Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



HOXD13 Gene

protein-coding   GIFtS: 59
GCID: GC02P176921

Homeobox D13

(Previous name: homeo box D13)
(Previous symbols: HOX4I, SPD)
  See HOXD13-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Homeobox D131 2     BDSD2 5
HOX4I1 2 3 5     BDE2
SPD1 2 5     Homeo Box 4I2
Homeo Box D131 2     Homeobox Protein Hox-D132
Homeobox Protein Hox-4I2 3     

External Ids:    HGNC: 51361   Entrez Gene: 32392   Ensembl: ENSG000001287147   OMIM: 1429895   UniProtKB: P354533   

Export aliases for HOXD13 gene to outside databases

Previous GC identifers: GC02P175010 GC02P175618 GC02P177160 GC02P176783 GC02P176665 GC02P168835


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

TryGeneCards Plus

Entrez Gene summary for HOXD13 Gene:
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of
transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals
possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes,
consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a
cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have
been associated with severe limb and genital abnormalities. Mutations in this particular gene cause
synpolydactyly. (provided by RefSeq, Jul 2008)

GeneCards Summary for HOXD13 Gene:
HOXD13 (homeobox D13) is a protein-coding gene. Diseases associated with HOXD13 include synpolydactyly with foot anomalies, and talipes equinovarus. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HOXD11.

UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453
Function: Sequence-specific transcription factor which is part of a developmental regulatory system that provides
cells with specific positional identities on the anterior-posterior axis

Gene Wiki entry for HOXD13 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the HOXD13 gene promoter:
         TBP   PPAR-gamma1   AP-1   ATF-2   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHOXD13 promoter sequence
   Search Chromatin IP Primers for HOXD13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HOXD13


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

HOXD13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOXD13 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P176921:  view genomic region     (about GC identifiers)

Start:
176,957,532 bp from pter      End:
176,960,666 bp from pter
Size:
3,135 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453 (See protein sequence)
Recommended Name: Homeobox protein Hox-D13  
Size: 343 amino acids; 36101 Da
Caution: It is uncertain whether Met-1 or Met-9 is the initiator
Sequence caution: Sequence=AAC51635.1; Type=Erroneous initiation; Sequence=BAA95352.1; Type=Erroneous initiation;

Explore the universe of human proteins at neXtProt for HOXD13: NX_P35453

Explore proteomics data for HOXD13 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys289
  • Modification sites at PhosphoSitePlus

  • See HOXD13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000514.2  
    ENSEMBL proteins: 
     ENSP00000376322  

    HOXD13 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for HOXD13
    OriGene Custom MassSpec
    OriGene Custom Protein Services for HOXD13
    GenScript Custom Purified and Recombinant Proteins Services for HOXD13
    Novus Biologicals HOXD13 Protein
    Novus Biologicals HOXD13 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HOXD13

     
    Search eBioscience for Proteins for HOXD13 

    HOXD13 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HOXD13
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HOXD13
    Novus Biologicals HOXD13 Antibodies
    Search for Antibodies for HOXD13 at Abcam
    Cloud-Clone Corp. Antibodies for HOXD13
    ThermoFisher Antibodies for HOXD13
    LSBio Antibodies in human, mouse, rat for HOXD13

    HOXD13 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HOXD13
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HOXD13
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HOXD13
    Cloud-Clone Corp. CLIAs for HOXD13
    Search eBioscience for ELISAs for HOXD13 


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

    TryGeneCards Plus
    HGNC Gene Families:
    HOXL: Homeoboxes / ANTP class : HOXL subclass

    4 InterPro protein domains:
     IPR022067 HoxA13_N
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P35453

    ProtoNet protein and cluster: P35453

    UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453
    Similarity: Belongs to the Abd-B homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with HOXD13           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HXD13_HUMAN, P35453
    Function: Sequence-specific transcription factor which is part of a developmental regulatory system that provides
    cells with specific positional identities on the anterior-posterior axis

         Genatlas biochemistry entry for HOXD13:
    homeo box D13(4I),homologous to mouse Hox-4.8,involved in patterning and polarization of the mouse autopodium

