ERMARD - ER membrane associated RNA degradation Gene

Also Known as PVNH6; C6orf70; dJ266L20.3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55780

About ERMARD

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:169,751,306-169,781,600 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 135 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 11.2), thyroid (RPKM 6.1) and 25 other tissues.

Summary

The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

ERMARD Products (5)

mRNA Protein Name
NM_001278531.2 NP_001265460.1 endoplasmic reticulum membrane-associated RNA degradation protein isoform 2
NM_001278532.2 NP_001265461.1 endoplasmic reticulum membrane-associated RNA degradation protein isoform 3
NM_001278533.2 NP_001265462.1 endoplasmic reticulum membrane-associated RNA degradation protein isoform 4
NM_001410957.1 NP_001397886.1 endoplasmic reticulum membrane-associated RNA degradation protein isoform 5
NM_018341.3 NP_060811.1 endoplasmic reticulum membrane-associated RNA degradation protein isoform 1

ERMARD Protein Structure

DUF4209

DUF4209: Domain of unknown function (DUF4209) (130 - 214)

  • 0
  • 200
  • 400
  • 600
  • 678 a.a.
Protein Preferred Names Protein Names

endoplasmic reticulum membrane-associated RNA degradation protein

  • transmembrane protein C6orf70

Related Diseases

Diseases Alias
Periventricular Nodular Heterotopia 6

  • PVNH6

  • Heterotopia, Nodular, Periventricular, Type 6
Periventricular Nodular Heterotopia

  • Periventricular Heterotopia

  • Pvnh

  • Familial Nodular Heterotopia

  • Heterotopia, Periventricular

  • Periventricular Heterotopia, X-Linked
6q Terminal Deletion Syndrome
Chromosome 6q24-Q25 Deletion Syndrome

  • Chromosome 6q25-Q25 Deletion Syndrome

  • 6q25 Microdeletion Syndrome

  • Monosomy 6q25

  • Del(6)(Q25)
Van Maldergem Syndrome

  • Van Maldergem Wetzburger Verloes Syndrome

  • Cerebro-Facio-Articular Syndrome

  • Cerebro-Facio-Articular Syndrome Of Van Maldergem

  • Cerebrofacioarticular Syndrome

  • Cerebro Facio Articular Syndrome

  • Van Maldergem-Wetzburger-Verloes Syndrome
Strabismic Amblyopia

  • Suppression Amblyopia

  • Amblyopia

  • Amblyopia, Suppression
Band Heterotopia

  • Subcortical Band Heterotopia

  • Double Cortex Syndrome

  • Subcortical Laminar Heterotopia

  • Double Cortex

  • Band Heterotopia Of Brain

  • BH

  • Heco

  • Heterotopic Cortex

  • Familial Band Heterotopia

  • Dc

  • Dc Syndrome

  • Heterotopia, Subcortical Band

  • Sbh

  • Sclh

  • Bhy
Strabismus

  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1
Polymicrogyria

  • Pmg
Walker-Warburg Syndrome

  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04504 ERMARD Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ERMARD VGNC VGNC:40461
Macaca mulatta ERMARD VGNC VGNC:72309
Bos taurus ERMARD VGNC VGNC:28590
Rattus norvegicus ERMARD RGD RGD:1309374
Felis catus ERMARD VGNC VGNC:61951
Mus musculus ERMARD MGD MGI:1917317
Others ERMARD NCBI