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 HOXC12 Gene

Aliases for HOXC12 Gene

  • Homeobox C12 2 3 5
  • Homeobox Protein Hox-C12 3 4
  • Homeobox Protein Hox-3F 3 4
  • Homeo Box C12 2 3
  • HOC3F 3 4
  • HOX3F 3 4
  • Homeo Box 3F 3
  • HOXC12 5
  • HOX3 3

External Ids for HOXC12 Gene

Previous HGNC Symbols for HOXC12 Gene

  • HOX3
  • HOX3F
  • HOC3F

Previous GeneCards Identifiers for HOXC12 Gene

  • GC12U990037
  • GC12P054461
  • GC12P054065
  • GC12P052634
  • GC12P054349
  • GC12P051386
  • GC12P054354
  • GC12P054358

Summaries for HOXC12 Gene

Entrez Gene Summary for HOXC12 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXC12 Gene

HOXC12 (Homeobox C12) is a Protein Coding gene. Diseases associated with HOXC12 include Clubfoot and Vertical Talus, Congenital. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXD12.

UniProtKB/Swiss-Prot Summary for HOXC12 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 HOXC12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOXC12 Gene

Genomics for HOXC12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HOXC12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J053954 Promoter 0.8 EPDnew Ensembl 250.7 +0.2 198 0.6 EZH2 USF1 HOXC12 LOC105369775 NONHSAG011263.2 HOXC11
GH12J053971 Promoter/Enhancer 2.7 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.1 +48.4 48409 63 ZSCAN16 TBP ZBTB10 MXD4 BCL11A FEZF1 CEBPA NR2C1 MNT DEK HOTAIR HOXC8 HOXC-AS1 HOXC11 HOXC4 HOXC9 HOXC6 HOXC10 HOXC5 HNRNPA1
GH12J054377 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 6 +424.3 424277 2.4 TBP ZBTB10 MNT DEK IKZF1 ZNF217 BRCA1 CTCF BHLHE40 ELF1 ENSG00000258086 HOXC5 MIR148B RNU6-950P COPZ1 HOXC8 ITGA5 HOXC9 HOXC12 ZNF385A
GH12J054373 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.9 +420.5 420519 4.6 ZIC2 CEBPB REST ZNF341 ZNF316 TCF7L2 PRDM10 MAFK PKNOX1 MAFG MIR148B RNU6-950P COPZ1 ITGA5 ZNF385A HOXC12 HNRNPA1 GPR84 MN309471 lnc-ZNF385A-1
GH12J053781 Enhancer 0.5 Ensembl 10.3 -173.2 -173202 0.2 ZNF366 ZNF629 PRDM10 ZNF335 ZNF10 lnc-HOXC13-5 HOXC-AS3 HOXC10 HOXC6 MIR196A2 HOXC5 HOXC12 HOXC-AS1 HOXC-AS2 HOXC9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOXC12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOXC12

Top Transcription factor binding sites by QIAGEN in the HOXC12 gene promoter:
  • AREB6
  • C/EBPbeta
  • CREB
  • deltaCREB
  • Lmo2
  • NCX
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for HOXC12 Gene

Latest Assembly
chr12:53,954,903-53,958,956
(GRCh38/hg38)
Size:
4,054 bases
Orientation:
Plus strand

Previous Assembly
chr12:54,348,687-54,352,740
(GRCh37/hg19 by Entrez Gene)
Size:
4,054 bases
Orientation:
Plus strand

chr12:54,348,618-54,352,740
(GRCh37/hg19 by Ensembl)
Size:
4,123 bases
Orientation:
Plus strand

Genomic View for HOXC12 Gene

Genes around HOXC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXC12 Gene

Proteins for HOXC12 Gene

  • Protein details for HOXC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31275-HXC12_HUMAN
    Recommended name:
    Homeobox protein Hox-C12
    Protein Accession:
    P31275
    Secondary Accessions:
    • Q9BXJ6

    Protein attributes for HOXC12 Gene

    Size:
    282 amino acids
    Molecular mass:
    30171 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HOXC12 Gene

Post-translational modifications for HOXC12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXC12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for HOXC12
  • Boster Bio Antibodies for HOXC12
  • Santa Cruz Biotechnology (SCBT) Antibodies for HOXC12

No data available for DME Specific Peptides for HOXC12 Gene

Domains & Families for HOXC12 Gene

Gene Families for HOXC12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HOXC12 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
ProtoNet:

Suggested Antigen Peptide Sequences for HOXC12 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein Hox-3F (HXC12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P31275

UniProtKB/Swiss-Prot:

