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

HOXD13 Gene

protein-coding   GIFtS: 58
GCID: GC02P176921

Homeobox D13

(Previous name: homeo box D13)
(Previous symbols: HOX4I, SPD)
Microbiology & Infectious Diseases Congress
  See 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

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

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 talipes equinovarus, and brachydactyly type d. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HOXD13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453 (See protein sequence)
Recommended Name: Homeobox protein Hox-D13  
Size: 343 amino acids; 36101 Da
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35453

  • HOXD13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HOXD13 Protein Expression
    REFSEQ proteins: NP_000514.2  
    ENSEMBL proteins: 
     ENSP00000376322  

    Human Recombinant Protein Products for HOXD13: 
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    Cloud-Clone Corp. Proteins for HOXD13 

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

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

    HOXD13 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HOXL: Homeoboxes / ANTP class : HOXL subclass

    4 InterPro protein domains:
     IPR022067 HoxA13_N
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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


    HOXD13 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    HOXD13 for ontologies           About GeneDecksing


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

    HOXD13 for phenotypes           About GeneDecksing

    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 - Custom generated mouse model solutions for HOXD13 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    SwitchGear 3'UTR luciferase reporter plasmidHOXD13 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXD13


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HOXD13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/10 Interacting proteins for HOXD13 (P354533 ENSP000003763224) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAND2P612963, ENSP000003525654I2D: score=2 STRING: ENSP00000352565
    MEIS1O004703, ENSP000002723694I2D: score=2 STRING: ENSP00000272369
    CREBBPQ927933, ENSP000002623674I2D: score=1 STRING: ENSP00000262367
    SMAD1Q157973, ENSP000003057694I2D: score=2 STRING: ENSP00000305769
    ALX4Q9H1613I2D: score=1 
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

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

    HOXD13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HOXD13 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about HOXD13 / HXD13

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/19 QIAGEN miScript miRNA 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
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HOXD13

    1 DOTS entry:

    DT.40125298 

    11 AceView cDNA sequences:

    NM_000523 AI858239 BE047838 AI863090 CB048000 AI202703 AI971733 BG204577 
    AI971104 AA548783 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™, 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

    HOXD13 expression in normal human tissues (normalized intensities)      HOXD13 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 7 entries
             Prechondrocytic Mesenchymal Cells Autopod
             Autopod
             limb/forelimb   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Limb Bud Mesenchyme Cells Limb Bud
     
     Colon (Gastrointestinal Tract)
             rectum mucosa   
     
     Kidney (Urinary System)
             mK3
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Autopod

    See HOXD13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HOXD13

    SOURCE GeneReport for Unigene cluster: Hs.152414
        SABiosciences Expression via Pathway-Focused PCR Array including HOXD13: 
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
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    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

    This gene was present in the common ancestor of chordates.

    Orthologs for HOXD13 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hoxd131 , 5 homeobox D131, 5 87.22(n)1
    95.28(a)1
      2 (44.13 cM)5
    154331  NM_008275.31  NP_032301.21 
     746683105 
    chicken
    (Gallus gallus)
    Aves HOXD131 homeobox D13 77.63(n)
    87.25(a)
      396415  NM_205434.1  NP_990765.1 
    lizard
    (Anolis carolinensis)
    Reptilia HOXD136
    Uncharacterized protein
    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 


    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
    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

    HOXD13 for paralogs           About GeneDecksing



    (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) 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

    UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453
    Polymorphism: 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


    10/136 SNPs in HOXD13 are shown (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
    ----------
    VAR_0316524
    Syndactyly 5 (SDTY5)4--see VAR_0316522 Q R mis40--------
    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--------
    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) 10/12 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HOXD13
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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]: 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.
    Inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Brachydactyly-syndactyly syndrome (BDSD) [MIM:610713]: Most of affected individuals exhibit 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

  • 20/36 diseases for HOXD13 (see all 36):    About MalaCards
    talipes equinovarus    brachydactyly type d    brachydactyly-syndactyly syndrome    systemic scleroderma
    2q31.1 microdeletion syndrome    syndactyly type 1    brachydactyly type a4    hoxd13-related brachydactyly
    syndactyly type 2    synpolydactyly with foot anomalies    vacterl association    syndactyly type 5
    synpolydactyly, type ii    brachydactyly type e    hand-foot-genital syndrome    triphalangeal thumbs brachyectrodactyly
    syndactyly    brachydactyly    triphalangeal thumb    hypospadias

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

    HOXD13 for disorders           About GeneDecksing

    10/13 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

    PubMed articles for HOXD13 gene, integrated from 9 sources (see all 85):
    (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. (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. (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. (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. (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. (2009)
    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. (2009)
    7. Allelic variants in HOX genes in cryptorchidism. (PubMed id 17216618)1, 4 Wang Y....Manson J. (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. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      (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: 3239 HGNC: 5136 AceView: HOXD13 Ensembl:ENSG00000128714 euGenes: HUgn3239
    ECgene: HOXD13 H-InvDB: HOXD13

    (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 HOXD13 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HOXD13 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HOXD13

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



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    About This Section

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