Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	153562
Gene name	MARVEL domain containing 2
Gene symbol	MARVELD2
Synonyms (NCBI Gene)	DFNB49MARVD2MRVLDC2Tric
Chromosome	5
Chromosome location	5q13.2
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

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736168	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs72773422	T>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs118203957	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs143592561	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs144717803	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs150434290	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200781822	G>A	Pathogenic	Splice acceptor variant
rs748539820	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs762352115	G>A	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs770042200	TTTGGAATTAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs993107184	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1336624126	C>G	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1554046316	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561291313	G>A	Pathogenic	Coding sequence variant, stop gained
rs1561299289	->A	Pathogenic	Coding sequence variant, frameshift variant

141

Show/Hide all (141)

miRTarBase ID	miRNA	Experiments	Reference
MIRT314164	hsa-miR-548an	PAR-CLIP	21572407
MIRT551307	hsa-miR-5692a	PAR-CLIP	21572407
MIRT314162	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT314163	hsa-miR-3714	PAR-CLIP	21572407
MIRT551306	hsa-miR-1179	PAR-CLIP	21572407
MIRT314161	hsa-miR-2682-5p	PAR-CLIP	21572407
MIRT314156	hsa-miR-34b-5p	PAR-CLIP	21572407
MIRT314158	hsa-miR-449c-5p	PAR-CLIP	21572407
MIRT314157	hsa-miR-545-5p	PAR-CLIP	21572407
MIRT408433	hsa-miR-621	PAR-CLIP	21572407
MIRT314152	hsa-miR-4293	PAR-CLIP	23446348
MIRT314150	hsa-miR-1244	PAR-CLIP	23446348
MIRT314154	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT314155	hsa-miR-7977	PAR-CLIP	23446348
MIRT458504	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT458503	hsa-miR-5186	PAR-CLIP	23592263
MIRT458502	hsa-miR-4537	PAR-CLIP	23592263
MIRT458501	hsa-miR-6134	PAR-CLIP	23592263
MIRT458500	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT458499	hsa-miR-6086	PAR-CLIP	23592263
MIRT458498	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT458497	hsa-miR-4252	PAR-CLIP	23592263
MIRT458496	hsa-miR-3689d	PAR-CLIP	23592263
MIRT458495	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT458494	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT458493	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT458492	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT458491	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT458490	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT458489	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT458488	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT314164	hsa-miR-548an	PAR-CLIP	21572407
MIRT551307	hsa-miR-5692a	PAR-CLIP	21572407
MIRT314162	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT314163	hsa-miR-3714	PAR-CLIP	21572407
MIRT551306	hsa-miR-1179	PAR-CLIP	21572407
MIRT314161	hsa-miR-2682-5p	PAR-CLIP	21572407
MIRT314156	hsa-miR-34b-5p	PAR-CLIP	21572407
MIRT314158	hsa-miR-449c-5p	PAR-CLIP	21572407
MIRT314157	hsa-miR-545-5p	PAR-CLIP	21572407
MIRT408433	hsa-miR-621	PAR-CLIP	21572407
MIRT314152	hsa-miR-4293	PAR-CLIP	23446348
MIRT314150	hsa-miR-1244	PAR-CLIP	23446348
MIRT314154	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT314155	hsa-miR-7977	PAR-CLIP	23446348
MIRT458504	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT458503	hsa-miR-5186	PAR-CLIP	23592263
MIRT458502	hsa-miR-4537	PAR-CLIP	23592263
MIRT458501	hsa-miR-6134	PAR-CLIP	23592263
MIRT458500	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT458499	hsa-miR-6086	PAR-CLIP	23592263
MIRT458498	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT458497	hsa-miR-4252	PAR-CLIP	23592263
MIRT458496	hsa-miR-3689d	PAR-CLIP	23592263
