Entity Details

Primary name MPZL2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60487
EntryNameMPZL2_HUMAN
FullNameMyelin protein zero-like protein 2
TaxID9606
Evidenceevidence at protein level
Length215
SequenceStatuscomplete
DateCreated2002-03-27
DateModified2021-06-02

Ontological Relatives

GenesMPZL2

GO terms

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GOName
GO:0005856 cytoskeleton
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0009653 anatomical structure morphogenesis
GO:0016021 integral component of membrane

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR000920 Myelin P0 protein-relatedFamilyFamily
IPR003599 Immunoglobulin subtypeDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013106 Immunoglobulin V-set domainDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR029863 Myelin protein zero-like protein 2FamilyFamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618145 OMIMDeafness, autosomal recessive, 111 (DFNB111)A form of non-syndromic, sensorineural deafness characterized by early-onset, moderate to severe hearing loss with no vestibular involvement. 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.