1. Gene
  2. EMC10 - ER membrane protein complex subunit 10 Gene

EMC10 - ER membrane protein complex subunit 10 Gene

Homo sapiens

Also known as HSM1; HSS1; NEDDFAS; C19orf63

Gene ID: 284361 | Gene type: protein coding

About EMC10

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,476,507-50,490,871 (from NCBI)

This gene has 8 transcripts (splice variants), 182 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 28.0), testis (RPKM 24.5) and 25 other tissues.

Summary

Contributes to membrane insertase activity. Involved in positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in extracellular region. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]

EMC10 Products(2)

mRNA Protein Name
NM_175063.6 NP_778233.4 ER membrane protein complex subunit 10 isoform 1 precursor
NM_206538.4 NP_996261.1 ER membrane protein complex subunit 10 isoform 2 precursor
Protein Preferred Names Protein Names

ER membrane protein complex subunit 10

UPF0510 protein INM02

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures

NEDDFAS

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Atrial Septal Defect 1

ASD1

Atrial Heart Septal Defect 1

Asd

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
Felis catus EMC10 VGNC VGNC:61832
Rattus norvegicus EMC10 RGD RGD:1303214
Bos taurus EMC10 VGNC VGNC:28462
Mus musculus EMC10 MGD MGI:1916933
Canis familiaris EMC10 VGNC VGNC:40332
Macaca mulatta EMC10 VGNC VGNC:103812