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Aliases for HOXC13 Gene

Aliases for HOXC13 Gene

  • Homeobox C13 2 3 5
  • Homeobox Protein Hox-3G 3 4
  • HOX3G 3 4
  • Homeobox Protein Hox-C13 3
  • Homeo Box C13 2
  • Homeo Box 3G 3
  • NUP98/HOXC13 3
  • ECTD9 3
  • HOX3 3

External Ids for HOXC13 Gene

Previous HGNC Symbols for HOXC13 Gene

  • HOX3
  • HOX3G

Previous GeneCards Identifiers for HOXC13 Gene

  • GC12M054479
  • GC12P054444
  • GC12P054049
  • GC12P052618
  • GC12P054332
  • GC12P051370

Summaries for HOXC13 Gene

Entrez Gene Summary for HOXC13 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 may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXC13 Gene

HOXC13 (Homeobox C13) is a Protein Coding gene. Diseases associated with HOXC13 include Ectodermal Dysplasia 9, Hair/Nail Type and Ectodermal Dysplasia 4, Hair/Nail Type. GO annotations related to this gene include sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is HOXA13.

UniProtKB/Swiss-Prot for HOXC13 Gene

  • Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).

Gene Wiki entry for HOXC13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXC13 Gene

Genomics for HOXC13 Gene

Regulatory Elements for HOXC13 Gene

Enhancers for HOXC13 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
GH12G053971 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.6 +51.5 51478 36.8 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 ZNF740 MAP3K12 ENSG00000258344 LOC100652999 HOXC8 HOXC5 SP1 HOTAIR CBX5 HOXC4
GH12G053962 1.4 ENCODE dbSUPER 11.8 +27.9 27914 7.5 CREB3L1 DMAP1 FEZF1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 HOXC8 HOXC9 MAP3K12 HOXC5 HOTAIR HOXC6 HOXC4 SP1 SPRYD3 ENSG00000258086
GH12G054195 1.5 FANTOM5 Ensembl ENCODE 10.5 +257.9 257911 3.1 HDGF PKNOX1 KLF17 ZNF121 GLIS2 ZNF366 SMARCC2 FOS KLF7 KDM4B MAP3K12 HOXC8 HOXC-AS1 HOXC-AS2 HOXC9 HOXC6 MIR196A2 MIR615 HOXC4 HOXC5
GH12G053844 1.1 ENCODE dbSUPER 10.9 -93.0 -92994 2.8 PKNOX1 NFIB RAD21 ZBTB7B RFX5 ZNF121 RCOR1 FOS SMARCC1 CEBPB HOXC13 HOXC13-AS HOXC6 HOXC5 HOXC4 MIR615 LOC100240735 GC12P053855 GC12P053837
GH12G053806 1.1 ENCODE dbSUPER 10.7 -132.0 -131981 0.7 PTBP1 ARNT INSM2 KLF17 FEZF1 FOS KLF7 CREM ZNF263 YY2 HOXC13 HOXC13-AS HOXC6 HOXC9 HOXC-AS1 HOXC-AS2 HOXC8 RN7SKP289 GC12M053768
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HOXC13 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOXC13 Gene

Chromosome:
12
Start:
53,938,765 bp from pter
End:
53,946,544 bp from pter
Size:
7,780 bases
Orientation:
Plus strand

Genomic View for HOXC13 Gene

Genes around HOXC13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXC13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXC13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXC13 Gene

Proteins for HOXC13 Gene

  • Protein details for HOXC13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31276-HXC13_HUMAN
    Recommended name:
    Homeobox protein Hox-C13
    Protein Accession:
    P31276
    Secondary Accessions:
    • Q5BL02
    • Q96J32
    • Q9NR24
    • Q9NYD5

    Protein attributes for HOXC13 Gene

    Size:
    330 amino acids
    Molecular mass:
    35379 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HOXC13 Gene

Post-translational modifications for HOXC13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXC13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXC13 Gene

Domains & Families for HOXC13 Gene

Gene Families for HOXC13 Gene

Protein Domains for HOXC13 Gene

Suggested Antigen Peptide Sequences for HOXC13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P31276

UniProtKB/Swiss-Prot:

HXC13_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 HOXC13: view

Function for HOXC13 Gene

Molecular function for HOXC13 Gene

GENATLAS Biochemistry:
homeo box C13(3G)
UniProtKB/Swiss-Prot Function:
Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).

