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

NSUN7 - NOP2/Sun RNA methyltransferase family member 7 Gene

Homo sapiens
Gene ID: 79730 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Methyltr_RsmB-F

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

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  • 718 a.a.
Protein Preferred Names Protein Names

putative methyltransferase NSUN7

NOL1/NOP2/Sun domain family member 7

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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