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MARVELD2 - MARVEL domain containing 2 Gene

Also Known as Tric; DFNB49; MARVD2; MRVLDC2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 153562

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20164257	GOA

Biological Process GO Annotation	Evidence	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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