ENSG00000213123


Homo sapiens

Features
Gene ID: ENSG00000213123
  
Biological name :TCTEX1D2
  
Synonyms : Q8WW35 / TCTEX1D2 / Tctex1 domain containing 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q29
Gene start: 196291219
Gene end: 196318299
  
Corresponding Affymetrix probe sets: 228606_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000415835
Ensembl peptide - ENSP00000324323
Ensembl peptide - ENSP00000410605
NCBI entrez gene - 255758     See in Manteia.
OMIM - 617353
RefSeq - NM_152773
RefSeq - NM_001351628
RefSeq Peptide - NP_001338557
RefSeq Peptide - NP_689986
swissprot - Q8WW35
swissprot - E7ER86
swissprot - F8WD40
Ensembl - ENSG00000213123
  
Related genetic diseases (OMIM): 617405 - Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
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
 tctex1d2ENSDARG00000054255Danio rerio
 ENSGALG00000027722Gallus gallus
 Q9CQ66ENSMUSG00000014075Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC069257.3ENSG0000027274165
Q8N7M0 / TCTEX1D1 / Tctex1 domain containing 1ENSG0000015276029
Q5JR98 / TCTEX1D4 / Tctex1 domain containing 4ENSG0000018839626
TCTE3 / Q8IZS6 / t-complex-associated-testis-expressed 3ENSG0000018478620


Protein motifs (from Interpro)
Interpro ID Name
 IPR005334  Tctex-1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:1902017 regulation of cilium assembly IMP
 biological_processGO:1905799 regulation of intraciliary retrograde transport IMP
 cellular_componentGO:0000922 spindle pole IDA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005868 cytoplasmic dynein complex IDA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0031021 interphase microtubule organizing center IDA
 cellular_componentGO:0097546 ciliary base IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0045505 dynein intermediate chain binding IPI


Pathways (from Reactome)
Pathway description
Intraflagellar transport


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:0001156 Brachydactyly 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0010442 Polydactyly 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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