ENSG00000143061


Homo sapiens

Features
Gene ID: ENSG00000143061
  
Biological name :IGSF3
  
Synonyms : IGSF3 / immunoglobulin superfamily member 3 / O75054
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p13.1
Gene start: 116574399
Gene end: 116667755
  
Corresponding Affymetrix probe sets: 1552672_a_at (Human Genome U133 Plus 2.0 Array)   1556162_at (Human Genome U133 Plus 2.0 Array)   1556163_a_at (Human Genome U133 Plus 2.0 Array)   202421_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000321184
Ensembl peptide - ENSP00000358495
Ensembl peptide - ENSP00000358498
Ensembl peptide - ENSP00000474657
NCBI entrez gene - 3321     See in Manteia.
OMIM - 603491
RefSeq - XM_011541315
RefSeq - NM_001007237
RefSeq - NM_001542
RefSeq - XM_005270793
RefSeq - XM_005270794
RefSeq - XM_006710593
RefSeq Peptide - NP_001533
RefSeq Peptide - NP_001007238
swissprot - O75054
Ensembl - ENSG00000143061
  
Related genetic diseases (OMIM): 149700 - ?Lacrimal duct defect, 149700
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 igsf3ENSDARG00000077002Danio rerio
 ENSGALG00000036738Gallus gallus
 Igsf3ENSMUSG00000042035Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CD101 / Q93033 / CD101 moleculeENSG0000013425631
PTGFRN / Q9P2B2 / prostaglandin F2 receptor inhibitorENSG0000013424717
IGSF8 / Q969P0 / immunoglobulin superfamily member 8ENSG0000016272915


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007166 cell surface receptor signaling pathway IBA
 biological_processGO:0032808 lacrimal gland development IMP
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0009986 cell surface HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IBA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000246 Sinusitis 
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 HP:0000509 Conjunctivitis "Inflammation of the conjunctiva." [HPO:curators]
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 HP:0000564 Lacrimal duct atresia 
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 HP:0000620 Dacrocystitis 
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 HP:0009926 Increased tear production "Abnormally in creased lacrimation." [HPO:curators]
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 HP:0030752 Dacryocystocele "A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve." [] {name="PMID:19205594", name="UToronto:chum"}
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 HP:0100539 Periorbital edema 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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