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

HOXA13 Gene

protein-coding   GIFtS: 55
GCID: GC07M027235

homeobox A13

(Previous name: homeo box A13 )
(Previous symbols: HOX1J, HOX1)
 Explore 28 diseases affiliated with
HOXA13 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HOXA13    

Aliases
for HOXA13 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Homeobox A131 2     Homeo Box 1J2
HOX1J1 2 3 5     Homeobox Protein Hox-A132
HOX11 2     Homeobox Protein HOXA132
Homeo Box A131 2     Transcription Factor HOXA132
Homeobox Protein Hox-1J2 3     

External Ids:    HGNC: 51021   Entrez Gene: 32092   Ensembl: ENSG000001060317   OMIM: 1429595   UniProtKB: P312713   

Export aliases for HOXA13 gene to outside databases

Previous GC identifers: GC07M026880 GC07M026944 GC07M026978 GC07M027009 GC07M027203


Summaries
for HOXA13 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 HOXA13:
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named
A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during
embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription
factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the
encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. (provided by RefSeq,
Jul 2008)

UniProtKB/Swiss-Prot: HXA13_HUMAN, P31271
Function: Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system
that provides cells with specific positional identities on the anterior-posterior axis
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 HOXA13


Genomic Views
for HOXA13 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_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HOXA13 gene promoter:
         E2F-1   p53   AP-1   ATF-2   MyoD   c-Jun   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HOXA13 promoter sequence
   Search SABiosciences Chromatin IP Primers for HOXA13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HOXA13


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

Entrez Gene cytogenetic band: 7p15.2   Ensembl cytogenetic band:  7p15.2   HGNC cytogenetic band: 7p15.2

HOXA13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOXA13 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M027235:  view genomic region     (about GC identifiers)

Start:
 27,233,122 bp from pter      End:
 27,239,725 bp from pter
Size:
 6,604 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 27,287,684-27,290,909     

Proteins
for HOXA13 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: HXA13_HUMAN, P31271 (See protein sequence)
Recommended Name: Homeobox protein Hox-A13  
Size: 388 amino acids; 39727 Da
Subunit: Binds DNA as a homodimer. Interacts with MEIS1, MEIS2 and MEIS3 (By similarity)
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for HOXA13:
2L7Z (3D)    
Secondary accessions: A4D188 O43371

Explore the universe of human proteins at neXtProt for HOXA13: NX_P31271

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P31271

    • HOXA13 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000513.2  
    ENSEMBL proteins: 
     ENSP00000222753  

    Human Recombinant Protein Products: 
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    OriGene Custom Protein Services for HOXA13 
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    Novus Biologicals HOXA13 Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HOXA13

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

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


    HOXA13 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HOXA13

    Protein Domains /
    Families
    for HOXA13 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HOXA13 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 P31271

    ProtoNet protein and cluster: P31271

    UniProtKB/Swiss-Prot: HXA13_HUMAN, P31271
    Similarity: Belongs to the Abd-B homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for HOXA13 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: HXA13_HUMAN, P31271
    Function: Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system
    that provides cells with specific positional identities on the anterior-posterior axis
    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 HOXA13:
    homeo box A13(1J),homologous to mouse Hox-1.10 (hypodactyly),expressed in the developing lower genitourinary tract
    (abnormal seminal vesicle and prostate development),altered in hypodactyly mutants

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HOXA13
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate HOXA13:
    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-1285 hsa-miR-511 hsa-miR-612 hsa-miR-130b* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmid: HOXA13 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HOXA13 (see all 4)
    OriGene shRNA RFP: HOXA13
    OriGene siRNA: HOXA13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HOXA13

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HOXA13

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HOXA13 (see all 2)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXA13 

    Cell Line
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    Search LifeMap BioReagents cell lines for HOXA13

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXA13

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9020844
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
    GO:0044212transcription regulatory region DNA binding IEA--


    HOXA13 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HOXA13:
     Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for HOXA13: Hoxa13tm1Ipc Hoxa13tm2Ipc
         13 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Hoxa13):
     cardiovascular system  digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  integument  limbs/digits/tail  mortality/aging  renal/urinary system 
     reproductive system  skeleton  vision/eye 

