ENSG00000143373


Homo sapiens

Features
Gene ID: ENSG00000143373
  
Biological name :ZNF687
  
Synonyms : Q8N1G0 / zinc finger protein 687 / ZNF687
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q21.3
Gene start: 151281618
Gene end: 151292180
  
Corresponding Affymetrix probe sets: 234924_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398821
Ensembl peptide - ENSP00000395261
Ensembl peptide - ENSP00000415286
Ensembl peptide - ENSP00000416942
Ensembl peptide - ENSP00000319829
Ensembl peptide - ENSP00000336620
NCBI entrez gene - 57592     See in Manteia.
OMIM - 610568
RefSeq - XM_011509813
RefSeq - NM_001304763
RefSeq - NM_001304764
RefSeq - NM_020832
RefSeq - XM_005245366
RefSeq - XM_011509811
RefSeq - XM_011509812
RefSeq Peptide - NP_065883
RefSeq Peptide - NP_001291693
RefSeq Peptide - NP_001291692
swissprot - H0Y5I5
swissprot - Q8N1G0
swissprot - A2A3Q2
swissprot - A6PVV7
swissprot - F8WCX2
Ensembl - ENSG00000143373
  
Related genetic diseases (OMIM): 616833 - Paget disease of bone 6, 616833

This gene has been taged as a transcription factor by TFT
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
 F6NSX9ENSDARG00000019299Danio rerio
 znf687aENSDARG00000102774Danio rerio
 ZNF687ENSGALG00000040270Gallus gallus
 Q9D2D7ENSMUSG00000019338Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9HCE3 / ZNF532 / zinc finger protein 532ENSG0000007465737
Q92610 / ZNF592 / zinc finger protein 592ENSG0000016671631


Protein motifs (from Interpro)
Interpro ID Name
 IPR013087  Zinc finger C2H2-type
 IPR026939  At2g23090-like
 IPR036236  Zinc finger C2H2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


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:0000121 Nephrocalcinosis 
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 HP:0001677 Coronary artery disease 
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 HP:0001712 Left ventricular hypertrophy 
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 HP:0002653 Bone pain 
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002758 Osteoarthritis 
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 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
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 HP:0003581 Onset in adulthood 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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