2. Gene
  3. RNF212 - ring finger protein 212 Gene

RNF212 - ring finger protein 212 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：无名指蛋白 212

种属: Homo sapiens

同用名: ZHP3; SPGF62

基因 ID: 285498 | 基因类型: protein coding

关于 RNF212

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,056,251-1,113,710 (from NCBI)

This gene has 16 transcripts (splice variants), 98 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in ovary (RPKM 1.7), testis (RPKM 1.5) and 20 other tissues.

功能概要

该基因编码一种环指蛋白，可作为泛素连接酶发挥作用。编码的蛋白质可能参与减数分裂重组。该基因位于连锁不平衡块内，该基因的多态性可能影响重组率。交替剪接导致多个转录变体。[RefSeq 提供，2010 年 10 月]

This gene encodes a RING finger protein that may function as a ubiquitin Ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

RNF212 基因产物(5)

mRNA Protein Name
NM_001131034.4 NP_001124506.1 probable E3 SUMO-protein ligase RNF212 isoform a
NM_001193318.3 NP_001180247.1 probable E3 SUMO-protein ligase RNF212 isoform c
NM_001366918.1 NP_001353847.1 probable E3 SUMO-protein ligase RNF212 isoform d
NM_001366919.1 NP_001353848.1 probable E3 SUMO-protein ligase RNF212 isoform e
NM_194439.5 NP_919420.1 probable E3 SUMO-protein ligase RNF212 isoform b

RNF212 蛋白结构

zf-RING_5

zf-RING_5: zinc-RING finger domain (7 - 46)

  • 0
  • 100
  • 200
  • 297 a.a.
蛋白主名 其他名称

probable E3 SUMO-protein ligase RNF212

probable E3 SUMO-protein transferase RNF212

关联疾病

疾病名称 别名
Spermatogenic Failure 62

SPGF62
Recombination Rate Quantitative Trait Locus 1

Recombination Rate Qtl 1

RRQTL1
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Infertility
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12077 RNF212 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus RNF212 MGD MGI:3645767
Canis familiaris RNF212 VGNC VGNC:45655
Macaca mulatta RNF212 VGNC VGNC:81558
Felis catus RNF212 VGNC VGNC:107442
Rattus norvegicus RNF212 RGD RGD:1588767
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