HXC12_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 HOXC12: view

Function for HOXC12 Gene

Molecular function for HOXC12 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.
GENATLAS Biochemistry:
homeo box C12(3F)

Phenotypes From GWAS Catalog for HOXC12 Gene

Gene Ontology (GO) - Molecular Function for HOXC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:1990837 sequence-specific double-stranded DNA binding IBA,IDA 28473536
genes like me logo Genes that share ontologies with HOXC12: view
genes like me logo Genes that share phenotypes with HOXC12: view

Animal Models for HOXC12 Gene

MGI Knock Outs for HOXC12:
  • Hoxc12 Hoxc12<tm1.1(KOMP)Vlcg>

miRNA for HOXC12 Gene

miRTarBase miRNAs that target HOXC12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXC12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXC12 Gene

Localization for HOXC12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXC12 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 HOXC12 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HOXC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HOXC12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HOXC12 Gene

Pathways & Interactions for HOXC12 Gene

PathCards logo

SuperPathways for HOXC12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HOXC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with HOXC12: view

No data available for Pathways by source and SIGNOR curated interactions for HOXC12 Gene

Drugs & Compounds for HOXC12 Gene

No Compound Related Data Available

Transcripts for HOXC12 Gene

mRNA/cDNA for HOXC12 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXC12

Alternative Splicing Database (ASD) splice patterns (SP) for HOXC12 Gene

No ASD Table

Relevant External Links for HOXC12 Gene

GeneLoc Exon Structure for
HOXC12

Expression for HOXC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOXC12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXC12 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x18.2), Artery - Tibial (x10.4), Skin - Not Sun Exposed (Suprapubic) (x9.4), and Adipose - Subcutaneous (x7.4).

Protein differential expression in normal tissues from HIPED for HOXC12 Gene

This gene is overexpressed in Bone (32.2), Spleen (25.0), and Testis (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HOXC12 Gene



Protein tissue co-expression partners for HOXC12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOXC12

SOURCE GeneReport for Unigene cluster for HOXC12 Gene:

Hs.381267
genes like me logo Genes that share expression patterns with HOXC12: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXC12 Gene

Orthologs for HOXC12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HOXC12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HOXC12 30 31
  • 98.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HOXC12 30 31
  • 95.1 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HOXC12 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia HOXC12 30 31
  • 92.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hoxc12 30
  • 90.12 (n)
Mouse
(Mus musculus)
Mammalia Hoxc12 30 17 31
  • 90 (n)
OneToOne
Chicken
(Gallus gallus)
Aves HOXC12 30 31
  • 73.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HOXC12 31
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hoxc12 30
  • 71.28 (n)
African clawed frog
(Xenopus laevis)
Amphibia hoxc12-A 30
Zebrafish
(Danio rerio)
Actinopterygii hoxc12a 30 31
  • 66.79 (n)
OneToMany
hoxc12b 31
  • 53 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
OneToMany
Species where no ortholog for HOXC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 HOXC12 Gene

ENSEMBL:
Gene Tree for HOXC12 (if available)
TreeFam:
Gene Tree for HOXC12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HOXC12: view image

Paralogs for HOXC12 Gene

(1) SIMAP similar genes for HOXC12 Gene using alignment to 1 proteins:

  • HXC12_HUMAN
genes like me logo Genes that share paralogs with HOXC12: view

Variants for HOXC12 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HOXC12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HOXC12 Gene

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

Variation tolerance for HOXC12 Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOXC12 Gene

Human Gene Mutation Database (HGMD)
HOXC12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXC12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOXC12 Gene

Disorders for HOXC12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HOXC12 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
clubfoot
  • congenital clubfoot
vertical talus, congenital
  • cvt
ectodermal dysplasia 4, hair/nail type
  • ectd4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HOXC12

genes like me logo Genes that share disorders with HOXC12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOXC12 Gene

Publications for HOXC12 Gene

  1. Complete mutation analysis panel of the 39 human HOX genes. (PMID: 11857506) Kosaki K … Matsuo N (Teratology 2002) 3 4
  2. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott MP (Cell 1992) 2 3
  3. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine PJ … Shows TB (Genomics 1990) 2 3
  4. The human HOX gene family. (PMID: 2574852) Acampora D … Boncinelli E (Nucleic acids research 1989) 3 4
  5. Impact of cytosine methylation on DNA binding specificities of human transcription factors. (PMID: 28473536) Yin Y … Taipale J (Science (New York, N.Y.) 2017) 3

Products for HOXC12 Gene

Sources for HOXC12 Gene