1. Gene
  2. RNF214 - ring finger protein 214 Gene

RNF214 - ring finger protein 214 Gene

中文名称:无名指蛋白 214

种属: Homo sapiens

基因 ID: 257160 | 基因类型: protein coding

关于 RNF214

This gene has 8 transcripts (splice variants) and 193 orthologues. Ubiquitous expression in testis (RPKM 13.2), thyroid (RPKM 7.5) and 25 other tissues.

功能概要

预计会启用泛素蛋白转移酶活性。预测参与蛋白质泛素化。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Apr 2022]

RNF214 基因产物(3)

mRNA Protein Name
NM_001077239.2 NP_001070707.1 RING finger protein 214 isoform 1
NM_001278249.2 NP_001265178.1 RING finger protein 214 isoform 2
NM_207343.4 NP_997226.2 RING finger protein 214 isoform 1
蛋白主名 其他名称

RING finger protein 214

关联疾病

疾病名称 别名
Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Ehlers-Danlos Syndrome, Musculocontractural Type 1

EDSMC1

Edsmc

Adducted Thumb-Clubfoot Syndrome

Atcs

Dundar Syndrome

Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis

Ehlers-Danlos Syndrome Musculocontractural Type 1

Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome

Ehlers-Danlos Syndrome, Type Vib, Formerly

Eds6b, Formerly

Adducted Thumbs-Arthrogryposis Dundar Type

Arthrogryposis Distal With Peculiar Facies And Hydronephrosis

Eds6b Formerly

Ehlers-Danlos Syndrome Type Vib Formerly

Ehlers-Danlos, Musculocontractural Syndrome, Type 1

Familial Retinoblastoma

Hereditary Retinoblastoma

Retinoblastoma

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
Macaca mulatta RNF214 VGNC VGNC:76816
Rattus norvegicus RNF214 RGD RGD:1307500
Felis catus RNF214 VGNC VGNC:64693
Bos taurus RNF214 VGNC VGNC:34051
Canis familiaris RNF214 VGNC VGNC:45658
Mus musculus RNF214 MGD MGI:2444451