MARVELD2
entrez
153562
canonical
uniprot
Q8N4S9
canonical
ensembl
ENSG00000152939
resolver
ensembl
ENSG00000274671
resolver
ensp
ENSP00000323264
resolver
ensp
ENSP00000396244
resolver
ensp
ENSP00000480044
resolver
ensp
ENSP00000480068
resolver
ensp
ENSP00000552703
resolver
ensp
ENSP00000552704
resolver
ensp
ENSP00000552706
resolver
enst
ENST00000614617
resolver
enst
ENST00000622835
resolver
genesymbol
MARVELD2
resolver
genesymbol_syn
TRIC
resolver
hgnc
HGNC:26401
resolver
uniprot
A1BQX0
resolver
uniprot
A1BQX1
resolver
uniprot
A8KA97
resolver
uniprot
Q96NM9
resolver
uniprot_entry
MALD2_HUMAN
resolver
uniprot_sec
A1BQX0
resolver
uniprot_sec
A1BQX1
resolver
uniprot_sec
A8KA97
resolver
uniprot_sec
Q96NM9
resolver
amino_acid_sequence
MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADPLPPPPLPLQPPFGPDFYSSDTEEPAIAPDLKPVRRFVPDSWKNFFRGKKKDPEWDKPVSDIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLDRHTQTVRTYSEKVEEYNLRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWYNLFGYSQPYGMGGVGGLGSMYGGYYYTGPKTPFVLVVAGLAWITTIIILVLGMSMYYRTILLDSNWWPLTEFGINVALFILYMAAAIVYVNDTNRGGLCYYPLFNTPVNAVFCRVEGGQIAAMIFLFVTMIVYLISALVCLKLWRHEAARRHREYMEQQEINEPSLSSKRKMCEMATSGDRQRDSEVNFKELRTAKMKPELLSGHIPPGHIPKPIVMPDYVAKYPVIQTDDERERYKAVFQDQFSEYKELSAEVQAVLRKFDELDAVMSRLPHHSESRQEHERISRIHEEFKKKKNDPTFLEKKERCDYLKNKLSHIKQRIQEYDKVMNWDVQGYS
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 49 (DFNB49) [MIM:610153]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:17186462}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462). {ECO:0000250|UniProtKB:Q3UZP0, ECO:0000269|PubMed:17186462}.
uniprot
proteins
mass_dalton
64168
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by ITCH; but this ubiquitination does not lead to proteasomal degradation (PubMed:28436082). Polyubiquitinated at Lys-412 via 'Lys-63'-linked ubiquitin chains; deubiquitinated by USP53 (PubMed:39587316). {ECO:0000269|PubMed:28436082, ECO:0000269|PubMed:39587316}.; PTM: Phosphorylated. {ECO:0000250|UniProtKB:Q3UZP0}.
uniprot
proteins
protein_family
ELL/occludin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16365161
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17186462
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28436082
uniprot
proteins
pubmed
28661558
uniprot
proteins
pubmed
39587316
uniprot
proteins
sequence_length
558
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28661558}; Multi-pass membrane protein {ECO:0000305}. Cell junction, tight junction {ECO:0000269|PubMed:28661558}. Note=Located at tricellular contacts. {ECO:0000269|PubMed:28661558}.
uniprot
proteins
transmembrane_region
TRANSMEM 195..215; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 224..244; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 255..275; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 292..312; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 320..337; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 342..362; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins