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IGSF3
Identifiers
Aliases	IGSF3, EWI-3, V8, LCDD, immunoglobulin superfamily member 3
External IDs	OMIM: 603491; MGI: 1926158; HomoloGene: 1182; GeneCards: IGSF3; OMA:IGSF3 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p13.1 Start 116,574,399 bp End 116,667,755 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3 F2.2|3 44.3 cM Start 101,284,399 bp End 101,370,375 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gingival epithelium tibia ganglionic eminence vulva hair follicle middle temporal gyrus placenta ventricular zone oral cavity renal medulla Top expressed in cumulus cell hand superior cervical ganglion molar endocardial cushion oocyte secondary oocyte primary oocyte zygote sexually immature organism More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function Cellular component membrane cell surface plasma membrane integral component of membrane Biological process lacrimal gland development cell surface receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3321 78908 Ensembl ENSG00000143061 ENSMUSG00000042035 UniProt O75054 Q6ZQA6 RefSeq (mRNA) NM_001007237 NM_001542 NM_207205 RefSeq (protein) NP_001007238 NP_001533 NP_997088 NP_001391335 NP_001391336 NP_001391337 Location (UCSC) Chr 1: 116.57 – 116.67 Mb Chr 3: 101.28 – 101.37 Mb PubMed search
Wikidata
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Immunoglobulin superfamily member 3 is a protein that in humans is encoded by the IGSF3 gene.

Function

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). .

References

1. ^ GRCh38: Ensembl release 89: ENSG00000143061 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000042035 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Immunoglobulin superfamily member 3". Retrieved 2018-10-06.

Further reading

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• Genes on human chromosome 1
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