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8614804
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with HOXD13           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Hoxd13):
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  no phenotypic analysis 
     renal/urinary system  reproductive system  skeleton  vision/eye 

    Find genes that share phenotypes with HOXD13           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for HOXD13: Evx2/Hoxd13Evx2/tm2Ddu Evx2/Hoxd13Evx2/tm3Ddu Hoxd13tm1Ddu Evx2/Hoxd13Evx2/tm3.1Ddu Evx2/Hoxd13Evx2/tm1Ddu Hoxd13tm1Mrc
                                                         Evx2/Hoxd11/Hoxd12/Hoxd13Evx2/Hoxd11/Hoxd12/tm1Ddu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HOXD13
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HOXD13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HOXD13
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HOXD13

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  NCYAATAAAA 

    miRNA
    Products:
        
    miRTarBase miRNAs that target HOXD13:
    hsa-mir-149-5p (MIRT045586), hsa-mir-423-3p (MIRT042641), hsa-mir-16-5p (MIRT051222), hsa-mir-10a-5p (MIRT047651), hsa-mir-1260b (MIRT052694), hsa-mir-103a-3p (MIRT027146)

    Block miRNA regulation of human, mouse, rat HOXD13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HOXD13 (see all 19):
    hsa-miR-892b hsa-miR-193a-3p hsa-miR-4254 hsa-miR-520d-5p hsa-miR-219-5p hsa-miR-4275 hsa-miR-1297 hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidHOXD13 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HOXD13
    Predesigned siRNA for gene silencing in human, mouse, rat HOXD13

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HOXD13

    Clone
    Products:
         
    OriGene clones in human, mouse for HOXD13 (see all 6)
    OriGene ORF clones in mouse, rat for HOXD13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HOXD13 (NM_000523)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXD13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXD13

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HOXD13
    Browse ESI BIO Cell Lines and PureStem Progenitors for HOXD13 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXD13


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    HXD13_HUMAN, P35453: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with HOXD13           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Pathway & Disease-focused RT2 Profiler PCR Array including HOXD13: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HOXD13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for HOXD13 (P354533 ENSP000003763224) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAND2P612963, ENSP000003525654I2D: score=2 STRING: ENSP00000352565
    MEIS1O004703, ENSP000002723694I2D: score=2 STRING: ENSP00000272369
    ALX4Q9H1613, ENSP000003327444I2D: score=1 STRING: ENSP00000332744
    CREBBPQ927933, ENSP000002623674I2D: score=1 STRING: ENSP00000262367
    SOX15O602483, ENSP000003553544I2D: score=1 STRING: ENSP00000355354
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0006355regulation of transcription, DNA-templated TAS9207113
    GO:0006366transcription from RNA polymerase II promoter TAS8614804
    GO:0007275multicellular organismal development TAS9207113
    GO:0007389pattern specification process ----

    Find genes that share ontologies with HOXD13           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HOXD13 (HXD13)

    1 Novoseek inferred chemical compound relationship for HOXD13 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alanine 65.3 21 19546318 (3), 17236141 (3), 8614804 (2), 14669516 (1) (see all 13)



    Find genes that share compounds with HOXD13           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for HOXD13 gene: 
    NM_000523.3  

    Unigene Cluster for HOXD13:

    Homeobox D13
    Hs.152414  [show with all ESTs]
    Unigene Representative Sequence: NM_000523
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000392539(uc002ukf.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HOXD13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HOXD13 (see all 19):
    hsa-miR-892b hsa-miR-193a-3p hsa-miR-4254 hsa-miR-520d-5p hsa-miR-219-5p hsa-miR-4275 hsa-miR-1297 hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidHOXD13 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HOXD13
    Predesigned siRNA for gene silencing in human, mouse, rat HOXD13
    Clone
    Products:
         
