ENSG00000109705


Homo sapiens

Features
Gene ID: ENSG00000109705
  
Biological name :NKX3-2
  
Synonyms : NK3 homeobox 2 / NKX3-2 / P78367
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p15.33
Gene start: 13540830
Gene end: 13545050
  
Corresponding Affymetrix probe sets: 207031_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000371875
NCBI entrez gene - 579     See in Manteia.
OMIM - 602183
RefSeq - NM_001189
RefSeq Peptide - NP_001180
swissprot - P78367
Ensembl - ENSG00000109705
  
Related genetic diseases (OMIM): 613330 - Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330

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
 nkx3.2ENSDARG00000037639Danio rerio
 NKX3-2ENSGALG00000031859Gallus gallus
 Nkx3-2ENSMUSG00000049691Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HMX3 / A6NHT5 / H6 family homeobox 3ENSG0000018862028
NKX2-3 / Q8TAU0 / NK2 homeobox 3ENSG0000011991926
NKX3-1 / Q99801 / NK3 homeobox 1ENSG0000016703426
NKX2-5 / P52952 / NK2 homeobox 5ENSG0000018307224
NKX2-4 / Q9H2Z4 / NK2 homeobox 4ENSG0000012581624
NKX2-1 / P43699 / NK2 homeobox 1ENSG0000013635224
A6NCS4 / NKX2-6 / NK2 homeobox 6ENSG0000018005324
HMX1 / Q9NP08 / H6 family homeobox 1ENSG0000021561224
NKX2-2 / O95096 / NK2 homeobox 2ENSG0000012582023
HMX2 / A2RU54 / H6 family homeobox 2ENSG0000018881622
NKX2-8 / O15522 / NK2 homeobox 8ENSG0000013632720


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR020479  Homeobox domain, metazoa


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001501 skeletal system development IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0007368 determination of left/right symmetry IEA
 biological_processGO:0031016 pancreas development IEA
 biological_processGO:0032331 negative regulation of chondrocyte differentiation IEA
 biological_processGO:0042474 middle ear morphogenesis IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0048513 animal organ development IEA
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0048645 animal organ formation IEA
 biological_processGO:0048705 skeletal system morphogenesis IEA
 biological_processGO:0048706 embryonic skeletal system development IEA
 biological_processGO:0055123 digestive system development IEA
 biological_processGO:0060576 intestinal epithelial cell development IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
Regulation of RUNX2 expression and activity


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]
Show

 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
Show

 HP:0000316 Hypertelorism 
Show

 HP:0000470 Short neck 
Show

 HP:0000773 Short ribs 
Show

 HP:0000946 Hypoplastic ilia 
Show

 HP:0001371 Contractures 
Show

 HP:0001538 Protuberant abdomen "A thrusting or bulging out of the abdomen." [HPO:curators]
Show

 HP:0002812 Coxa vara 
Show

 HP:0002857 Genu valgum 
Show

 HP:0002970 Genu varum 
Show

 HP:0003025 Irregular metaphyses 
Show

 HP:0003521 Short stature, disproportionate (short trunk) 
Show

 HP:0004288 Pseudoepiphyses of hand bones 
Show

 HP:0008788 Delayed pubic bone ossification 
Show

 HP:0009714 Abnormality of the epididymis "Lesion of the epididymis (the structure that connects efferent ductules to vas deferens)." [HPO:curators]
Show

 HP:0010580 Enlarged epiphyses 
Show

 HP:0100255 Metaphyseal dysplasia "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken]
Show

 HP:0100569 Abnormality of ossification/mineralisation of vertebrae 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr