Entity Details

Primary name LBN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86UK5
EntryNameLBN_HUMAN
FullNameLimbin
TaxID9606
Evidenceevidence at transcript level
Length1308
SequenceStatuscomplete
DateCreated2003-11-07
DateModified2021-06-02

Ontological Relatives

GenesEVC2

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0007224 smoothened signaling pathway
GO:0016021 integral component of membrane
GO:0060170 ciliary membrane
GO:0098797 plasma membrane protein complex

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR022076 LimbinFamilyFamily
IPR026501 Limbin/Ellis-van Creveld proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
193530 OMIMAcrofacial dysostosis, Weyers type (WAD)An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome. The disease is caused by variants affecting the gene represented in this entry.
225500 OMIMEllis-van Creveld syndrome (EVC)An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
LBN_HUMANSMAD9_HUMANBioGRID, HPRD, MINT15231748 details
LBN_HUMANBAF_HUMANBioGRID19759913 details