ENSMUSG00000050100


Mus musculus

Features
Gene ID: ENSMUSG00000050100
  
Biological name :Hmx2
  
Synonyms : Hmx2 / Homeobox protein HMX2 / P43687
  
Possible biological names infered from orthology : A2RU54 / H6 family homeobox 2
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F3
Gene start: 131548773
Gene end: 131558014
  
Corresponding Affymetrix probe sets: 10558242 (MoGene1.0st)   1425804_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000058205
Ensembl peptide - ENSMUSP00000138799
NCBI entrez gene - 15372     See in Manteia.
MGI - MGI:107159
RefSeq - XM_006507377
RefSeq - NM_145998
RefSeq Peptide - NP_666110
swissprot - P43687
Ensembl - ENSMUSG00000050100
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hmx2ENSDARG00000070954Danio rerio
 HMX2ENSGALG00000030875Gallus gallus
 HMX2ENSG00000188816Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hmx3 / P42581 / Homeobox protein HMX3 / A6NHT5* / H6 family homeobox 3*ENSMUSG0000004014841
Hmx1 / O70218 / Homeobox protein HMX1 / Q9NP08* / H6 family homeobox 1*ENSMUSG0000006743837
Nkx3-2 / P97503 / Homeobox protein Nkx-3.2 / P78367* / NK3 homeobox 2*ENSMUSG0000004969126
Nkx2-3 / P97334 / Homeobox protein Nkx-2.3 / Q8TAU0* / NK2 homeobox 3*ENSMUSG0000004422022
Nkx3-1 / P97436 / NK3 homeobox 1 / Q99801*ENSMUSG0000002206121
Nkx2-5 / P42582 / Homeobox protein Nkx-2.5 / P52952* / NK2 homeobox 5*ENSMUSG0000001557921
Nkx2-6 / P43688 / Homeobox protein Nkx-2.6 / A6NCS4* / NK2 homeobox 6*ENSMUSG0000004418619
Nkx2-2 / P42586 / NK2 homeobox 2 / O95096*ENSMUSG0000002743419
Nkx2-4 / Q9EQM3 / Homeobox protein Nkx-2.4 / Q9H2Z4* / NK2 homeobox 4*ENSMUSG0000005416019
Nkx2-1 / P50220 / Homeobox protein Nkx-2.1 / P43699* / NK2 homeobox 1*ENSMUSG0000000149618
Nkx2-9 / O70584 / Homeobox protein Nkx-2.8 / NKX2-8* / O15522* / NK2 homeobox 8*ENSMUSG0000005866917


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:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007420 brain development IGI
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0042472 inner ear morphogenesis IMP
 biological_processGO:0048026 positive regulation of mRNA splicing, via spliceosome IMP
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

 MP:0000034 abnormal vestibule morphology "malformed cavity between the semicircular canals and the cochlea of the inner ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

 MP:0000035 abnormal membranous labyrinth "malformations in the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23837]
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Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0000036 absent semicircular canals "missing organ of balance; consists of three bony tubes within which the semicircular ducts are located" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:23837]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0000041 absent endolymphatic duct "missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
Show

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0000743 muscle spasms "muscular twitching, cramps and seizures ; frequently associated with calcium deficiency, hypoparathyroidism, vitamin D deficiency or alkalosis " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0001752 abnormal hypothalamus secretion "altered ability of the hypothalamus to release its contents" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0002428 abnormal semicircular canal "anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0002859 abnormal canal fusion "malformed or mistimed fusion of the canal primordia during development" [J:75619]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
Show

Allelic Composition: Grin2btm1e.1(KOMP)Wtsi/Grin2b+
Genetic Background: C57BL/6N-Grin2btm1e.1(KOMP)Wtsi/Tcp

 MP:0003069 abnormal superior semicircular canal "anomaly of the upper, superior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0003162 reduced size of lateral semicircular canal 
Show

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0003163 absent posterior semicircular canal 
Show

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0003938 abnormal ear development "developmental anomaly of any of the structures involved in the ear or vestibular system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

 MP:0004249 abnormal crista ampullaris morphology "anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass" [J:60193, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0004328 decreased vestibular hair cell number "decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0004329 saccular degeneration "degeneration or loss of the smaller of the two sacs in the vestibule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0004332 utricular degeneration "degeneration or loss of the larger of the two sacs in the vestibule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0004333 abnormal utricular macula morphology "any structural abnormalities in the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0005120 decreased circulating growth hormone level "less than the expected blood concentration of the hormone that promotes body growth, fat mobilization, and inhibition of glucose utilization" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0005191 head tilt "condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Alx3tm1Hubr/Alx3tm1Hubr,Alx4lst-J/Alx4lst-J
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6J * FVB/N

Allelic Composition: Hmx2tm2Tlu/Hmx2tm2Tlu,Hmx3tm4(Hmx)Tlu/Hmx3tm4(Hmx)Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0005361 small pituitary gland "reduced size of the pituitary gland, the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0006011 abnormal endolymphatic duct morphology "any structural alteration in the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac." [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0008321 small adenohypophysis "reduced size of the anterior part of the pituitary that secretes a variety of hormones" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

 MP:0008528 polycystic kidney "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Grin2btm1e.1(KOMP)Wtsi/Grin2b+
Genetic Background: C57BL/6N-Grin2btm1e.1(KOMP)Wtsi/Tcp

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Hmx3/Hmx2tm3Tlu/Hmx3/Hmx2tm3Tlu
Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

  


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






 

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