Entity Details

Primary name IGSF3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75054
EntryNameIGSF3_HUMAN
FullNameImmunoglobulin superfamily member 3
TaxID9606
Evidenceevidence at transcript level
Length1194
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesIGSF3

GO terms

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GOName
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0032808 lacrimal gland development

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013106 Immunoglobulin V-set domainDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
149700 OMIMLacrimal duct defect (LCDD)A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
IGSF3_HUMANH4_HUMANBioGRID, IntAct30021884 details
IGSF3_HUMANGAN_HUMANBioGRID26460568 details