    OriGene clones in human, mouse for HOXD13 (see all 6)
    OriGene ORF clones in mouse, rat for HOXD13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HOXD13 (NM_000523)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXD13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXD13
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HOXD13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HOXD13
      QuantiTect SYBR Green Assays in human, mouse, rat HOXD13
      QuantiFast Probe-based Assays in human, mouse, rat HOXD13

    1 DOTS entry:

    DT.40125298 

    11 AceView cDNA sequences:

    AI858239 BE047838 AI863090 NM_000523 AI202703 CB048000 BG204577 AI971733 
    AA548783 AI971104 BG203557 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    HOXD13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAGTGCTT
    HOXD13 Expression
    About this image


    HOXD13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Prechondrocytic Mesenchymal Cells Autopod
             Autopod
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Limb Bud Mesenchyme Cells Limb Bud
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Autopod
     
     Cartilage (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Autopod
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Intermediate Mesoderm
    HOXD13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HOXD13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.152414
        Pathway & Disease-focused RT2 Profiler PCR Array including HOXD13: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HOXD13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HOXD13
    QuantiTect SYBR Green Assays in human, mouse, rat HOXD13
    QuantiFast Probe-based Assays in human, mouse, rat HOXD13
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXD13

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for HOXD13 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hoxd131 , 5 homeobox D131, 5 86.82(n)1
    94.69(a)1
      2 (44.13 cM)5
    154331  NM_008275.31  NP_032301.21 
     746683105 
    chicken
    (Gallus gallus)
    Aves HOXD131 homeobox D13 77.19(n)
    86.52(a)
      396415  NM_205434.1  NP_990765.1 
    lizard
    (Anolis carolinensis)
    Reptilia HOXD136
    homeobox D13
    83(a)
    1 ↔ 1
    GL343356.1(597232-604336)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.218632 Xenopus laevis Hoxd13 mRNA, complete cds 78.16(n)    AY167742.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hoxd13a6
    homeo box D13a
    38(a)
    1 ↔ 1
    9(1977615-1981122) ENSDARG00000059256
    fruit fly
    (Drosophila melanogaster)
    Insecta Abd-B6
    Abdominal B
    15(a)
    1 → many
    3R(12752932-12797958)


    ENSEMBL Gene Tree for HOXD13 (if available)
    TreeFam Gene Tree for HOXD13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for HOXD13 gene
    HOXD112  ENSG000002571842  HOXD102  HOXC132  HOXC102  HOXD122  HOXA92  HOXA132  
    HOXC92  HOXB132  HOXC122  HOXC112  HOXA112  HOXB92  HOXD92  HOXA102  
    5 SIMAP similar genes for HOXD13 using alignment to 1 protein entry:     HXD13_HUMAN:
    HOXC13    HOXB1    HOXB13    HOXA13    HOXD11

    Find genes that share paralogs with HOXD13           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Polymorphic Variants from UniProtKB/Swiss-Prot
    HXD13_HUMAN, P35453: The poly-Ala region is polymorphic (11 to 15 residues) in the normal population and is expanded to
    about 22-29 residues in SPD1 and syndactyly type 5 patients


    Selected SNPs for HOXD13 (see all 136)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289330821,2,,4
    CSynpolydactyly 1 (SPD1)4 pathogenic1176354353(+) ACAAGC/TGGCGG 2 R W mis1 ese30--------
    rs289288921,2,,4
    CBrachydactyly E1 (BDE1)4 pathogenic1176354384(+) CCTATC/GTGAGA 2 S C mis10--------
    rs289288911,2,,4
    CBrachydactyly E1 (BDE1)4 pathogenic1176354401(+) TGACCA/CTTTGG 2 I L mis10--------
    VAR_0316524
    Syndactyly 5 (SDTY5)4--see VAR_0316522 Q R mis40--------
    rs1048936351,2
    Cpathogenic1176354411(+) GTTTCA/GGAACC 2 Q R mis10--------
    rs106497691,2
    C--168836599(+) AAACG-/CAcacac 1 -- int10--------
    rs8472001,2
    C,F,A,H--176350480(-) TCTTTA/GTGAAA 1 -- us2k124Minor allele frequency- G:0.18MN NS EA NA WA 2802
    rs556912051,2
    C,F--176350528(+) GCCTCG/ACCACA 1 -- us2k15Minor allele frequency- A:0.20NA EA 246
    rs8471991,2
    C,A--176350547(-) GCATTT/GTAAAA 1 -- us2k13Minor allele frequency- G:0.03MN WA 304
    rs1447732011,2
    --176350553(+) AATGCG/TGGTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HOXD13 (176957532 - 176960666 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HOXD13 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv520227CNV Loss19592680
    nsv875441CNV Loss21882294
    nsv875442CNV Loss21882294
    dgv4368n71CNV Loss21882294
    nsv524250CNV Loss19592680
    nsv875438CNV Loss21882294
    nsv875446CNV Loss21882294
    nsv875437CNV Loss21882294
    dgv4369n71CNV Loss21882294
    nsv527187CNV Loss19592680

