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

HOXA11 Gene

protein-coding   GIFtS: 54
GCID: GC07M027220

homeobox A11

(Previous name: homeo box A11 )
(Previous symbols: HOX1I, HOX1)
 Explore 22 diseases affiliated with
HOXA11 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HOXA11    

Aliases
for HOXA11 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Homeobox A111 2     Homeo Box A111
HOX1I1 2 3 5     Homeo Box 1I2
HOX11 2     Homeobox Protein Hox-A112
Homeobox Protein Hox-1I2 3     Homeobox Protein HOXA112

External Ids:    HGNC: 51011   Entrez Gene: 32072   Ensembl: ENSG000000050737   OMIM: 1429585   UniProtKB: P312703   

Export aliases for HOXA11 gene to outside databases

Previous GC identifers: GC07M026864 GC07M026929 GC07M026963 GC07M026994 GC07M027187


Summaries
for HOXA11 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 HOXA11:
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. This gene is involved in the regulation
of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis
with amegakaryocytic thrombocytopenia. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HXA11_HUMAN, P31270
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 HOXA11


Genomic Views
for HOXA11 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 HOXA11 gene promoter:
         p53   ATF-2   MyoD   c-Jun   YY1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HOXA11 promoter sequence
   Search SABiosciences Chromatin IP Primers for HOXA11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HOXA11


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

HOXA11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOXA11 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M027220:  view genomic region     (about GC identifiers)

Start:
 27,220,776 bp from pter      End:
 27,224,842 bp from pter
Size:
 4,067 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 27,271,961-27,276,020     

Proteins
for HOXA11 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: HXA11_HUMAN, P31270 (See protein sequence)
Recommended Name: Homeobox protein Hox-A11  
Size: 313 amino acids; 34486 Da
Subcellular location: Nucleus
Secondary accessions: A4D190

Explore the universe of human proteins at neXtProt for HOXA11: NX_P31270

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P31270

    • HOXA11 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005514.1  
    ENSEMBL proteins: 
     ENSP00000448962   ENSP00000006015  

    Human Recombinant Protein Products: 
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    Novus Biologicals HOXA11 Proteins
    Novus Biologicals HOXA11 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HOXA11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005667transcription factor complex ISS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0032993protein-DNA complex ISS--
    GO:0043234protein complex ISS--


    HOXA11 for ontologies           About GeneDecksing



    HOXA11 Antibody Products: 
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    Uscn Antibodies for HOXA11
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    Uscn ELISAs and CLIAs for HOXA11

    Protein Domains /
    Families
    for HOXA11 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HOXA11 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR021918 DUF3528
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P31270

    ProtoNet protein and cluster: P31270

    UniProtKB/Swiss-Prot: HXA11_HUMAN, P31270
    Similarity: Belongs to the Abd-B homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for HOXA11 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: HXA11_HUMAN, P31270
    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 HOXA11:
    homeo box A11(1I),homologous to mouse Hox-1.9

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HOXA11
    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate HOXA11 (see all 43):
    hsa-miR-21* hsa-miR-607 hsa-miR-3607-3p hsa-miR-218-1* hsa-miR-200a hsa-miR-30d hsa-miR-4315 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmid: HOXA11 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HOXA11 (see all 4)
    OriGene shRNA RFP: HOXA11
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HOXA11

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HOXA11

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HOXA11 (see all 3)
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXA11 

    Cell Line
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    Search LifeMap BioReagents cell lines for HOXA11

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--


    HOXA11 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for HOXA11: Hoxa11tm1Mrc Hoxa11tm1Ssp Hoxa11tm2(Hoxa13)Ssp
         8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Hoxa11):
     cellular  endocrine/exocrine gland  limbs/digits/tail  mortality/aging  no phenotypic analysis 
     renal/urinary system  reproductive system  skeleton 

    HOXA11 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HOXA11 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 HOXA11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/13 Interacting proteins for HOXA11 (P312703 ENSP000000060154) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEIS1O004703, ENSP000002723694I2D: score=3 STRING: ENSP00000272369
    FOXO1Q127783, ENSP000003688804I2D: score=1 STRING: ENSP00000368880
    GMNNO754963, ENSP000002300564I2D: score=4 STRING: ENSP00000230056
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    HDAC2Q927693, ENSP000003813314I2D: score=1 STRING: ENSP00000381331
    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 ISS--
    GO:0001656metanephros development IEA--
    GO:0001658branching involved in ureteric bud morphogenesis ISS--
    GO:0001759organ induction IEA--
    GO:0006351transcription, DNA-dependent IEA--


