1. Gene
  2. NSUN7 - NOP2/Sun RNA methyltransferase family member 7 Gene

NSUN7 - NOP2/Sun RNA methyltransferase family member 7 Gene

中文名称:NOP2/Sun RNA 甲基转移酶家族成员 7

种属: Homo sapiens

基因 ID: 79730 | 基因类型: protein coding

关于 NSUN7

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:40,749,955-40,811,184 (from NCBI)

This gene has 7 transcripts (splice variants) and 213 orthologues. Broad expression in testis (RPKM 10.8), thyroid (RPKM 2.4) and 19 other tissues.

功能概要

预测启用 RNA 结合活性和甲基转移酶活性。预测参与甲基化。预计在带鞭毛的精子运动和精子线粒体组织的上游或内部起作用。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable RNA binding activity and methyltransferase activity. Predicted to be involved in methylation. Predicted to act upstream of or within flagellated sperm motility and sperm mitochondrion organization. [provided by Alliance of Genome Resources, Apr 2022]

NSUN7 基因产物(2)

mRNA Protein Name
NM_001330648.3 NP_001317577.1 putative methyltransferase NSUN7 isoform 2
NM_024677.6 NP_078953.4 putative methyltransferase NSUN7 isoform 1

NSUN7 蛋白结构

Methyltr_RsmB-F

Methyltr_RsmB-F: 16S rRNA methyltransferase RsmB/F (414 - 455)

  • 0
  • 200
  • 400
  • 600
  • 718 a.a.
蛋白主名 其他名称

putative methyltransferase NSUN7

NOL1/NOP2/Sun domain family member 7

关联疾病

疾病名称 别名
Dubowitz Syndrome

Dubowitz'S Syndrome

Dwarfism-Eczema-Peculiar Facies Syndrome

Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Cardiomyopathy, Familial Restrictive, 1

RCM1

Restrictive Cardiomyopathy 1

Rcm

Familial Restrictive Cardiomyopathy 1

Cardiomyopathy, Familial Restrictive 1

Cardiomyopathy, Restrictive, Familial, Type 1

Rcm-1

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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 NSUN7 VGNC VGNC:75463
Rattus norvegicus NSUN7 RGD RGD:1310137
Mus musculus NSUN7 MGD MGI:1918168
Bos taurus NSUN7 VGNC VGNC:32288
Canis familiaris NSUN7 VGNC VGNC:43993
Felis catus NSUN7 VGNC VGNC:63896