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Aliases for HOXA11 Gene

Aliases for HOXA11 Gene

  • Homeobox A11 2 3 5
  • Homeobox Protein Hox-1I 3 4
  • HOX1I 3 4
  • Homeobox Protein Hox-A11 3
  • Homeobox Protein HOXA11 3
  • Homeo Box A11 2
  • Homeo Box 1I 3
  • RUSAT1 3
  • HOX1 3

External Ids for HOXA11 Gene

Previous HGNC Symbols for HOXA11 Gene

  • HOX1I
  • HOX1

Previous GeneCards Identifiers for HOXA11 Gene

  • GC07M026864
  • GC07M026929
  • GC07M026963
  • GC07M026994
  • GC07M027187
  • GC07M027220
  • GC07M027182
  • GC07M027183
  • GC07M027190

Summaries for HOXA11 Gene

Entrez Gene Summary for HOXA11 Gene

  • 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]

GeneCards Summary for HOXA11 Gene

HOXA11 (Homeobox A11) is a Protein Coding gene. Diseases associated with HOXA11 include Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 and Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia. Among its related pathways are Transcriptional misregulation in cancer. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXD11.

UniProtKB/Swiss-Prot for HOXA11 Gene

  • 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 Gene

Additional gene information for HOXA11 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXA11 Gene

Genomics for HOXA11 Gene

Regulatory Elements for HOXA11 Gene

Enhancers for HOXA11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H028082 1.3 FANTOM5 Ensembl ENCODE 9.7 -898.5 -898461 2.6 FOXA2 CEBPB REST EP300 RFX5 YY1 JUND ATF3 POLR2A STAT3 JAZF1 JAZF1-AS1 HOXA11 HOXA11-AS HOXA9 HOXA10 HOXA13 ENSG00000253508 HOTTIP EVX1-AS
GH07H027920 1.1 Ensembl ENCODE 10.7 -736.1 -736092 0.6 ZNF76 BMI1 FEZF1 ZNF2 RAD21 RFX5 ZSCAN5C ZNF654 ZNF362 ZEB2 ENSG00000253508 HOTTIP HOXA13 HOXA11 HOXA11-AS HOXA10 HOXA9 ENSG00000253308 EVX1 EVX1-AS
GH07H028018 1.1 Ensembl ENCODE 10.3 -834.5 -834530 2.2 GTF2F1 CTCF RB1 MAX ZNF2 RAD21 RFX5 ZBTB48 SMC3 ZNF143 HOXA13 ENSG00000253508 HOTTIP HOXA11 HOXA10 HOXA11-AS HOXA9 PIR54187 PIR39851
GH07H027210 0.9 VISTA ENCODE 11.7 -25.6 -25616 1.2 CTCF SUZ12 RAD21 YY1 ZFHX2 JUND ZNF143 SMC3 HNF4A EGR2 ENSG00000253308 EVX1 EVX1-AS HOXA11 HOXA11-AS HOXA10 HOXA9 HOXA1 HOTAIRM1 HOXA13
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HOXA11 on UCSC Golden Path with GeneCards custom track

Promoters for HOXA11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209857 723 601 CTCF MXI1 SUZ12 MAX HIC1 ZFHX2 ELK1 POLR2A EGR2 EZH2

Genomic Locations for HOXA11 Gene

Genomic Locations for HOXA11 Gene
4,067 bases
Minus strand

Genomic View for HOXA11 Gene

Genes around HOXA11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXA11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXA11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXA11 Gene

Proteins for HOXA11 Gene

  • Protein details for HOXA11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein Hox-A11
    Protein Accession:
    Secondary Accessions:
    • A4D190

    Protein attributes for HOXA11 Gene

    313 amino acids
    Molecular mass:
    34486 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HOXA11 Gene

Post-translational modifications for HOXA11 Gene

  • Ubiquitination at posLast=7272
  • Modification sites at PhosphoSitePlus

Other Protein References for HOXA11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXA11 Gene

Domains & Families for HOXA11 Gene

Gene Families for HOXA11 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HOXA11 Gene

Suggested Antigen Peptide Sequences for HOXA11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Abd-B homeobox family.
  • Belongs to the Abd-B homeobox family.
genes like me logo Genes that share domains with HOXA11: view

Function for HOXA11 Gene

Molecular function for HOXA11 Gene

GENATLAS Biochemistry:
homeo box A11(1I),homologous to mouse Hox-1.9
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for HOXA11 Gene

Gene Ontology (GO) - Molecular Function for HOXA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HOXA11: view
genes like me logo Genes that share phenotypes with HOXA11: view

Human Phenotype Ontology for HOXA11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HOXA11 Gene

MGI Knock Outs for HOXA11:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HOXA11 Gene

Localization for HOXA11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXA11 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOXA11 gene
Compartment Confidence
nucleus 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HOXA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA,ISS --
GO:0032993 protein-DNA complex ISS,IEA --
GO:0043234 protein complex ISS,IEA --
genes like me logo Genes that share ontologies with HOXA11: view