    HOXA11 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HOXA11 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

    HOXA11 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HOXA11
    2 Novoseek chemical compound relationships for HOXA11 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    progesterone 42.5 2 20104430 (1), 10084606 (1)
    alanine 0.791 1 11083943 (1)

    Search CenterWatch for drugs/clinical trials and news about HOXA11 / HXA11 

    Transcripts
    for HOXA11 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 HOXA11 gene: 
    NM_005523.5  

    Unigene Cluster for HOXA11:

    Homeobox A11
    Hs.249171  [show with all ESTs]
    Unigene Representative Sequence: NM_005523
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000517402(uc003syy.3) ENST00000006015(uc003syx.3)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HOXA11
    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate HOXA11 (see all 43):
    hsa-miR-21* hsa-miR-607 hsa-miR-3607-3p hsa-miR-218-1* hsa-miR-200a hsa-miR-30d hsa-miR-4315 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmid: HOXA11 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HOXA11 (see all 4)
    OriGene shRNA RFP: HOXA11
    OriGene siRNA: HOXA11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HOXA11
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HOXA11
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    GenScript: all cDNA clones in your preferred vector: HOXA11 (NM_005523)
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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 HOXA11
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HOXA11
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HOXA11

    Additional cDNA sequence: 

    AK313921.1 BC033706.1 BC040948.1 

    4 DOTS entries:

    DT.86821403  DT.101978976  DT.100645680  DT.121079900 

    24/69 AceView cDNA sequences (see all 69):

    BX383838 BE221446 CR611111 AI093274 CA426464 BQ015261 AI061150 CA449862 
    AA653295 BG315256 BM991756 AA029311 BM797328 CB051905 BC040948 N26932 
    CA426472 BX377365 AI627364 BX401341 CR612696 AI597898 BX101301 BX423110 

    GeneLoc Exon Structure


    Expression
    for HOXA11 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

    HOXA11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGATAGCCC

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

    HOXA11 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    LimbZeugopodPrechondrocytic Mesenchymal CellsBone, Cartilage
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    LimbStylopod Synovial JointInterzone CellsCartilage
    PlacentaChorioallantoic PlacentaExtraembryonic AngioblastsEndothelium
    KidneyInterstitial StromaKidney
    LimbStylopod Synovial JointLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    mK3 (Cell line)Kidney
    mK4 (Cell line)Kidney

    See HOXA11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HOXA11

    SOURCE GeneReport for Unigene cluster: Hs.249171
        SABiosciences Expression via Pathway-Focused PCR Array including HOXA11: 
              Stem Cell Transcription Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXA11

    Orthologs
    for HOXA11 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 HOXA11 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LOC1008589671 homeobox protein Hox-A11-like 85.02(n)
    85.47(a)    		   100858967  XM_003640708.1  XP_003640756.1 
    lizard
    (Anolis carolinensis)    		 Reptilia HOXA116
    		 --
    		 66(a)
    		 1 ↔ 1
    		 GL343275.1(1403420-1407205)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.160372 Xenopus laevis transcribed sequence with weak similarity more 80.69(n)    BJ066744.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii hoxa11b2 homeo box A11b 76.03(n)   30382  NM_131147.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Abd-B6
    		 Abdominal B
    		 9(a)
    		 1 → many
    		 3R(12752932-12797958)
    worm
    (Caenorhabditis elegans)    		 Secernentea php-36
    		 Posterior Hox gene Paralog family member (php-3)
    		 18(a)
    		 1 → many
    		 III(12074190-12077456)


    ENSEMBL Gene Tree for HOXA11 (if available)
    TreeFam Gene Tree for HOXA11 (if available) 

    Paralogs
    for HOXA11 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HOXA11 gene
    HOXA92  HOXA132  HOXC92  HOXD112  HOXC122  ENSG000002571842  HOXB132  HOXD102  
    HOXC112  HOXD132  HOXC132  HOXB92  HOXC102  HOXD92  HOXD122  HOXA102  
    9 SIMAP similar genes for HOXA11 using alignment to 2 protein entries:     HXA11_HUMAN (see all proteins):
    HOX B6    HOXA4    HOXC13    HOXD11    HOXA-9    HOXC11
    HOXB1    HOXA10    HOXB9

    HOXA11 for paralogs           About GeneDecksing



    Genomic Variants
    for HOXA11 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

