646-314,974 (from NCBI)

This gene has 12 transcripts (splice variants), 189 orthologues and 20 paralogues. Ubiquitous expression in colon (RPKM 23.5), adrenal (RPKM 21.4) and 25 other tissues.

功能概要

该基因编码属于 penta-EF-hand 蛋白家族的钙结合蛋白。钙结合对于同二聚化和与其他蛋白质伙伴结合所需的构象变化很重要。该基因产物参与 T 细胞受体、Fas 和糖皮质激素诱导的程序性细胞死亡。然而,在缺乏该基因产物的小鼠中,细胞凋亡未被阻断,表明该基因产物在功能上是多余的。已观察到该基因编码多种亚型的选择性剪接转录变体,该基因的假基因也位于 5 号染色体的短臂上。[RefSeq 提供,2012 年 5 月]

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, Apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]

PDCD6 基因产物(5)

mRNA Protein Name
NM_001267556.2 NP_001254485.1 programmed cell death protein 6 isoform 2
NM_001267557.2 NP_001254486.1 programmed cell death protein 6 isoform 3
NM_001267558.2 NP_001254487.1 programmed cell death protein 6 isoform 4
NM_001267559.2 NP_001254488.1 programmed cell death protein 6 isoform 5
NM_013232.4 NP_037364.1 programmed cell death protein 6 isoform 1

PDCD6 蛋白结构

EF-hand_8

EF-hand_8: EF-hand domain pair (40 - 89)

EF-hand_7

EF-hand_7: EF-hand domain pair (96 - 154)

  • 0
  • 100
  • 191 a.a.
蛋白主名 其他名称

programmed cell death protein 6

apoptosis-linked gene 2 protein homolog

关联疾病

疾病名称 别名
Ocular Melanoma

Intraocular Melanoma

Uveal Melanoma

Eye Melanoma

Melanoma Of Eye

Melanoma Of The Uvea

Malignant Melanoma Of Eye

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
Bos taurus PDCD6 VGNC VGNC:32663
Canis familiaris PDCD6 VGNC VGNC:44340
Rattus norvegicus PDCD6 RGD RGD:1311239
Felis catus PDCD6 VGNC VGNC:102284
Mus musculus PDCD6 MGD MGI:109283