ENSG00000187742


Homo sapiens

Features
Gene ID: ENSG00000187742
  
Biological name :SECISBP2
  
Synonyms : Q96T21 / SECIS binding protein 2 / SECISBP2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q22.2
Gene start: 89318506
Gene end: 89359662
  
Corresponding Affymetrix probe sets: 218265_at (Human Genome U133 Plus 2.0 Array)   224250_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000411573
Ensembl peptide - ENSP00000364959
Ensembl peptide - ENSP00000364965
Ensembl peptide - ENSP00000414288
Ensembl peptide - ENSP00000436650
NCBI entrez gene - 79048     See in Manteia.
OMIM - 607693
RefSeq - XM_017015125
RefSeq - NM_001282688
RefSeq - NM_001282689
RefSeq - NM_001282690
RefSeq - NM_024077
RefSeq - XM_011519000
RefSeq - XM_011519001
RefSeq - XM_011519002
RefSeq - XM_011519003
RefSeq - XM_017015122
RefSeq - XM_017015123
RefSeq - XM_017015124
RefSeq - XM_005252196
RefSeq - XM_005252202
RefSeq - XM_006717282
RefSeq Peptide - NP_001269619
RefSeq Peptide - NP_076982
RefSeq Peptide - NP_001269617
RefSeq Peptide - NP_001269618
swissprot - Q4V370
swissprot - Q5HYY5
swissprot - Q96T21
Ensembl - ENSG00000187742
  
Related genetic diseases (OMIM): 609698 - Thyroid hormone metabolism, abnormal, 609698
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
 secisbp2ENSDARG00000073892Danio rerio
 SECISBP2ENSGALG00000010694Gallus gallus
 Secisbp2ENSMUSG00000035139Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q93073 / SECISBP2L / SECIS binding protein 2 likeENSG0000013859329


Protein motifs (from Interpro)
Interpro ID Name
 IPR004038  Ribosomal protein L7Ae/L30e/S12e/Gadd45
 IPR029064  50S ribosomal protein L30e-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001514 selenocysteine incorporation IBA
 biological_processGO:0006412 translation IEA
 biological_processGO:0021756 striatum development IEA
 biological_processGO:0048666 neuron development IEA
 biological_processGO:2000623 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005739 mitochondrion IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003730 mRNA 3"-UTR binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0035368 selenocysteine insertion sequence binding IBA
 molecular_functionGO:0043021 ribonucleoprotein complex binding IBA


Pathways (from Reactome)
Pathway description
Selenocysteine synthesis


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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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002925 Increased serum thyroid-stimulating hormone (TSH) 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000132394 EEFSEC / P57772 / eukaryotic elongation factor, selenocysteine-tRNA specific  / complex / reaction






 

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