    HOXA13 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HOXA13 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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HOXA13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for HOXA13 (P312713 ENSP000002227534) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEIS1O004703, ENSP000002723694I2D: score=2 STRING: ENSP00000272369
    SMAD2Q157963, ENSP000002621604I2D: score=1 STRING: ENSP00000262160
    MEIS2O147703, ENSP000003262964I2D: score=2 STRING: ENSP00000326296
    MEIS3Q996873, ENSP000003335524I2D: score=3 STRING: ENSP00000333552
    SMAD1Q157973, ENSP000003057694I2D: score=1 STRING: ENSP00000305769
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9020844
    GO:0001570vasculogenesis IEA--
    GO:0001886endothelial cell morphogenesis IEA--
    GO:0001894tissue homeostasis IEA--
    GO:0003281ventricular septum development IEA--


    HOXA13 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HOXA13 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

    HOXA13 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HOXA13
    1 Novoseek chemical compound relationship for HOXA13 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alanine 13.7 1 17935235 (1)

    Search CenterWatch for drugs/clinical trials and news about HOXA13 / HXA13 

    Transcripts
    for HOXA13 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 HOXA13 gene: 
    NM_000522.4  

    Unigene Cluster for HOXA13:

    Homeobox A13
    Hs.592172  [show with all ESTs]
    Unigene Representative Sequence: NM_000522
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000518136 ENST00000222753(uc003szb.1)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HOXA13
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate HOXA13:
    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-1285 hsa-miR-511 hsa-miR-612 hsa-miR-130b* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmid: HOXA13 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HOXA13 (see all 4)
    OriGene shRNA RFP: HOXA13
    OriGene siRNA: HOXA13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HOXA13
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HOXA13 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HOXA13
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    GenScript: all cDNA clones in your preferred vector: HOXA13 (NM_000522)
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    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HOXA13
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HOXA13
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HOXA13

    Additional cDNA sequence: 

    BC016712.1 BC075791.1 

    1 DOTS entry:

    DT.443168 

    24/47 AceView cDNA sequences (see all 47):

    NM_000522 BG260781 BX119246 AI695522 BU617759 AI659273 AI080175 BE784076 
    BF589601 BQ024387 BQ022750 BF055200 BQ025175 BF221789 R80259 AI680626 
    CB129050 BG289306 BX439546 AI800530 BF793608 BQ022936 BC075791 AW364757 

    GeneLoc Exon Structure


    Expression
    for HOXA13 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

    HOXA13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTATTGTGT

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

    HOXA13 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
    LymphLymphatic VesselsLymphatic Endothelial CellsEndothelium
    BoneAutopod Long BoneBone
    Lower Urinary TractUreterLower Urinary Tract
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    CD31, CD144 positive cells (Two-step protocol fo...)

    See HOXA13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HOXA13

    SOURCE GeneReport for Unigene cluster: Hs.592172
        SABiosciences Custom PCR Arrays for HOXA13
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    In Situ
    Assay Products:     
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    Orthologs
    for HOXA13 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 HOXA13 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LOC1008590051 homeobox protein Hox-A13-like 82.62(n)
    86.56(a)    		   100859005  XM_003640709.1  XP_003640757.1 
    lizard
    (Anolis carolinensis)    		 Reptilia HOXA136
    		 --
    		 38(a)
    		 1 ↔ 1
    		 GL343275.1(1375087-1379934)
    African clawed frog
    (Xenopus laevis)    		 Amphibia hoxa13-A2 homeo box A13 78.93(n)    AJ314743.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii hoxa13b2 homeo box A13b 73.58(n)   30438  NM_131194.1 
    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 HOXA13 (if available)
    TreeFam Gene Tree for HOXA13 (if available) 

    Paralogs
    for HOXA13 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HOXA13 gene
    HOXA92  HOXC92  HOXD112  HOXC122  ENSG000002571842  HOXB132  HOXD102  HOXC112  
    HOXA112  HOXD132  HOXC132  HOXB92  HOXC102  HOXD92  HOXD122  HOXA102  
    5 SIMAP similar genes for HOXA13 using alignment to 3 protein entries:     HXA13_HUMAN (see all proteins):
    HOXB1    HOXC13    HOXA4    HOXB13    HOXD13

    HOXA13 for paralogs           About GeneDecksing



    Genomic Variants
    for HOXA13 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

