Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610572 26401 ENSG00000152939
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
V
CLKLWRHEAARRHREYMEQQEINEPSLSSKRKMCEMATSGDRQRDSEVNFKELRTAKMK
PELLSGHIPPGHIPKPIVMPDYVAKYPVIQTDDERERYKAVFQDQFSEYKELSAEVQAVL
RKFDELDAVMSRLPHHSESRQEHERISRIHEEFKKKKNDPTFLEKKERCDYLKNKLSHIK
QRIQEYDK
VMNWDVQGYS
Sequence length 558
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Tight junction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness Likely pathogenic; Pathogenic rs1561299289 RCV000679820
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation Likely pathogenic; Pathogenic rs118203957 RCV001813930
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment Likely pathogenic; Pathogenic rs770042200, rs772048719 RCV001375257
RCV001375176
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 49 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 30140950
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22394074
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 27957319 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Bardet-Biedl Syndrome Bardet-Biedl Syndrome BEFREE 22500027
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 24652413 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 28586052 Associate
★☆☆☆☆
Found in Text Mining only
Cholesteatoma Cholesteatoma BEFREE 25319490
★☆☆☆☆
Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias Lissencephaly Pubtator 25467444 Associate
★☆☆☆☆
Found in Text Mining only
Cockayne Syndrome Cockayne syndrome Pubtator 29531219 Associate
★☆☆☆☆
Found in Text Mining only