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

HOXD13 Gene

protein-coding   GIFtS: 53
GCID: GC02P176921

homeobox D13

(Previous name: homeo box D13 )
(Previous symbols: HOX4I, SPD)
 Explore 34 diseases affiliated with
HOXD13 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HOXD13    

Aliases
for HOXD13 gene

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


Summaries
for HOXD13 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 plasmid: HOXD13 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

Proteins
for HOXD13 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35453

    • HOXD13 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000514.2  
    ENSEMBL proteins: 
     ENSP00000376322  

    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for HOXD13

    Protein Domains /
    Families
    for HOXD13 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HOXD13 for domains           About GeneDecksing

    4 InterPro domains/families:
     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


    Function
    for HOXD13 gene

    (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: 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

    miRNA
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    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 plasmid: HOXD13 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HOXD13 (see all 7)
    OriGene shRNA RFP: HOXD13
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


    Animal Models:
         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
         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


    Pathways & Interactions
    for HOXD13 gene

    (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:

        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



    Drugs & Compounds
    for HOXD13 gene

    (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

    HOXD13 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HOXD13
    1 Novoseek 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 

    Transcripts
    for HOXD13 gene

    (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 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
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    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 plasmid: HOXD13 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HOXD13 (see all 7)
    OriGene shRNA RFP: HOXD13
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HOXD13
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HOXD13
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HOXD13

    1 DOTS entry:

    DT.40125298 

    11 AceView cDNA sequences:

    AI863090 AI858239 BE047838 NM_000523 BG204577 CB048000 AI971733 AI202703 
    AI971104 AA548783 BG203557 

    GeneLoc Exon Structure


    Expression
    for HOXD13 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCAGTGCTT

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

    HOXD13 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbAutopodPrechondrocytic Mesenchymal CellsBone, Cartilage
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    LimbLimb BudZone Of Polarizing Activity CellsMesoderm
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    mK3 (Cell line)Kidney

    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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    Orthologs
    for HOXD13 gene

    (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 HOXD13 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 79(a)
    		 1 ↔ 1
    		 GL343356.1(599281-604336)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.218632 Xenopus laevis Hoxd13 mRNA, complete cds 78.16(n)    AY167742.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea nob-16
    		 kNOB-like posterior (NO Backside) family member (n...
    		 15(a)
    		 1 → many
    		 III(12077688-12084220)


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

    Paralogs
    for HOXD13 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HOXD13 gene
    HOXA92  HOXA132  HOXC92  HOXD112  HOXC122  ENSG000002571842  HOXB132  HOXD102  
    HOXC112  HOXA112  HOXC132  HOXB92  HOXC102  HOXD92  HOXD122  HOXA102  
    6 SIMAP similar genes for HOXD13 using alignment to 1 protein entry:     HXD13_HUMAN:
    HOXC13    MEOX1    HOXB1    HOXB13    HOXA13    HOXD11

    HOXD13 for paralogs           About GeneDecksing



    Genomic Variants
    for HOXD13 gene

    (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

    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


    10/100 NCBI SNPs in HOXD13 are shown (see all 100)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289330821,2
    		Cpathogenic168836826(+) ACAAGC/TGGCGG 2 R W mis1 ese31Minor allele frequency- T:0.00NA 2
    rs289288921,2
    		Cpathogenic168836857(+) CCTATC/GTGAGA 2 S C mis11Minor allele frequency- G:0.00NA 2
    rs289288911,2
    		Cpathogenic168836874(+) TGACCA/CTTTGG 2 I L mis11Minor allele frequency- C:0.00NA 2
    rs1048936351,2
    		Cpathogenic168836884(+) GTTTCA/GGAACC 2 Q R mis10--------
    rs8471991,2
    		C,A,--168833097(-) GCATTT/GTAAAA 1 -- us2k13Minor allele frequency- G:0.03MN WA 304
    rs768020481,2
    		--168833660(+) CCCCAT/CTAGTT 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1138264001,2
    		C,--168834183(+) TAGAGG/ACGAAG 1 -- us2k12Minor allele frequency- A:0.04NA 122
    rs1132362381,2
    		C,--168834484(+) GGGCCT/AGTTTT 1 -- us2k12Minor allele frequency- A:0.04NA 122
    rs730299331,2
    		C,F,--168834633(+) GATGGG/ACCGTC 1 -- us2k11Minor allele frequency- A:0.11WA 118
    rs1131439791,2
    		C,--168834715(+) GACCCT/AGCAAG 1 -- us2k13Minor allele frequency- A:0.12NA WA 240

    HapMap Linkage Disequilibrium report for HOXD13 (176957532 - 176960666 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HOXD13: --
    Human Gene Mutation Database (HGMD): HOXD13

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HOXD13
    DNA2.0 Custom Variant and Variant Library Synthesis for HOXD13

    Disorders / Diseases
    for HOXD13 gene

    (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
    HOXD13 for disorders           About GeneDecksing

    OMIM gene information: 142989   
    OMIM disorders: 186000  113300  113200  186300  610713  192350  
    UniProtKB/Swiss-Prot: HXD13_HUMAN, P35453
  • Defects in HOXD13 are the cause of synpolydactyly 1 (SPD1) [MIM:186000]; also known as syndactyly type 2
    • (SDTY2). SPD1 is a limb malformation that shows a characteristic manifestation in both hands and feet. This condition
    is inherited as an autosomal dominant trait with reduced penetrance
  • Defects in HOXD13 are the cause of brachydactyly type D (BDD) [MIM:113200]. BDD is characterized by short and
    • broad terminal phalanges of the thumbs and big toes. Inheritance is autosomal dominant
  • Defects in HOXD13 are the cause of syndactyly type 5 (SDTY5) [MIM:186300]; also known as syndactyly with
    • 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. Inheritance is
    autosomal dominant
  • Defects in HOXD13 are the cause of 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
  • Defects in HOXD13 are the cause of brachydactyly type E (BDE1) [MIM:113300]. BDE is characterized by
    • shortening of the fingers mainly in the metacarpals and metatarsals. Inheritance is autosomal dominant
  • Defects in HOXD13 are a cause of VACTERL association (VACTERL) [MIM:192350]; which includes also VATER
    • association. VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease,
    tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects

    20/34 diseases for HOXD13 (see all 34):    About MalaCards
    synpolydactyly    hand-foot-genital syndrome    triphalangeal thumbs brachyectrodactyly    triphalangeal thumb
    brachydactyly type d    synpolydactyly, type ii    brachydactyly type e    brachydactyly type a4
    brachydactyly    brachydactyly-syndactyly syndrome    tracheoesophageal fistula    syndactyly
    synpolydactyly with foot anomalies    talipes equinovarus    syndactyly type 5    vacterl association
    syndactyly type 2    syndactyly type 1    short stature    hypospadias

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

    10/13 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: HOXD13 (6 documents)

    Export disorders for HOXD13 gene to outside databases

    Publications
    for HOXD13 gene

    (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 84):
    (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. 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)
    6. 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)
    7. EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2. (PubMed id 1675198)1, 2 D'Esposito M....Boncinelli E. (1991)
    8. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (1990)
    9. The human HOX gene family. (PubMed id 2574852)1, 3 Acampora D.... Boncinelli E. (1989)
    10. [Research of HOXD13 and FHL1 in idiopathic congenital talipes equinovarus] (PubMed id 18244901)1, 9 Wang L.L....Sun K.L. (2008)

    External Searches for HOXD13 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing HOXD13 gene

    (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

    Other Databases showing HOXD13 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HOXD13 gene

    (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

    Intellectual Property
    for HOXD13 gene

    (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

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