    10/93 NCBI SNPs in HOXA11 are shown (see all 93)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2010812931,2
    		C,--27222406(+) CAGCCA/GCTGGA 1 -- ut310--------
    rs174278611,2
    		C,F,H,--27222409(+) CCGCTG/AGAGTC 1 -- ut31 ese34Minor allele frequency- A:0.02NS EA NA 388
    rs1846054331,2
    		C,--27222410(+) CGCTGA/GAGTCT 1 -- ut310--------
    rs1158087031,2
    		C,F,--27222517(+) TCAGTG/AAGGTT 2 /L syn13Minor allele frequency- A:0.01WA NA EU 5991
    rs1998754191,2
    		--27222616(+) GTATAC/GGGGCA 2 P syn10--------
    rs603682661,2
    		C,--27222688(+) GTGGGG/AGCTGC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1169045201,2
    		F,--27222746(+) TGGTGG/ATCCAG 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1173907261,2
    		--27222879(+) AAGCTG/ACTCCC 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1817171751,2
    		--27223503(+) AAATGA/GCTTCC 2 -- int1 us2k10--------
    rs1404492101,2
    		--27223504(+) AATGGC/TTTCCT 2 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for HOXA11 (27220776 - 27224842 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HOXA11: --
    Human Gene Mutation Database (HGMD): HOXA11

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for HOXA11 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
    HOXA11 for disorders           About GeneDecksing

    OMIM gene information: 142958   
    OMIM disorders: 605432  
    UniProtKB/Swiss-Prot: HXA11_HUMAN, P31270
  • Defects in HOXA11 are the cause of radioulnar synostosis with amegakaryocytic thrombocytopenia (RSAT)
    • [MIM:605432]. The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients
    have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation
    and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding
    problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation

    20/22 diseases for HOXA11 (see all 22):    About MalaCards
    synostosis    thrombocytopenia    thrombocytopenia-absent radius syndrome    radioulnar synostosis with amegakaryocytic thrombocytopenia
    radioulnar synostosis    ectopic pregnancy    cutaneous malignant melanoma    acute lymphoblastic leukemia
    lymphoblastic leukemia    acute myeloid leukemia    myeloid leukemia    clubfoot
    endometrial adenocarcinoma    leukemia    leiomyoma    cervical cancer
    cervicitis    endometriosis    ovarian cancer    infertility

    1 disease from the University of Copenhagen DISEASES database for HOXA11:
    Radioulnar synostosis

    3 Novoseek disease relationships for HOXA11 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    synostosis 51.6 3 16765069 (2), 11101832 (1)
    thrombocytopenia 7.55 2 16765069 (1), 11101832 (1)
    leukemia 6.64 2 16765069 (1), 11841413 (1)

    Human Genome Epidemiology (HuGE) Navigator: HOXA11 (5 documents)

    Export disorders for HOXA11 gene to outside databases

    Publications
    for HOXA11 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 HOXA11 gene, integrated from 9 sources (see all 75):
    (articles sorted by number of sources associating them with HOXA11)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. (PubMed id 11101832)1, 2, 9 Thompson A.A. and Nguyen L.T. (2000)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    5. Evolutionary conservation and tissue-specific processing of hoxa 11 antisense transcripts. (PubMed id 9745033)1, 2 Potter S.S. and Branford W.W. (1998)
    6. Vertebrate homeobox gene nomenclature. (PubMed id 1358459)1, 3 Scott M.P. (1992)
    7. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (1990)
    8. The human HOX gene family. (PubMed id 2574852)1, 2 Acampora D.... Boncinelli E. (1989)
    9. HOXA11 promotes fibroblast proliferation and regulate s p53 in uterosacral ligaments. (PubMed id 19372592)1, 9 Connell K.A....Taylor H.S. (2009)
    10. HOXA11 is critical for development and maintenance of uterosacral ligaments and deficient in pelvic prolapse. (PubMed id 18274672)1, 9 Connell K.A....Taylor H.S. (2008)

    External Searches for HOXA11 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing HOXA11 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3207 HGNC: 5101 AceView: HOXA11 Ensembl:ENSG00000005073 euGenes: HUgn3207
    ECgene: HOXA11 H-InvDB: HOXA11

    Other Databases showing HOXA11 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HOXA11 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 HOXA11 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HOXA11 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for HOXA11 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for HOXA11 gene:
    Search GeneIP for patents involving HOXA11

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