About   Help   FAQ
Hmx1 Gene Detail
Summary
  • Symbol
    Hmx1
  • Name
    H6 homeobox 1
  • Synonyms
    Nkx5-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:107178
    NCBI Gene: 15371
Location & Maps
more
  • Sequence Map
    Chr5:35389108-35399730 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10623 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    HMX1, H6 family homeobox 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    HMX1, H6 family homeobox 1
    Orthology source: HomoloGene
  • Synonyms
    H6, NKX5-3
  • Links
    NCBI Gene ID: 3166
    neXtProt AC: NX_Q9NP08

  • Chr Location
    4p16.1; chr4:8846077-8871817 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Hmx1 mouse models; 1 with human HMX1 associations

Human Disease Mouse Models
       Oculoauricular Syndrome; OCACS   OMIM: 612109 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 3 alleles in 3 genetic backgrounds
    7 images
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Radiation induced
    5
  • Spontaneous
    2
  • Targeted
    2
  • Genomic Mutations
    9 involving Hmx1
Mice homozygous for a spontaneous mutation show perinatal lethality, reduced body mass and low set, laterally-protruding ears. In addition to these phenotypes, mice homozygous for an ENU mutation can display small eyes, mild cranial defects, and perinatal semilethality associated with exencephaly.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037283 VEGA Gene Model | MGI Sequence Detail 10623 C57BL/6J ±  kb
transcript OTTMUST00000096187 VEGA | MGI Sequence Detail 1526 Not Applicable  
polypeptide OTTMUSP00000053711 VEGA | MGI Sequence Detail 332 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    12 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 9
    Genomic 3
    cDNA 4
    Primer pair 1
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-35639
References
more
  • Summaries
    All 46
    Developmental Gene Expression 15
    Diseases 3
    Gene Ontology 7
    Phenotypes 28
  • Earliest
    J:139486 Mentzer RM, et al., The effects of dopamine and isoproterenol on the pulmonary circulation. J Thorac Cardiovasc Surg. 1976 Jun;71(6):807-14
  • Latest
    J:226696 Laumonnerie C, et al., Facial whisker pattern is not sufficient to instruct a whisker-related topographic map in the mouse somatosensory brainstem. Development. 2015 Nov 1;142(21):3704-12

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/19/2016
MGI 6.03
The Jackson Laboratory