2. Gene
  3. ERMARD - ER membrane associated RNA degradation Gene

ERMARD - ER membrane associated RNA degradation Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：内质网膜相关的 RNA 降解

种属: Homo sapiens

同用名: PVNH6; C6orf70; dJ266L20.3

基因 ID: 55780 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质在 C 末端附近包含 2 个跨膜结构域，位于内质网中。在发育中的大鼠大脑中敲除该基因表明它可能参与神经元迁移。该基因的突变与脑室周围结节性异位 6 (PVNH6) 相关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2013 年 12 月]

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 基因产物(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 蛋白结构

DUF4209

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

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

endoplasmic reticulum membrane-associated RNA degradation protein

transmembrane protein C6orf70

关联疾病

疾病名称 别名
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04504 ERMARD Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z