Entity Details

Primary name MALD2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N4S9
EntryNameMALD2_HUMAN
FullNameMARVEL domain-containing protein 2
TaxID9606
Evidenceevidence at protein level
Length558
SequenceStatuscomplete
DateCreated2007-01-09
DateModified2021-06-02

Ontological Relatives

GenesMARVELD2

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005923 bicellular tight junction
GO:0007605 sensory perception of sound
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030054 cell junction
GO:0031410 cytoplasmic vesicle
GO:0033010 paranodal junction
GO:0043220 Schmidt-Lanterman incisure
GO:0045216 cell-cell junction organization
GO:0061028 establishment of endothelial barrier
GO:0061689 tricellular tight junction
GO:0070830 bicellular tight junction assembly

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane

Domains

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DomainNameCategoryType
IPR008253 Marvel domainDomainDomain
IPR010844 Occludin homology domainDomainDomain
IPR031176 ELL/occludin familyFamilyFamily
IPR031177 MARVEL domain-containing protein 2FamilyFamily

Diseases

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Disease IDSourceNameDescription
610153 OMIMDeafness, autosomal recessive, 49 (DFNB49)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions