MARVELD2 - MARVEL domain containing 2 Gene

中文名称：含 MARVEL 域 2

种属: Homo sapiens

同用名: Tric; DFNB49; MARVD2; MRVLDC2

基因 ID: 153562 | 基因类型: protein coding

关于 MARVELD2

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:69,415,116-69,444,330 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 269 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 13.9), colon (RPKM 5.1) and 16 other tissues.

功能概要

由该基因编码的蛋白质是一种在上皮细胞之间的紧密连接处发现的膜蛋白。编码的蛋白质有助于建立上皮屏障，例如 Corti 器官中的屏障，这些屏障是正常听力所必需的。该基因的缺陷是常染色体隐性遗传 49 型 (DFNB49) 耳聋的原因。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2011 年 9 月]

The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

MARVELD2 基因产物(2)

mRNA	Protein	Name
NM_001038603.3	NP_001033692.2	MARVEL domain-containing protein 2 isoform 1
NM_001244734.2	NP_001231663.1	MARVEL domain-containing protein 2 isoform 2

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	20164257	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in bicellular tight junction assembly	IMP IMP: 通过突变表型推断	20164257	GOA
acts upstream of or within cell-cell junction organization	IMP IMP: 通过突变表型推断	20164257	GOA
involved in establishment of endothelial barrier	IMP IMP: 通过突变表型推断	23073616	GOA
acts upstream of or within sensory perception of sound	IMP IMP: 通过突变表型推断	17186462	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	23073616	GOA
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	23073616	GOA
located in bicellular tight junction	IDA IDA: 通过直接分析推断	20164257	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	23073616	GOA
located in cytoplasmic vesicle	IDA IDA: 通过直接分析推断	20164257	GOA
located in tight junction	IDA IDA: 通过直接分析推断	23239027	GOA
located in tricellular tight junction	IDA IDA: 通过直接分析推断	28661558	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MARVELD2 蛋白结构

MARVEL

Occludin_ELL

0
100
200
300
400
500
558 a.a.

蛋白主名

其他名称

MARVEL domain-containing protein 2

MARVEL (membrane-associating) domain containing 2

MARVELD2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	MARVELD2	Q8N4S9	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	32296183
种属内	MARVELD2	Q8N4S9	FATE1	Homo sapiens	Q969F0	Y2H Array	32296183
种属内	MARVELD2	Q8N4S9	FATE1	Homo sapiens	Q969F0	Validated Y2H	32296183
种属内	MARVELD2	Q8N4S9	PLG	Homo sapiens	P00747	SPR	26822058
种属内	MARVELD2	Q8N4S9	PLG	Homo sapiens	P00747	ELISA	26822058

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Deafness, Autosomal Recessive 49

DFNB49	Autosomal Recessive Nonsyndromic Deafness 49
Autosomal Recessive Deafness 49	Deafness, Autosomal Recessive, 49
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49
Deafness, Autosomal Recessive, Type 49

Ear Malformation

Cup Ear

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Rare Genetic Deafness

Rare Genetic Hearing Loss

Deafness, Autosomal Recessive

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive 42

DFNB42	Autosomal Recessive Nonsyndromic Deafness 42
Autosomal Recessive Deafness 42	Deafness, Autosomal Recessive, 42
Congenital Neurosensory Deafness Autosomal Recessive 42	Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42	Deafness, Autosomal Recessive, Type 42

Deafness, Autosomal Recessive 29

DFNB29	Autosomal Recessive Nonsyndromic Deafness 29
Autosomal Recessive Deafness 29	Deafness, Autosomal Recessive, 29
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29
Deafness, Autosomal Recessive, Type 29

Pseudo-Torch Syndrome 1

Pseudo-Torch Syndrome	Band-Like Calcification With Simplified Gyration And Polymicrogyria
Blcpmg	PTORCH1
Baraitser-Brett-Piesowicz Syndrome	Baraitser-Reardon Syndrome
Bilateral Band-Like Calcification With Polymicrogyria	Blc-Pmg
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome	Congenital Intrauterine Infection-Like Syndrome
Baraitser Brett Piesowicz Syndrome	Microcephaly - Intracranial Calcification - Intellectual Disability

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Celiac Disease 1

Celiac Disease	Coeliac Disease
Celiac Sprue	Celiac Disease, Susceptibility To
Gluten-Sensitive Enteropathy	Nontropical Sprue
Sprue	CELIAC1
Celiac Disease, Susceptibility To, 1	Celiac Sprue 1
Celiac Sprue, Susceptibility To, 1	Gluten-Sensitive Enteropathy 1
Gluten-Sensitive Enteropathy, Susceptibility To, 1	Idiopathic Steatorrhea
Cœliac Disease	Gluten Intolerance
Gluten-Induced Enteropathy	Gluten Enteropathy
Celiac Disease, Susceptibility To, Type 1	Childhood Celiac Disease
Coeliac Rickets	Gee Disease
Gee-Herter Disease	Heubner-Herter Disease
Idiopathic Steatorrhoea	Thaysen'S Disease
Herter Gee Syndrome

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08155	MARVELD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	MARVELD2	VGNC	VGNC:63392
Macaca mulatta	MARVELD2	VGNC	VGNC:74592
Rattus norvegicus	MARVELD2	RGD	RGD:1306909
Bos taurus	MARVELD2	VGNC	VGNC:31253
Canis familiaris	MARVELD2	VGNC	VGNC:43029
Mus musculus	MARVELD2	MGD	MGI:2446166

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
粤ICP备2021105330号-3 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2026 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MARVELD2 - MARVEL domain containing 2 Gene

关于 MARVELD2

功能概要

MARVELD2 基因产物(2)

MARVELD2 蛋白结构

MARVELD2 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

MARVELD2 - MARVEL domain containing 2 Gene

关于 MARVELD2

功能概要

MARVELD2 基因产物(2)

MARVELD2 蛋白结构

MARVELD2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z