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Aliases for HMX2 Gene

Aliases for HMX2 Gene

  • H6 Family Homeobox 2 2 3
  • Homeobox Protein H6 Family Member 2 3 4
  • Homeo Box (H6 Family) 2 2 3
  • Homeobox Protein HMX2 3
  • Nkx5-2 3
  • H6L 3

External Ids for HMX2 Gene

Summaries for HMX2 Gene

Entrez Gene Summary for HMX2 Gene

  • The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]

GeneCards Summary for HMX2 Gene

HMX2 (H6 Family Homeobox 2) is a Protein Coding gene. Diseases associated with HMX2 include split hand and split foot. 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 HMX2 Gene

  • Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMX2 Gene

Genomics for HMX2 Gene

Genomic Location for HMX2 Gene

Start:
123,142,421 bp from pter
End:
123,150,672 bp from pter
Size:
8,252 bases
Orientation:
Plus strand

Genomic View for HMX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HMX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMX2 Gene

Regulatory Elements for HMX2 Gene

Proteins for HMX2 Gene

  • Protein details for HMX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2RU54-HMX2_HUMAN
    Recommended name:
    Homeobox protein HMX2
    Protein Accession:
    A2RU54
    Secondary Accessions:
    • B2RNV5

    Protein attributes for HMX2 Gene

    Size:
    273 amino acids
    Molecular mass:
    29598 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HMX2 Gene

Proteomics data for HMX2 Gene at MOPED

Post-translational modifications for HMX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HMX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HMX2 Gene

Domains for HMX2 Gene

Gene Families for HMX2 Gene

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

Protein Domains for HMX2 Gene

UniProtKB/Swiss-Prot:

HMX2_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • A2RU54
Family:
  • Belongs to the HMX homeobox family.:
    • A2RU54
genes like me logo Genes that share domains with HMX2: view

Function for HMX2 Gene

Molecular function for HMX2 Gene

UniProtKB/Swiss-Prot Function: Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.

Gene Ontology (GO) - Molecular Function for HMX2 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 HMX2: view
genes like me logo Genes that share phenotypes with HMX2: view

Animal Models for HMX2 Gene

MGI Knock Outs for HMX2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for HMX2 Gene

Localization for HMX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMX2 Gene COMPARTMENTS Subcellular localization image for HMX2 gene
Compartment Confidence
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HMX2: view

Pathways for HMX2 Gene

SuperPathways for HMX2 Gene

No Data Available

Interacting Proteins for HMX2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000341108%0d%0a9606.ENSP00000360992%0d%0a9606.ENSP00000303434%0d%0a
Selected Interacting proteins: ENSP00000341108 A2RU54-HMX2_HUMAN for HMX2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for HMX2 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:0008284 positive regulation of cell proliferation IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with HMX2: view

No data available for Pathways by source for HMX2 Gene

Transcripts for HMX2 Gene

mRNA/cDNA for HMX2 Gene

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

Unigene Clusters for HMX2 Gene

H6 family homeobox 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HMX2 Gene

No ASD Table

Relevant External Links for HMX2 Gene

GeneLoc Exon Structure for
HMX2
ECgene alternative splicing isoforms for
HMX2

Expression for HMX2 Gene

mRNA expression in normal human tissues for HMX2 Gene

mRNA differential expression in normal tissues according to GTEx for HMX2 Gene

This gene is overexpressed in Kidney - Cortex (15.7) and Brain - Hypothalamus (8.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HMX2 Gene

SOURCE GeneReport for Unigene cluster for HMX2 Gene Hs.444756

genes like me logo Genes that share expressions with HMX2: view

Orthologs for HMX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMX2 36
  • 99.76 (n)
  • 99.63 (a)
cow
(Bos Taurus)
Mammalia HMX2 36
  • 94.26 (n)
  • 94.51 (a)
HMX2 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMX2 36
  • 93.65 (n)
  • 94.87 (a)
HMX2 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmx2 36
  • 89.62 (n)
  • 93.77 (a)
Hmx2 16
Hmx2 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMX2 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmx2 36
  • 89.62 (n)
  • 94.14 (a)
chicken
(Gallus gallus)
Aves HMX2 36
  • 78.23 (n)
  • 75.75 (a)
HMX2 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMX2 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmx2 36
  • 65.2 (n)
  • 66 (a)
zebrafish
(Danio rerio)
Actinopterygii hmx2 36
  • 64.6 (n)
  • 69.38 (a)
hmx2 37
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hmx 37
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mls-2 37
  • 19 (a)
OneToMany
Species with no ortholog for HMX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 HMX2 Gene

ENSEMBL:
Gene Tree for HMX2 (if available)
TreeFam:
Gene Tree for HMX2 (if available)

Paralogs for HMX2 Gene

genes like me logo Genes that share paralogs with HMX2: view

Variants for HMX2 Gene

Sequence variations from dbSNP and Humsavar for HMX2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1058359 -- 123,150,561(+) ATTAC(C/T)AAATT utr-variant-3-prime
rs2278506 -- 123,149,302(+) CCCTC(C/T)AGACC intron-variant
rs2421174 -- 123,149,597(+) CTCGG(G/T)CCCGG reference, missense
rs2421175 -- 123,149,598(+) TCGGG(A/C)CCGGG synonymous-codon, reference
rs2438118 -- 123,141,892(+) AGCAT(A/G)CCCAA upstream-variant-2KB

Relevant External Links for HMX2 Gene

HapMap Linkage Disequilibrium report
HMX2
Human Gene Mutation Database (HGMD)
HMX2

No data available for Structural Variations from Database of Genomic Variants (DGV) for HMX2 Gene

Disorders for HMX2 Gene

(2) MalaCards Diseases for HMX2 Gene

Search for HMX2 Gene in MalaCards »
genes like me logo Genes that share disorders with HMX2: view

No data available for UniProtKB/Swiss-Prot for HMX2 Gene

Publications for HMX2 Gene

  1. Phylogenetic conservation and physical mapping of members of the H6 homeobox gene family. (PMID: 7647458) Stadler H.S. … Solursh M. (Mamm. Genome 1995) 2 3
  2. Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. (PMID: 9004130) Raas-Rothschild A. … Munnich A. (J. Med. Genet. 1996) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep. (PMID: 15558495) de Geus E.J. … Boomsma D.I. (Am. J. Hum. Genet. 2005) 3
  5. 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

Products for HMX2 Gene

Sources for HMX2 Gene

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