MIRT458495	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT458494	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT458493	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT458492	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT458491	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT458490	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT458489	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT458488	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT1132889	hsa-miR-1273e	CLIP-seq
MIRT1132890	hsa-miR-2964a-3p	CLIP-seq
MIRT1132891	hsa-miR-302f	CLIP-seq
MIRT1132892	hsa-miR-3150a-5p	CLIP-seq
MIRT1132893	hsa-miR-3150b-5p	CLIP-seq
MIRT1132894	hsa-miR-3613-3p	CLIP-seq
MIRT1132895	hsa-miR-3688-5p	CLIP-seq
MIRT1132896	hsa-miR-371-5p	CLIP-seq
MIRT1132897	hsa-miR-371b-5p	CLIP-seq
MIRT1132898	hsa-miR-4321	CLIP-seq
MIRT1132899	hsa-miR-4455	CLIP-seq
MIRT1132900	hsa-miR-4684-5p	CLIP-seq
MIRT1132901	hsa-miR-4768-3p	CLIP-seq
MIRT1132902	hsa-miR-4781-5p	CLIP-seq
MIRT1132903	hsa-miR-644	CLIP-seq
MIRT1132904	hsa-miR-885-3p	CLIP-seq
MIRT1132889	hsa-miR-1273e	CLIP-seq
MIRT2267912	hsa-miR-1227	CLIP-seq
MIRT1132889	hsa-miR-1273e	CLIP-seq
MIRT2267913	hsa-miR-194	CLIP-seq
MIRT2267914	hsa-miR-217	CLIP-seq
MIRT1132890	hsa-miR-2964a-3p	CLIP-seq
MIRT1132891	hsa-miR-302f	CLIP-seq
MIRT1132892	hsa-miR-3150a-5p	CLIP-seq
MIRT1132893	hsa-miR-3150b-5p	CLIP-seq
MIRT1132900	hsa-miR-4684-5p	CLIP-seq
MIRT1132901	hsa-miR-4768-3p	CLIP-seq
MIRT2267915	hsa-miR-548c-3p	CLIP-seq
MIRT2267916	hsa-miR-555	CLIP-seq
MIRT2267917	hsa-miR-661	CLIP-seq
MIRT2267912	hsa-miR-1227	CLIP-seq
MIRT1132889	hsa-miR-1273e	CLIP-seq
MIRT2267913	hsa-miR-194	CLIP-seq
MIRT2267914	hsa-miR-217	CLIP-seq
MIRT1132890	hsa-miR-2964a-3p	CLIP-seq
MIRT1132891	hsa-miR-302f	CLIP-seq
MIRT1132901	hsa-miR-4768-3p	CLIP-seq
MIRT2267916	hsa-miR-555	CLIP-seq
MIRT2267917	hsa-miR-661	CLIP-seq
MIRT1132889	hsa-miR-1273e	CLIP-seq
MIRT1132890	hsa-miR-2964a-3p	CLIP-seq
MIRT1132891	hsa-miR-302f	CLIP-seq
MIRT1132892	hsa-miR-3150a-5p	CLIP-seq
MIRT1132893	hsa-miR-3150b-5p	CLIP-seq
MIRT1132898	hsa-miR-4321	CLIP-seq
MIRT1132900	hsa-miR-4684-5p	CLIP-seq
MIRT1132901	hsa-miR-4768-3p	CLIP-seq
MIRT1132902	hsa-miR-4781-5p	CLIP-seq
MIRT2267915	hsa-miR-548c-3p	CLIP-seq
MIRT1132889	hsa-miR-1273e	CLIP-seq
MIRT1132890	hsa-miR-2964a-3p	CLIP-seq
MIRT1132891	hsa-miR-302f	CLIP-seq
MIRT1132892	hsa-miR-3150a-5p	CLIP-seq
MIRT1132893	hsa-miR-3150b-5p	CLIP-seq
MIRT1132900	hsa-miR-4684-5p	CLIP-seq
MIRT1132901	hsa-miR-4768-3p	CLIP-seq
MIRT2267915	hsa-miR-548c-3p	CLIP-seq
MIRT1132889	hsa-miR-1273e	CLIP-seq
MIRT1132890	hsa-miR-2964a-3p	CLIP-seq
MIRT1132891	hsa-miR-302f	CLIP-seq
MIRT1132892	hsa-miR-3150a-5p	CLIP-seq
MIRT1132893	hsa-miR-3150b-5p	CLIP-seq
MIRT1132898	hsa-miR-4321	CLIP-seq
MIRT1132900	hsa-miR-4684-5p	CLIP-seq
MIRT1132901	hsa-miR-4768-3p	CLIP-seq
MIRT1132902	hsa-miR-4781-5p	CLIP-seq
MIRT2267915	hsa-miR-548c-3p	CLIP-seq
MIRT2267912	hsa-miR-1227	CLIP-seq
MIRT1132889	hsa-miR-1273e	CLIP-seq
MIRT2267913	hsa-miR-194	CLIP-seq
MIRT1132890	hsa-miR-2964a-3p	CLIP-seq
MIRT1132891	hsa-miR-302f	CLIP-seq
MIRT1132892	hsa-miR-3150a-5p	CLIP-seq
MIRT1132893	hsa-miR-3150b-5p	CLIP-seq
MIRT1132898	hsa-miR-4321	CLIP-seq
MIRT1132900	hsa-miR-4684-5p	CLIP-seq
MIRT1132901	hsa-miR-4768-3p	CLIP-seq
MIRT1132902	hsa-miR-4781-5p	CLIP-seq
MIRT2267915	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20164257, 23239027, 26822058, 28661558, 32296183
GO:0005737	Component	Cytoplasm	IDA	23073616
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	20164257, 23073616
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	17186462
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	23073616
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	23073616
GO:0030054	Component	Cell junction	IDA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IDA	20164257
GO:0033010	Component	Paranodal junction	IEA
GO:0043220	Component	Schmidt-Lanterman incisure	IEA
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0045216	Process	Cell-cell junction organization	IMP	20164257
GO:0061028	Process	Establishment of endothelial barrier	IMP	23073616
GO:0061689	Component	Tricellular tight junction	IDA	28661558
GO:0061689	Component	Tricellular tight junction	IEA
GO:0070160	Component	Tight junction	IDA	23239027
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0070830	Process	Bicellular tight junction assembly	IMP	20164257, 23073616

