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, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. Thi... See more...

Aliases for HOXC11 Gene

Aliases for HOXC11 Gene

  • Homeobox C11 2 3 5
  • Homeobox Protein Hox-C11 3 4
  • Homeobox Protein Hox-3H 3 4
  • Homeo Box C11 2 3
  • HOX3H 3 4
  • HOXC11 5

External Ids for HOXC11 Gene

Previous HGNC Symbols for HOXC11 Gene

  • HOX3H

Previous GeneCards Identifiers for HOXC11 Gene

  • GC12M054415
  • GC12P054479
  • GC12P054083
  • GC12P052653
  • GC12P054366
  • GC12P051405

Summaries for HOXC11 Gene

Entrez Gene Summary for HOXC11 Gene

  • This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXC11 Gene

HOXC11 (Homeobox C11) is a Protein Coding gene. Diseases associated with HOXC11 include Vertical Talus, Congenital. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is HOXA11.

UniProtKB/Swiss-Prot Summary for HOXC11 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. Binds to a promoter element of the lactase-phlorizin hydrolase gene.

Gene Wiki entry for HOXC11 Gene

Additional gene information for HOXC11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOXC11 Gene

Genomics for HOXC11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HOXC11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOXC11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOXC11

Top Transcription factor binding sites by QIAGEN in the HOXC11 gene promoter:
  • C/EBPbeta
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Lmo2
  • Max1
  • PPAR-gamma2

Genomic Locations for HOXC11 Gene

Genomic Locations for HOXC11 Gene
chr12:53,973,126-53,977,643
(GRCh38/hg38)
Size:
4,518 bases
Orientation:
Plus strand
chr12:54,366,910-54,371,427
(GRCh37/hg19)
Size:
4,518 bases
Orientation:
Plus strand

Genomic View for HOXC11 Gene

Genes around HOXC11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXC11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXC11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXC11 Gene

Proteins for HOXC11 Gene

  • Protein details for HOXC11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43248-HXC11_HUMAN
    Recommended name:
    Homeobox protein Hox-C11
    Protein Accession:
    O43248
    Secondary Accessions:
    • A8K7D1
    • Q96DH2

    Protein attributes for HOXC11 Gene

    Size:
    304 amino acids
    Molecular mass:
    33748 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HOXC11 Gene

Post-translational modifications for HOXC11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXC11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXC11 Gene

Domains & Families for HOXC11 Gene

Gene Families for HOXC11 Gene

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

Protein Domains for HOXC11 Gene

Suggested Antigen Peptide Sequences for HOXC11 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein Hox-3H (HXC11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43248

UniProtKB/Swiss-Prot:

HXC11_HUMAN :
  • Belongs to the Abd-B homeobox family.
Family:
  • Belongs to the Abd-B homeobox family.
genes like me logo Genes that share domains with HOXC11: view

Function for HOXC11 Gene

Molecular function for HOXC11 Gene

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. Binds to a promoter element of the lactase-phlorizin hydrolase gene.
GENATLAS Biochemistry:
homeo box C11(3H),homologous to mouse Hox-3.7,involved in mouse posterior limb patterning expressed in posterior limb

Phenotypes From GWAS Catalog for HOXC11 Gene

Gene Ontology (GO) - Molecular Function for HOXC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 9582375
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 9582375
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HOXC11: view
genes like me logo Genes that share phenotypes with HOXC11: view

Animal Models for HOXC11 Gene

MGI Knock Outs for HOXC11:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXC11

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXC11 Gene

Localization for HOXC11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXC11 Gene

Subcellular locations from

COMPARTMENTS
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 HOXC11 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HOXC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with HOXC11: view

Pathways & Interactions for HOXC11 Gene

PathCards logo

SuperPathways for HOXC11 Gene

SuperPathway Contained pathways
1 Mesodermal Commitment Pathway
genes like me logo Genes that share pathways with HOXC11: view

Pathways by source for HOXC11 Gene

1 BioSystems pathway for HOXC11 Gene

SIGNOR curated interactions for HOXC11 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for HOXC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001656 metanephros development IEA --
GO:0001759 organ induction IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with HOXC11: view

Drugs & Compounds for HOXC11 Gene

No Compound Related Data Available

Transcripts for HOXC11 Gene

mRNA/cDNA for HOXC11 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXC11

Alternative Splicing Database (ASD) splice patterns (SP) for HOXC11 Gene

No ASD Table

Relevant External Links for HOXC11 Gene

GeneLoc Exon Structure for
HOXC11

Expression for HOXC11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOXC11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXC11 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.8), Artery - Tibial (x9.1), and Skin - Not Sun Exposed (Suprapubic) (x6.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOXC11

SOURCE GeneReport for Unigene cluster for HOXC11 Gene:

Hs.127562

Evidence on tissue expression from TISSUES for HOXC11 Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with HOXC11: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXC11 Gene

Orthologs for HOXC11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HOXC11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HOXC11 30 31
  • 99.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HOXC11 30 31
  • 95.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100911859 30
  • 93.75 (n)
Mouse
(Mus musculus)
Mammalia Hoxc11 30 17 31
  • 93.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HOXC11 30 31
  • 93.64 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HOXC11 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HOXC11 30 31
  • 74.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HOXC11 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487406 30
  • 72.67 (n)
Str.11603 30
Zebrafish
(Danio rerio)
Actinopterygii hoxc11a 30 31
  • 68.22 (n)
OneToMany
hoxc11b 31
  • 65 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 11 (a)
OneToMany
Species where no ortholog for HOXC11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 HOXC11 Gene

ENSEMBL:
Gene Tree for HOXC11 (if available)
TreeFam:
Gene Tree for HOXC11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HOXC11: view image

Paralogs for HOXC11 Gene

(2) SIMAP similar genes for HOXC11 Gene using alignment to 2 proteins:

  • HXC11_HUMAN
  • J3KMZ0_HUMAN
genes like me logo Genes that share paralogs with HOXC11: view

Variants for HOXC11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOXC11 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs12427129 - p.Ala222Val
rs34652380 - p.Pro130Ser

Additional dbSNP identifiers (rs#s) for HOXC11 Gene

Structural Variations from Database of Genomic Variants (DGV) for HOXC11 Gene

Variant ID Type Subtype PubMed ID
esv2759900 CNV gain+loss 17122850
nsv428282 CNV gain 18775914
nsv826379 CNV gain 20364138

Variation tolerance for HOXC11 Gene

Residual Variation Intolerance Score: 64.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.40; 71.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOXC11 Gene

Human Gene Mutation Database (HGMD)
HOXC11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXC11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXC11 Gene

Disorders for HOXC11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HOXC11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
vertical talus, congenital
  • cvt
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with HOXC11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOXC11 Gene

Publications for HOXC11 Gene

  1. The HOXC11 homeodomain protein interacts with the lactase-phlorizin hydrolase promoter and stimulates HNF1alpha-dependent transcription. (PMID: 9582375) Mitchelmore C … Norén O (The Journal of biological chemistry 1998) 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Complete mutation analysis panel of the 39 human HOX genes. (PMID: 11857506) Kosaki K … Matsuo N (Teratology 2002) 3 4
  4. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott MP (Cell 1992) 2 3
  5. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine PJ … Shows TB (Genomics 1990) 2 3

Products for HOXC11 Gene

Sources for HOXC11 Gene