ENSG00000215612


Homo sapiens

Features
Gene ID: ENSG00000215612
  
Biological name :HMX1
  
Synonyms : H6 family homeobox 1 / HMX1 / Q9NP08
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p16.1
Gene start: 8846076
Gene end: 8871817
  
Corresponding Affymetrix probe sets: 207353_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000383516
Ensembl peptide - ENSP00000446997
NCBI entrez gene - 3166     See in Manteia.
OMIM - 142992
RefSeq - NM_001306142
RefSeq - NM_018942
RefSeq Peptide - NP_001293071
RefSeq Peptide - NP_061815
swissprot - Q9NP08
swissprot - F1T0J4
Ensembl - ENSG00000215612
  
Related genetic diseases (OMIM): 612109 - Oculoauricular syndrome, 612109

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
 hmx1ENSDARG00000095651Danio rerio
 SOHO-1ENSGALG00000015599Gallus gallus
 Hmx1ENSMUSG00000067438Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HMX3 / A6NHT5 / H6 family homeobox 3ENSG0000018862041
HMX2 / A2RU54 / H6 family homeobox 2ENSG0000018881629
NKX3-2 / P78367 / NK3 homeobox 2ENSG0000010970523
A6NCS4 / NKX2-6 / NK2 homeobox 6ENSG0000018005320
NKX2-3 / Q8TAU0 / NK2 homeobox 3ENSG0000011991920
NKX3-1 / Q99801 / NK3 homeobox 1ENSG0000016703419
NKX2-4 / Q9H2Z4 / NK2 homeobox 4ENSG0000012581618
NKX2-5 / P52952 / NK2 homeobox 5ENSG0000018307218
NKX2-8 / O15522 / NK2 homeobox 8ENSG0000013632717
NKX2-1 / P43699 / NK2 homeobox 1ENSG0000013635215
NKX2-2 / O95096 / NK2 homeobox 2ENSG0000012582015


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:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IMP
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


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]
Show

 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
Show

 HP:0000510 Retinitis pigmentosa "Hereditary degeneration and atrophy of the retina." [HPO:curators]
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
Show

 HP:0000589 Coloboma "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson]
Show

 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0000647 Sclerocornea 
Show

 HP:0001104 Macular hypoplasia 
Show

 HP:0007700 Anterior chamber cleavage disorder 
Show

 HP:0007906 Increased intraocular pressure 
Show

 HP:0012376 Microphakia "Abnormal smallness of the `lens` (FMA:58241)." [HPO:probinson]
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