MARVELD2 - MARVEL domain containing 2 Gene

Homo sapiens

Also known as Tric; DFNB49; MARVD2; MRVLDC2

Gene ID: 153562 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20164257	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bicellular tight junction assembly	IMP IMP: Inferred from mutant phenotype	20164257	GOA
acts upstream of or within cell-cell junction organization	IMP IMP: Inferred from mutant phenotype	20164257	GOA
involved in establishment of endothelial barrier	IMP IMP: Inferred from mutant phenotype	23073616	GOA
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	17186462	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	23073616	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	23073616	GOA
located in bicellular tight junction	IDA IDA: Inferred from direct assay	20164257	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	23073616	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	20164257	GOA
located in tight junction	IDA IDA: Inferred from direct assay	23239027	GOA
located in tricellular tight junction	IDA IDA: Inferred from direct assay	28661558	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MARVELD2 Protein Structure

MARVEL

Occludin_ELL

0
100
200
300
400
500
558 a.a.

Protein Preferred Names

Protein Names

MARVEL domain-containing protein 2

MARVEL (membrane-associating) domain containing 2

MARVELD2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MARVELD2	Q8N4S9	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	32296183
Intra	MARVELD2	Q8N4S9	FATE1	Homo sapiens	Q969F0	Y2H Array	32296183
Intra	MARVELD2	Q8N4S9	FATE1	Homo sapiens	Q969F0	Validated Y2H	32296183
Intra	MARVELD2	Q8N4S9	PLG	Homo sapiens	P00747	SPR	26822058
Intra	MARVELD2	Q8N4S9	PLG	Homo sapiens	P00747	ELISA	26822058

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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-RS08155	MARVELD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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