    Human Gene Mutation Database (HGMD): HOXD13
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HOXD13
    DNA2.0 Custom Variant and Variant Library Synthesis for HOXD13

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

    TryGeneCards Plus
    OMIM gene information: 142989   
    OMIM disorders: 186000  113300  113200  186300  610713  192350  
    UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453
  • Synpolydactyly 1 (SPD1) [MIM:186000]: Limb malformation that shows a characteristic manifestation in both
    hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Brachydactyly D (BDD) [MIM:113200]: A form of brachydactyly. Brachydactyly defines a group of inherited
    malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the
    metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big
    toes. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Syndactyly 5 (SDTY5) [MIM:186300]: A form of syndactyly, a congenital anomaly of the hand or foot marked
    by persistence of the webbing between adjacent digits that are more or less completely attached. The
    characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The
    metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly
    usually affects the 3rd and 4th fingers and the 2nd and 3rd toes. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Brachydactyly-syndactyly syndrome (BDSD) [MIM:610713]: A disease characterized by generalized shortening
    of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3.
    The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type
    1. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Brachydactyly E1 (BDE1) [MIM:113300]: A form of brachydactyly. Brachydactyly defines a group of inherited
    malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the
    metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and
    metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same
    family. Some individuals are moderately short of stature. Brachydactyly type E1 is characterized by shortening
    limited to fourth metacarpals and/or metatarsals. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • VACTERL association (VACTERL) [MIM:192350]: VACTERL is an acronym for vertebral anomalies, anal atresia,
    congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for HOXD13 (see all 22):    
    About MalaCards
    synpolydactyly with foot anomalies    talipes equinovarus    hoxd13-related brachydactyly    syndactyly type 5
    vacterl association    brachydactyly type d    zygodactyly type 3    synpolydactyly, type ii
    syndactyly type 2    brachydactyly-syndactyly syndrome    brachydactyly type e    systemic scleroderma
    2q31.1 microdeletion syndrome    hand-foot-genital syndrome    chylomicron retention disease    myocardial infarction susceptibility
    triphalangeal thumb    hypospadias    syndactyly    brachydactyly

    5 diseases from the University of Copenhagen DISEASES database for HOXD13:
    Syndactyly     Polydactyly     Brachydactyly     Clubfoot
    brachydactyly-syndactyly syndrome

    Find genes that share disorders with HOXD13           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HOXD13 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    synpolydactyly 99 29 15952114 (3), 19060004 (2), 17656229 (2), 12900906 (2) (see all 18)
    limb malformation 94.2 13 18399101 (2), 19060004 (2), 12620993 (2), 19006232 (1) (see all 8)
    hand-foot-genital syndrome 93.2 2 15643670 (1), 16457401 (1)
    brachydactyly, type d 92.8 2 12649808 (1), 17236141 (1)
    malformation foot 85.5 3 18399101 (1), 12900906 (1), 9758628 (1)
    syndactyly 81.9 3 12900906 (1), 11850178 (1), 17236141 (1)
    brachydactyly 79.1 4 15643670 (1), 11850178 (1), 12620993 (1), 17236141 (1)
    polydactyly 74.4 2 11850178 (1), 12620993 (1)
    hypospadias 50.8 3 17656229 (2), 9207113 (1)
    hypoplasia 23.9 1 7666393 (1)

