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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HMX3 Gene

protein-coding   GIFtS: 39
GCID: GC10P124884

H6 family homeobox 3

(Previous name: homeo box (H6 family) 3 )
 Explore 2 diseases affiliated with
HMX3 via our new
 Human Malady Compendium 
Biological research products
for HMX3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
H6 Family Homeobox 31 2     NKX-5.12 3
Homeo Box (H6 Family) 31 2     NKX5.12 5
NKX5-11 3     Nkx5-12
Homeobox Protein H6 Family Member 32 3     Homeobox (H6 Family) 32
Homeobox Protein Nkx-5.12 3     Homeobox Protein HMX32

External Ids:    HGNC: 50191   Entrez Gene: 3407842   Ensembl: ENSG000001886207   OMIM: 6133805   UniProtKB: A6NHT53   

Export aliases for HMX3 gene to outside databases

Previous GC identifers: GC00U990140 GC10U900563 GC10P118513


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: HMX3_HUMAN, A6NHT5
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMX3 gene promoter:
         p53   NF-kappaB   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HMX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMX3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.13   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q26.13

HMX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMX3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P124884:  view genomic region     (about GC identifiers)

Start:
124,895,478 bp from pter      End:
124,899,995 bp from pter
Size:
4,518 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HMX3_HUMAN, A6NHT5 (See protein sequence)
Recommended Name: Homeobox protein HMX3  
Size: 357 amino acids; 37825 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: A8MU06

Explore the universe of human proteins at neXtProt for HMX3: NX_A6NHT5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A6NHT5

  • HMX3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001099044.1  
    ENSEMBL proteins: 
     ENSP00000350549  

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    Uscn Proteins for HMX3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    HMX3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HMX3 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry A6NHT5

    ProtoNet protein and cluster: A6NHT5

    UniProtKB/Swiss-Prot: HMX3_HUMAN, A6NHT5
    Similarity: Belongs to the HMX homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HMX3_HUMAN, A6NHT5
    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)

    10/249 SABiosciences Target genes for HMX3 (see all 249):
    A1BG ACTRT1 ADAMTS16 AHDC1 ALS2CR12 AMN1 ANKRD13D ANKRD28 ANO2 ARHGEF10

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--


    HMX3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for HMX3: Hmx3/Hmx2Hmx3/tm3Tlu Hmx3tm1Tlu Hmx3tm1Ebo
         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hmx3):
     behavior/neurological  embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear 
     homeostasis/metabolism  mortality/aging  muscle  nervous system  normal 
     reproductive system 

    HMX3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMX3

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for HMX3 (A6NHT53 ENSP000003505494) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAMBPL1Q96FJ03, ENSP000003609924I2D: score=1 STRING: ENSP00000360992
    USP38Q8NB143, ENSP000003034344I2D: score=1 STRING: ENSP00000303434
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007420brain development IEA--
    GO:0007566embryo implantation IEA--
    GO:0030154cell differentiation IEA--
    GO:0042472inner ear morphogenesis IEA--


    HMX3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMX3
    Search CenterWatch for drugs/clinical trials and news about HMX3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HMX3 gene: 
    NM_001105574.1  

    Unigene Cluster for HMX3:

    H6 family homeobox 3
    Hs.531194  [show with all ESTs]
    Unigene Representative Sequence: NM_001105574
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000357878(uc010quc.2)

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    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMX3
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    1 DOTS entry:

    DT.75192883 

    1 AceView cDNA sequence:

    AW088771 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HMX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGCGGCGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HMX3 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.531194
        SABiosciences Custom PCR Arrays for HMX3
    Primer
    Products:
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMX3
    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HMX3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HMX3 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HMX31 H6 family homeobox 3 80.83(n)
    83.01(a)
      429199  NM_001007985.1  NP_001007986.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMX36
    --
    73(a)
    1 ↔ 1
    3(60146678-60156467)
    African clawed frog
    (Xenopus laevis)
    Amphibia nkx-5.1-A2 Nkx-5.1 homeodomain protein 76.84(n)    AF368235.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hmx32 homeo box (H6 family) 3 76.79(n)   60310  AF288211.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta NK7.16
    Hmx6
    H6-like-homeobox
    7(a)
    15(a)
    possible ortholog
    1 ↔ many
    3R(10155862-10198673)
    3R(13384652-13394126)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-96
    mls-26
    Homeobox protein ceh-9
    Mesodermal Lineage Specification family member (ml...
    26(a)
    17(a)
    possible ortholog
    1 ↔ many
    I(565439-566394)
    X(4758774-4761582)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HMX3 gene
    NKX2-32  TLX12  HMX22  NKX3-22  NKX2-82  NKX2-62  NKX2-12  NKX2-52  
    NKX2-22  LBX12  NKX2-42  TLX32  HMX12  LBX22  TLX22  NKX3-12  
    2 SIMAP similar genes for HMX3 using alignment to 1 protein entry:     HMX3_HUMAN:
    HMX1    HMX2

    HMX3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/63 NCBI SNPs in HMX3 are shown (see all 63    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112484081,2
    A,H,--124893611(+) GGTTCG/CCTGCT 1 -- us2k14Minor allele frequency- C:0.00NS EA 416
    rs1434260341,2
    --124893614(+) TCGCTA/GCTGTA 1 -- us2k10--------
    rs1471505991,2
    --124893652(+) TGCCCA/GTCGAG 1 -- us2k10--------
    rs49802661,2
    C,A,--124893692(+) GACCGA/GAAAAC 1 -- us2k17Minor allele frequency- G:0.33NA CSA WA EA 366
    rs1808960541,2
    --124893721(+) GGGGAA/CCCCAC 1 -- us2k10--------
    rs1394606911,2
    --124893830(+) TCGTGC/TGCGGG 1 -- us2k10--------
    rs1855494891,2
    --124893940(+) TTGATA/GCTTAA 1 -- us2k10--------
    rs1498592951,2
    --124893991(+) GAACCA/GGGGAG 1 -- us2k10--------
    rs21183171,2
    C,F,A,--124894100(+) AGCGGA/TTGCCG 1 -- us2k15Minor allele frequency- T:0.20WA CSA EA 244
    rs96515121,2
    C,F,A,--124894117(+) NNNNCG/AGCGGA 1 -- us2k15Minor allele frequency- A:0.18NA EA 246

    HapMap Linkage Disequilibrium report for HMX3 (124895478 - 124899995 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HMX3: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HMX3 for disorders           About GeneDecksing

    OMIM gene information: 613380    OMIM disorders: --

    2 diseases for HMX3:    About MalaCards
    stickler syndrome    neuronitis

    1 disease from the University of Copenhagen DISEASES database for HMX3:
    Stickler syndrome

    Export disorders for HMX3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HMX3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with HMX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    2. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    3. Molecular (SNP) analyses of overlapping hemizygous de letions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as ca ndidate genes in hearing and vestibular function. (PubMed id 19253379)1 Miller N.D....Pevsner J. (2009)
    4. Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial ab normalities and reduced body mass. (PubMed id 19379485)9 Munroe R.J....Schimenti J.C. (2009)
    5. Cloning, characterization, and mapping of the mouse homeobox gene Hmx1. (PubMed id 9628823)9 Yoshiura K....Murray J.C. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 340784 HGNC: 5019 AceView: LOC340784 Ensembl:ENSG00000188620 euGenes: HUgn340784
    ECgene: HMX3 H-InvDB: HMX3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HMX3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HMX3 gene:
    Search GeneIP for patents involving HMX3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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