Entity Details

Primary name MB212_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y586
EntryNameMB212_HUMAN
FullNameProtein mab-21-like 2
TaxID9606
Evidenceevidence at protein level
Length359
SequenceStatuscomplete
DateCreated2007-12-04
DateModified2021-06-02

Ontological Relatives

GenesMAB21L2

GO terms

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GOName
GO:0001654 eye development
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0007399 nervous system development
GO:0008284 positive regulation of cell population proliferation
GO:0010172 embryonic body morphogenesis
GO:0043010 camera-type eye development

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR000772 Ricin B, lectin domainDomainDomain
IPR020950 Protein 21-like 2FamilyFamily
IPR024810 Mab-21 domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615877 OMIMMicrophthalmia/coloboma and skeletal dysplasia syndrome (MCSKS)A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients. The disease is caused by variants affecting the gene represented in this entry.