Gene Ontology (GO) - Molecular Function for HOXC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 18692240
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HOXC13: view
genes like me logo Genes that share phenotypes with HOXC13: view

Human Phenotype Ontology for HOXC13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HOXC13 Gene

MGI Knock Outs for HOXC13:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HOXC13 Gene

Localization for HOXC13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXC13 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 HOXC13 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for HOXC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HOXC13: view

Pathways & Interactions for HOXC13 Gene

SuperPathways for HOXC13 Gene

No Data Available

SIGNOR curated interactions for HOXC13 Gene

Activates:

Gene Ontology (GO) - Biological Process for HOXC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with HOXC13: view

No data available for Pathways by source for HOXC13 Gene

Transcripts for HOXC13 Gene

mRNA/cDNA for HOXC13 Gene

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

Unigene Clusters for HOXC13 Gene

Homeobox C13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HOXC13 Gene

No ASD Table

Relevant External Links for HOXC13 Gene

GeneLoc Exon Structure for
HOXC13
ECgene alternative splicing isoforms for
HOXC13

Expression for HOXC13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HOXC13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXC13 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x25.7) and Skin - Sun Exposed (Lower leg) (x17.1).

Protein differential expression in normal tissues from HIPED for HOXC13 Gene

This gene is overexpressed in Prostate (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HOXC13 Gene



Protein tissue co-expression partners for HOXC13 Gene

NURSA nuclear receptor signaling pathways regulating expression of HOXC13 Gene:

HOXC13

SOURCE GeneReport for Unigene cluster for HOXC13 Gene:

Hs.118608

Evidence on tissue expression from TISSUES for HOXC13 Gene

  • Eye(4.1)
  • Skin(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXC13 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with HOXC13: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for HOXC13 Gene

Orthologs for HOXC13 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXC13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOXC13 34 35
  • 99.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HOXC13 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXC13 34 35
  • 95.06 (n)
cow
(Bos Taurus)
Mammalia HOXC13 34 35
  • 93.84 (n)
rat
(Rattus norvegicus)
Mammalia Hoxc13 34
  • 93.19 (n)
mouse
(Mus musculus)
Mammalia Hoxc13 34 16 35
  • 91.97 (n)
lizard
(Anolis carolinensis)
Reptilia HOXC13 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487255 34
  • 71.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13513 34
zebrafish
(Danio rerio)
Actinopterygii hoxc13a 34 35
  • 70.86 (n)
hoxc13b 35
  • 67 (a)
OneToMany
Dr.15286 34
fruit fly
(Drosophila melanogaster)
Insecta Abd-B 35
  • 15 (a)
OneToMany
Species where no ortholog for HOXC13 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 HOXC13 Gene

ENSEMBL:
Gene Tree for HOXC13 (if available)
TreeFam:
Gene Tree for HOXC13 (if available)

Paralogs for HOXC13 Gene

genes like me logo Genes that share paralogs with HOXC13: view

Variants for HOXC13 Gene

Sequence variations from dbSNP and Humsavar for HOXC13 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs398122377 Pathogenic 53,939,261(+) CCACC(-/C)TGGGC intron-variant, reference, frameshift-variant
rs398122913 Pathogenic 53,939,296(+) TACTA(A/C/T)GGCTG intron-variant, reference, synonymous-codon, stop-gained
rs1000039708 -- 53,939,835(+) CTCTG(C/T)AGCTG intron-variant, upstream-variant-2KB
rs1000091934 -- 53,940,069(+) AAGAA(A/C)CCCCA intron-variant, upstream-variant-2KB
rs1000751974 -- 53,939,655(+) AGGGA(-/C)CCGAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HOXC13 Gene

Variant ID Type Subtype PubMed ID
nsv826379 CNV gain 20364138

Variation tolerance for HOXC13 Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOXC13 Gene

Human Gene Mutation Database (HGMD)
HOXC13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXC13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXC13 Gene

Disorders for HOXC13 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HOXC13 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HXC13_HUMAN
  • Ectodermal dysplasia 9, hair/nail type (ECTD9) [MIM:614931]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia). {ECO:0000269 PubMed:23063621}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HOXC13

Genetic Association Database (GAD)
HOXC13
Human Genome Epidemiology (HuGE) Navigator
HOXC13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOXC13
genes like me logo Genes that share disorders with HOXC13: view

No data available for Genatlas for HOXC13 Gene

Publications for HOXC13 Gene

  1. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. (PMID: 23063621) Lin Z. … Yang Y. (Am. J. Hum. Genet. 2012) 3 4 64
  2. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PMID: 20935629) Heid I.M. … Lindgren C.M. (Nat. Genet. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Krtap16, characterization of a new hair keratin-associated protein (KAP) gene complex on mouse chromosome 16 and evidence for regulation by Hoxc13. (PMID: 15385554) Pruett N.D. … Awgulewitsch A. (J. Biol. Chem. 2004) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for HOXC13 Gene

Sources for HOXC13 Gene

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