1. Gene
  2. MUC20 - mucin 20, cell surface associated Gene

MUC20 - mucin 20, cell surface associated Gene

中文名称:粘蛋白 20,细胞表面相关

种属: Homo sapiens

同用名: MUC-20

基因 ID: 200958 | 基因类型: protein coding

关于 MUC20

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:195,720,978-195,733,551 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele and 73 orthologues. Broad expression in gall bladder (RPKM 28.1), colon (RPKM 25.9) and 17 other tissues.

功能概要

该基因编码粘蛋白家族的一个成员。粘蛋白是由许多上皮组织分泌的高分子量糖蛋白,可形成不溶性粘液屏障。该家族成员的 C 端与 MET 原癌基因的多功能停靠位点相关联,并抑制一些下游 MET 信号级联的激活。该蛋白质具有粘蛋白串联重复结构域,在大多数个体中该结构域在 2 到 6 个拷贝之间变化。已发现该基因编码不同亚型的多个变体。已经确定了一个相关的假基因,它也位于 3 号染色体上。[RefSeq 提供,2014 年 4 月]

This gene encodes a member of the Mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a Mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]

MUC20 基因产物(4)

mRNA Protein Name
NM_001282506.2 NP_001269435.1 mucin-20 isoform a precursor
NM_001291833.1 NP_001278762.1 mucin-20 isoform c precursor
NM_020790.1 NP_065841.1 mucin-20 isoform d precursor
NM_152673.3 NP_689886.3 mucin-20 isoform b precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15314156 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basal plasma membrane IDA
IDA: 通过直接分析推断
15314156 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

mucin-20

transmembrane mucin MUC20S

关联疾病

疾病名称 别名
Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma

Childhood Carcinoma Of Liver Cell

Childhood Hepatoma

Childhood Liver Cell Carcinoma

Pediatric Carcinoma Of Liver Cell

Pediatric Hepatoma

Pediatric Liver Cell Carcinoma

Childhood-Onset Hcc

Childhood-Onset Hepatocellular Carcinoma

Pediatric Hcc

Childhood Liver Cancer

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
Canis familiaris MUC20 VGNC VGNC:43500
Rattus norvegicus MUC20 RGD RGD:1304865
Macaca mulatta MUC20 VGNC VGNC:75008
Felis catus MUC20 VGNC VGNC:108367
Mus musculus MUC20 MGD MGI:2385039
Bos taurus MUC20 VGNC VGNC:54458