    Genetic Association Database (GAD): HOXD13
    Human Genome Epidemiology (HuGE) Navigator: HOXD13 (6 documents)

    Export disorders for HOXD13 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

    TryGeneCards Plus

    PubMed articles for HOXD13 gene, integrated from 10 sources (see all 87):
    (articles sorted by number of sources associating them with HOXD13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. (PubMed id 17236141)1, 2, 9 Zhao X.... Zhang X. (Am. J. Hum. Genet. 2007)
    2. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. (PubMed id 12649808)1, 2, 9 Johnson D.... Wilkie A.O. (Am. J. Hum. Genet. 2003)
    3. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. (PubMed id 8817328)1, 2, 9 Akarsu A.N.... Sarfarazi M. (Hum. Mol. Genet. 1996)
    4. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. (PubMed id 8614804)1, 2, 9 Muragaki Y.... Olsen B.R. (Science 1996)
    5. Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length. (PubMed id 19540081)1, 4 Sugie Y....Osawa J. (amp 2010)
    6. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    7. Allelic variants in HOX genes in cryptorchidism. (PubMed id 17216618)1, 4 Wang Y....Manson J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2007)
    8. [Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus]. (PubMed id 16331564)1, 4 Wang L.L....Sun K.L. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005)
    9. A 72-year-old Danish puzzle resolved -- comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. (PubMed id 16222680)1, 2 Kjaer K.W.... Tommerup N. (Am. J. Med. Genet. A 2005)
    10. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. (PubMed id 12414828)1, 2 Debeer P....Goodman F.R. (J. Med. Genet. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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

    TryGeneCards Plus
    Entrez Gene: 3239 HGNC: 5136 AceView: HOXD13 Ensembl:ENSG00000128714 euGenes: HUgn3239
    ECgene: HOXD13 H-InvDB: HOXD13

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for HOXD13 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HOXD13 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HOXD13[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for HOXD13 gene:
    Search GeneIP for patents involving HOXD13

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of HOXD13
     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for HOXD13  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for HOXD13  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for HOXD13  
     OriGene qSTAR qPCR primer pairs in human, mouse for HOXD13   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for HOXD13   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HOXD13   OriGene Custom Protein Services for HOXD13  

     
     
     Block miRNA regulation of human, mouse, rat HOXD13 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing HOXD13
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HOXD13 Predesigned siRNA for gene silencing in human, mouse, rat HOXD13
     QuantiFast Probe-based Assays in human, mouse, rat HOXD13 QuantiTect SYBR Green Assays in human, mouse, rat HOXD13
     PCR Arrays including human, mouse, rat HOXD13 Search Chromatin IP Primers for HOXD13
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HOXD13  GeneGlobe Interaction Network for HOXD13
     Regulatory tfbs in HOXD13 promoter
     GenScript Custom Purified and Recombinant Proteins Services for HOXD13 GenScript cDNA clones with any tag delivered in your preferred vector for HOXD13
     GenScript Custom Assay Services for HOXD13 GenScript Custom overexpressing Cell Line Services for HOXD13
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for HOXD13 (HXD13)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     HOXD13 antibodies
     HOXD13 proteins
     HOXD13 lysates
     Search for Antibodies for HOXD13 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for HOXD13
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for HOXD13
     Antibodies for HOXD13
     ELISAs for HOXD13
     CLIAs for HOXD13



     Browse ESI BIO Cell Lines and PureStem Progenitors for HOXD13
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXD13
     SwitchGear 3'UTR luciferase reporter plasmids for HOXD13
     SwitchGear Promoter luciferase reporter plasmids for HOXD13
     ThermoFisher Antibodies for HOXD13
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXD13
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HOXD13
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HOXD13
     LSBio Antibodies in human, mouse, rat for HOXD13
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for HOXD13
      Search eBioscience for proteins for HOXD13
      Search eBioscience for elisas for HOXD13
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HOXD13 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4