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Aliases for HMX3 Gene

Aliases for HMX3 Gene

  • H6 Family Homeobox 3 2 3
  • Homeobox Protein H6 Family Member 3 3 4
  • Homeobox Protein Nkx-5.1 3 4
  • Homeo Box (H6 Family) 3 2 3
  • NKX-5.1 3 4
  • Nkx5-1 3 4
  • NKX5.1 3 6
  • Homeobox (H6 Family) 3 3
  • Homeobox Protein HMX3 3

External Ids for HMX3 Gene

Summaries for HMX3 Gene

GeneCards Summary for HMX3 Gene

HMX3 (H6 Family Homeobox 3) is a Protein Coding gene. Diseases associated with HMX3 include semicircular canal dehiscence syndrome and stickler syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX2-5.

UniProtKB/Swiss-Prot for HMX3 Gene

  • Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5-CAAGTG-3 core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMX3 Gene

Genomics for HMX3 Gene

Genomic Location for HMX3 Gene

Start:
123,135,962 bp from pter
End:
123,137,741 bp from pter
Size:
1,780 bases
Orientation:
Plus strand

Genomic View for HMX3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HMX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMX3 Gene

Regulatory Elements for HMX3 Gene

Proteins for HMX3 Gene

  • Protein details for HMX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NHT5-HMX3_HUMAN
    Recommended name:
    Homeobox protein HMX3
    Protein Accession:
    A6NHT5
    Secondary Accessions:
    • A8MU06

    Protein attributes for HMX3 Gene

    Size:
    357 amino acids
    Molecular mass:
    37825 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HMX3 Gene

Proteomics data for HMX3 Gene at MOPED

Post-translational modifications for HMX3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HMX3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HMX3 Gene

Domains for HMX3 Gene

Gene Families for HMX3 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

Protein Domains for HMX3 Gene

Suggested Antigen Peptide Sequences for HMX3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NHT5

UniProtKB/Swiss-Prot:

HMX3_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • A6NHT5
Family:
  • Belongs to the HMX homeobox family.:
    • A6NHT5
genes like me logo Genes that share domains with HMX3: view

Function for HMX3 Gene

Molecular function for HMX3 Gene

UniProtKB/Swiss-Prot Function: Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5-CAAGTG-3 core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity).

Gene Ontology (GO) - Molecular Function for HMX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HMX3: view
genes like me logo Genes that share phenotypes with HMX3: view

Animal Models for HMX3 Gene

MGI Knock Outs for HMX3:

Transcription Factor Targeting for HMX3 Gene

Selected GeneGlobe predicted Target genes for HMX3

No data available for Enzyme Numbers (IUBMB) , miRNA and HOMER Transcription for HMX3 Gene

Localization for HMX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMX3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMX3 Gene COMPARTMENTS Subcellular localization image for HMX3 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for HMX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HMX3: view

Pathways for HMX3 Gene

SuperPathways for HMX3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HMX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development IEA --
GO:0007566 embryo implantation IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with HMX3: view

No data available for Pathways by source for HMX3 Gene

Transcripts for HMX3 Gene

mRNA/cDNA for HMX3 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HMX3 Gene

H6 family homeobox 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HMX3 Gene

No ASD Table

Relevant External Links for HMX3 Gene

GeneLoc Exon Structure for
HMX3
ECgene alternative splicing isoforms for
HMX3

Expression for HMX3 Gene

mRNA expression in normal human tissues for HMX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HMX3 Gene

This gene is overexpressed in Brain - Hypothalamus (11.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HMX3 Gene

SOURCE GeneReport for Unigene cluster for HMX3 Gene Hs.531194

genes like me logo Genes that share expressions with HMX3: view

No data available for mRNA Expression by UniProt/SwissProt for HMX3 Gene

Orthologs for HMX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMX3 35
  • 99.16 (n)
  • 99.16 (a)
cow
(Bos Taurus)
Mammalia HMX3 35
  • 91.69 (n)
  • 95.24 (a)
HMX3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMX3 35
  • 93.19 (n)
  • 98.18 (a)
HMX3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmx3 35
  • 90.36 (n)
  • 95.22 (a)
Hmx3 16
Hmx3 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMX3 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmx3 35
  • 90.17 (n)
  • 94.94 (a)
chicken
(Gallus gallus)
Aves HMX3 35
  • 81.66 (n)
  • 82.7 (a)
HMX3 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMX3 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia nkx-5.1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hmx3 35
  • 71.72 (n)
  • 76.55 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2895 35
zebrafish
(Danio rerio)
Actinopterygii hmx3 35
  • 68.81 (n)
  • 74.58 (a)
hmx3 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hmx 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-27 36
  • 22 (a)
ManyToMany
Species with no ortholog for HMX3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HMX3 Gene

ENSEMBL:
Gene Tree for HMX3 (if available)
TreeFam:
Gene Tree for HMX3 (if available)

Paralogs for HMX3 Gene

Selected SIMAP similar genes for HMX3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HMX3: view

Variants for HMX3 Gene

Sequence variations from dbSNP and Humsavar for HMX3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs2118317 -- 123,134,584(+) AGCGG(A/T)TGCCG upstream-variant-2KB
rs2421173 -- 123,136,691(+) GGCCT(A/C)GGGCG intron-variant
rs4980266 -- 123,134,176(+) GACCG(A/G)AAAAC upstream-variant-2KB
rs9651512 -- 123,134,601(+) GCCGC(A/G)GCGGA upstream-variant-2KB
rs10794597 -- 123,138,003(+) AATTT(C/T)CGGGT downstream-variant-500B

Relevant External Links for HMX3 Gene

HapMap Linkage Disequilibrium report
HMX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HMX3 Gene

Disorders for HMX3 Gene

(1) University of Copenhagen DISEASES for HMX3 Gene

genes like me logo Genes that share disorders with HMX3: view

No data available for UniProtKB/Swiss-Prot for HMX3 Gene

Publications for HMX3 Gene

  1. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  2. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. (PMID: 19253379) Miller N.D. … Pevsner J. (Am. J. Med. Genet. A 2009) 3
  3. Defining the human deubiquitinating enzyme interaction landscape. (PMID: 19615732) Sowa M.E. … Harper J.W. (Cell 2009) 3
  4. Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome. (PMID: 22779713) Roknic N. … GA1rtler N. (Acta Otolaryngol. 2012) 3
  5. Genome-wide association study of chronic periodontitis in a general German population. (PMID: 24024966) Teumer A. … Kocher T. (J. Clin. Periodontol. 2013) 3

Products for HMX3 Gene

Sources for HMX3 Gene

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