RBCC Red Blood Cell Collection

MALD2_HUMAN

Source: PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: MARVELD2 , TRIC
Protein names and data: MALD2_HUMAN , MARVEL domain-containing protein 2 , Tricellulin Lenght: 558 a.a.
Mass: 64168 Da
fasta formatted sequence
Function: Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.
Disease: ( OMIM: 610153 610572 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Multi-pass membrane protein. Cell junction, tight junction (By similarity). Note=Found at tricellular contacts (By similarity).

Genetic variants

33 - 33 T -> I (in dbSNP:rs1185246). VAR_047436 1185246

Database cross-references

UniProt: Q8N4S9
Ensembl: ENST00000325631
Ensembl: ENST00000454295
Ensembl: ENST00000573599
Ensembl: ENST00000576933
MIM: 610153
MIM: 610572
neXtProt: NX_Q8N4S9
Antibodypedia: Q8N4S9 (may not find the protein thus also not any antibody)
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