MIM	HGNC	e!Ensembl
610572	26401	ENSG00000152939

Q8N4S9

Protein name

MARVEL domain-containing protein 2 (Tricellulin)

Protein function

Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner

PDB

5N7H , 5N7I , 5N7K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01284	MARVEL	185 → 361	Membrane-associating domain	Domain
PF07303	Occludin_ELL	446 → 548	Occludin homology domain	Domain

Sequence

MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPD
FYSSDTEEPAIAPDLKPVRRFVPDSWKNFFRGKKKDPEWDKPVSDIRYISDGVECSPPAS
PARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYN
LRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWYNLFGYSQPYGMGGVGGLG
SMYGGYYYTGPKTPFVLVVAGLAWITTIIILVLGMSMYYRTILLDSNWWPLTEFGINVAL
FILYMAAAIVYVNDTNRGGLCYYPLFNTPVNAVFCRVEGGQIAAMIFLFVTMIVYLISAL
VCLKLWRHEAARRHREYMEQQEINEPSLSSKRKMCEMATSGDRQRDSEVNFKELRTAKMK
PELLSGHIPPGHIPKPIVMPDYVAKYPVIQTDDERERYKAVFQDQFSEYKELSAEVQAVL
RKFDELDAVMSRLPHHSESRQEHERISRIHEEFKKKKNDPTFLEKKERCDYLKNKLSHIK
QRIQEYDKVMNWDVQGYS

Sequence length

558

Interactions

View interactions

	KEGG
	Tight junction

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 49	Likely pathogenic; Pathogenic	rs2150915422, rs772030670, rs748896801, rs2150914115, rs200781822, rs1174369347, rs118203957, rs762352115, rs35496654, rs531073647, rs2150915254, rs772048719	RCV001822913 RCV001822914 RCV005635190 RCV001728010 RCV000001254 RCV000001255 RCV000714759 RCV000001258 RCV003314437 RCV005645793 RCV005255818 RCV001799517
Deafness	Likely pathogenic; Pathogenic	rs1561299289	RCV000679820
Ear malformation	Likely pathogenic; Pathogenic	rs118203957	RCV001813930
Hearing impairment	Likely pathogenic; Pathogenic	rs770042200, rs772048719	RCV001375257 RCV001375176
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1561299289, rs1766596437	RCV001291457 RCV001291456
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs772048719	RCV006252572
Rare genetic deafness	Likely pathogenic; Pathogenic	rs118203957, rs762352115, rs531073647	RCV000156595 RCV000214632 RCV004018221

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Ehlers-Danlos syndrome, spondylodysplastic type, 2	Uncertain significance	rs1243425194	RCV005860321
Familial cancer of breast	Benign	rs299099	RCV005889034
Gastric cancer	Uncertain significance	rs567232523	RCV005931958
Hepatocellular carcinoma	Benign	rs299099	RCV005889035
MARVELD2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs143508474, rs139854607, rs201914751, rs138680809, rs144717803, rs147493796, rs568560843, rs770894315	RCV003913565 RCV003975211 RCV003975176 RCV003927452 RCV004730924 RCV003912511 RCV003928026 RCV003953539
See cases	Uncertain significance	rs774571921	RCV003128474

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	27641742
Autism Spectrum Disorder	Associate	27957319
Carcinoma Hepatocellular	Associate	24652413
Carcinoma Non Small Cell Lung	Associate	26755624
Cardiomyopathy Hypertrophic	Associate	28586052
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	25467444
Cockayne Syndrome	Associate	29531219
Colitis Ulcerative	Inhibit	28612843, 33789594
Colorectal Neoplasms	Associate	33000262
Crohn Disease	Associate	33105684
Cytokine Release Syndrome	Inhibit	33660567
Deafness	Associate	25885414
Drug Related Side Effects and Adverse Reactions	Associate	25755282
Fetal Growth Retardation	Associate	31226440
Genetic Diseases Inborn	Associate	31226440
Hearing Loss	Associate	18084694, 25885414, 29752989, 40244166
Hearing Loss Sensorineural	Associate	25885414
Hereditary Sensory and Autonomic Neuropathies	Associate	28623285
Inflammation	Associate	28176790, 36672170
Leukemia Lymphocytic Chronic B Cell	Associate	16081691, 20122733
Lymphatic Metastasis	Associate	27641742
Lymphatic Metastasis	Stimulate	33000262
Neoplasm Metastasis	Associate	33000262
Neoplasms	Associate	24940735, 28623285, 33000262
Nervous System Diseases	Associate	28623285
Neurodegenerative Diseases	Associate	25755282
Nonsyndromic sensorineural hearing loss	Associate	18084694, 30406641
Pancreatic Neoplasms	Associate	27641742
Pre Eclampsia	Associate	31226440
Stomach Neoplasms	Associate	20332670
Whipple Disease	Associate	28176790

MARVELD2 (MARVEL domain containing 2)