ERMARD - ER membrane associated RNA degradation Gene

Homo sapiens

Also known as PVNH6; C6orf70; dJ266L20.3

Gene ID: 55780 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04504	ERMARD Human Pre-designed siRNA Set A		/	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

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