ENSG00000203908


Homo sapiens

Features
Gene ID: ENSG00000203908
  
Biological name :KHDC3L
  
Synonyms : KHDC3L / KH domain containing 3 like, subcortical maternal complex member / Q587J8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q13
Gene start: 73362677
Gene end: 73364171
  
Corresponding Affymetrix probe sets: 231474_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359392
NCBI entrez gene - 154288     See in Manteia.
OMIM - 611687
RefSeq - NM_001017361
RefSeq Peptide - NP_001017361
swissprot - Q587J8
Ensembl - ENSG00000203908
  
Related genetic diseases (OMIM): 614293 - Hydatidiform mole, recurrent, 2, 614293
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
 Gm20509ENSMUSG00000092310Mus musculus
 Khdc3ENSMUSG00000092622Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
OOEP / A6NGQ2 / oocyte expressed proteinENSG0000020390717


Protein motifs (from Interpro)
Interpro ID Name
 IPR031952  KH-like RNA-binding domain
 IPR036612  K Homology domain, type 1 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008150 biological_process ND
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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