Pathways & Interactions for HOXA11 Gene

genes like me logo Genes that share pathways with HOXA11: view

Pathways by source for HOXA11 Gene

1 KEGG pathway for HOXA11 Gene

Gene Ontology (GO) - Biological Process for HOXA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development ISS --
GO:0001656 metanephros development IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA,ISS --
GO:0001759 organ induction IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with HOXA11: view

No data available for SIGNOR curated interactions for HOXA11 Gene

Drugs & Compounds for HOXA11 Gene

(2) Drugs for HOXA11 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HOXA11: view

Transcripts for HOXA11 Gene

mRNA/cDNA for HOXA11 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(69) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HOXA11 Gene

Homeobox A11:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HOXA11 Gene

No ASD Table

Relevant External Links for HOXA11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HOXA11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HOXA11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXA11 Gene

This gene is overexpressed in Uterus (x14.2), Cervix - Endocervix (x6.9), Cervix - Ectocervix (x5.3), and Colon - Sigmoid (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of HOXA11 Gene:


SOURCE GeneReport for Unigene cluster for HOXA11 Gene:


Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXA11 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • pelvis
  • arm
  • digit
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • lower limb
  • radius
  • thigh
  • toe
  • ulna
  • upper limb
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with HOXA11: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for HOXA11 Gene

Orthologs for HOXA11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HOXA11 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HOXA11 33 34
  • 95.74 (n)
(Bos Taurus)
Mammalia HOXA11 33 34
  • 94.87 (n)
(Mus musculus)
Mammalia Hoxa11 33 16 34
  • 94.64 (n)
(Rattus norvegicus)
Mammalia LOC100909443 33
  • 94.32 (n)
(Canis familiaris)
Mammalia HOXA11 33 34
  • 91.37 (n)
(Monodelphis domestica)
Mammalia HOXA11 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia HOXA11 34
  • 80 (a)
(Gallus gallus)
Aves HOXA11 33 34
  • 81.42 (n)
(Anolis carolinensis)
Reptilia HOXA11 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxa11 33
  • 76.78 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16037 33
(Danio rerio)
Actinopterygii hoxa11b 33 34
  • 73.95 (n)
hoxa11a 34
  • 67 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7890 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 12 (a)
Species where no ortholog for HOXA11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOXA11 Gene

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

Paralogs for HOXA11 Gene

(9) SIMAP similar genes for HOXA11 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HOXA11: view

Variants for HOXA11 Gene

Sequence variations from dbSNP and Humsavar for HOXA11 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs864321666 Pathogenic 27,182,866(-) TCAGA(-/A)CAGGA reference, frameshift-variant
rs1001749900 -- 27,183,536(+) GCCTG(A/C)GTCCT intron-variant, upstream-variant-2KB
rs1001802119 -- 27,183,165(+) CCCCT(C/G)CCTTT intron-variant
rs1002295658 -- 27,186,580(+) GTTTG(C/T)GCTAA intron-variant, upstream-variant-2KB
rs1002424431 -- 27,186,847(+) ATATG(G/T)AAAAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HOXA11 Gene

Variant ID Type Subtype PubMed ID
dgv1094n67 CNV gain 20364138
nsv5675 CNV insertion 18451855
nsv606465 CNV loss 21841781
nsv606468 CNV loss 21841781
nsv606469 CNV loss 21841781
nsv7393 OTHER inversion 18451855
nsv824042 CNV gain 20364138

Variation tolerance for HOXA11 Gene

Residual Variation Intolerance Score: 63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOXA11 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXA11 Gene

Disorders for HOXA11 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HOXA11 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
radioulnar synostosis with amegakaryocytic thrombocytopenia 1
  • ctrus
radioulnar synostosis with amegakaryocytic thrombocytopenia
  • thrombocytopenia, congenital, with radioulnar synostosis
radioulnar synostosis
  • congenital radioulnar synostosis
- elite association - COSMIC cancer census association via MalaCards


  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1) [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. {ECO:0000269 PubMed:11101832}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HOXA11

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HOXA11: view

No data available for Genatlas for HOXA11 Gene

Publications for HOXA11 Gene

  1. Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations. (PMID: 19255789) Bouba I … Georgiou I (Pediatric nephrology (Berlin, Germany) 2009) 3 22 45 60
  2. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. (PMID: 11101832) Thompson AA … Nguyen LT (Nature genetics 2000) 3 4 22 60
  3. HOXA11 promotes fibroblast proliferation and regulates p53 in uterosacral ligaments. (PMID: 19372592) Connell KA … Taylor HS (Reproductive sciences (Thousand Oaks, Calif.) 2009) 3 22 60
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 45 60
  5. DNA methylation analysis in liquid-based cytology for cervical cancer screening. (PMID: 19609949) Apostolidou S … Widschwendter M (International journal of cancer 2009) 3 22 60

Products for HOXA11 Gene

Sources for HOXA11 Gene

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