    10/119 NCBI SNPs in HOXA13 are shown (see all 119)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1822187831,2
    		--27236000(+) GTGGCG/TCCCTT 1 -- ds50010--------
    rs1488785821,2
    		--27236011(+) GATCTA/GCTAAT 1 -- ds50010--------
    rs1434724931,2
    		--27236026(+) CTAAGA/GCCAAT 1 -- ds50010--------
    rs1480067511,2
    		--27236074(+) TTTTTC/TCGTCA 1 -- ds50010--------
    rs1843486741,2
    		--27236076(+) TTTTCG/TTCAAG 1 -- ds50010--------
    rs1893449881,2
    		--27236102(+) CTTTCA/GTAGTC 1 -- ds50010--------
    rs1153120851,2
    		F,--27236299(+) TTTAAT/ACTCCT 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1142538201,2
    		F,--27236303(+) ATCTCC/TTTGAA 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs602508691,2
    		C--27236558(+) AAGGGT/-TTTTT 1 -- ut311Minor allele frequency- -:0.50NA 2
    rs747166121,2
    		C--27236558(+) AAGGGG/TTTTTT 1 -- ut313Minor allele frequency- T:0.00NA CSA 5

    HapMap Linkage Disequilibrium report for HOXA13 (27233122 - 27239725 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HOXA13: --
    Human Gene Mutation Database (HGMD): HOXA13

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HOXA13
    DNA2.0 Custom Variant and Variant Library Synthesis for HOXA13

    Disorders / Diseases
    for HOXA13 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
    HOXA13 for disorders           About GeneDecksing

    OMIM gene information: 142959   
    OMIM disorders: 140000  176305  
    UniProtKB/Swiss-Prot: HXA13_HUMAN, P31271
  • Defects in HOXA13 are the cause of hand-foot-genital syndrome (HFGS) [MIM:140000]; also known as
    • hand-foot-uterus syndrome. The clinical features include small feet with unusually short great toes and abnormal
    thumbs. Females with the disorder have duplication of the genital tract
  • Defects in HOXA13 are the cause of Guttmacher syndrome (GUTTS) [MIM:176305]. Guttmacher syndrome is a
    • dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common
    with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in
    hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails

    20/28 diseases for HOXA13 (see all 28):    About MalaCards
    hand-foot-genital syndrome    hand-foot-uterus syndrome    triphalangeal thumbs brachyectrodactyly    triphalangeal thumb
    guttmacher syndrome    short stature    hypospadias    esophageal squamous cell carcinoma
    squamous cell carcinoma    labyrinthitis    acute lymphoblastic leukemia    acute myeloid leukemia
    lymphoblastic leukemia    myeloid leukemia    ulcerative colitis    hirschsprung's disease
    brachydactyly    polydactyly    microphthalmia    vaginitis

    2 diseases from the University of Copenhagen DISEASES database for HOXA13:
    Hypospadias     Polydactyly

    3 Novoseek disease relationships for HOXA13 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hand-foot-genital syndrome 97.6 8 9020844 (2), 10839976 (1), 12676922 (1), 15643670 (1) (see all 7)
    hypospadias 63.5 4 14675924 (4)
    cancer 0 1 19491265 (1)

    GeneTests: HOXA13
    Hand-Foot-Genital Syndrome

    Human Genome Epidemiology (HuGE) Navigator: HOXA13 (5 documents)

    Export disorders for HOXA13 gene to outside databases

    Publications
    for HOXA13 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 HOXA13 gene, integrated from 9 sources (see all 71):
    (articles sorted by number of sources associating them with HOXA13)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot- genital syndrome. (PubMed id 10839976)1, 2, 9 Goodman F.R.... Scambler P.J. (2000)
    2. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. (PubMed id 11968094)1, 2, 9 Innis J.W.... Guttmacher A.E. (2002)
    3. Mutation of HOXA13 in hand-foot-genital syndrome. (PubMed id 9020844)1, 2, 9 Mortlock D.P. and Innis J.W. (1997)
    4. Structural basis for sequence specific DNA binding an d protein dimerization of HOXA13. (PubMed id 21829694)1, 2 Zhang Y....Ames J.B. (2011)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    7. A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? (PubMed id 12073020)1, 2 Utsch B....Ludwig M. (2002)
    8. Vertebrate homeobox gene nomenclature. (PubMed id 1358459)1, 3 Scott M.P. (1992)
    9. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (1990)
    10. The human HOX gene family. (PubMed id 2574852)1, 2 Acampora D.... Boncinelli E. (1989)

    External Searches for HOXA13 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing HOXA13 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3209 HGNC: 5102 AceView: HOXA13 Ensembl:ENSG00000106031 euGenes: HUgn3209
    ECgene: HOXA13 H-InvDB: HOXA13

    Other Databases showing HOXA13 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HOXA13 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 HOXA13 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HOXA13 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HOXA13

    Intellectual Property
    for HOXA13 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for HOXA13 gene:
    Search GeneIP for patents involving HOXA13

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