Human Gene HOXC13 (ENST00000243056.5) from GENCODE V44
  Description: Homo sapiens homeobox C13 (HOXC13), mRNA. (from RefSeq NM_017410)
RefSeq Summary (NM_017410): 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].
Gencode Transcript: ENST00000243056.5
Gencode Gene: ENSG00000123364.5
Transcript (Including UTRs)
   Position: hg38 chr12:53,938,831-53,946,544 Size: 7,714 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr12:53,938,907-53,945,256 Size: 6,350 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:53,938,831-53,946,544)mRNA (may differ from genome)Protein (330 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HXC13_HUMAN
DESCRIPTION: RecName: Full=Homeobox protein Hox-C13; AltName: Full=Homeobox protein Hox-3G;
FUNCTION: Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).
INTERACTION: P32519:ELF1; NbExp=3; IntAct=EBI-2293590, EBI-765526;
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Belongs to the Abd-B homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HOXC13
Diseases sorted by gene-association score: ectodermal dysplasia 9, hair/nail type* (919), ectodermal dysplasia 4, hair/nail type* (202), skin pilomatrix carcinoma (12), hair follicle neoplasm (11), colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas (7), hypotrichosis (6), hair disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.38 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 12.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.3076-0.320 Picture PostScript Text
3' UTR -401.201288-0.311 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR022067 - HoxA13_N

Pfam Domains:
PF00046 - Homeobox domain
PF12284 - Hox protein A13 N terminal

ModBase Predicted Comparative 3D Structure on P31276
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0001942 hair follicle development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0009653 anatomical structure morphogenesis
GO:0009952 anterior/posterior pattern specification
GO:0035878 nail development
GO:0043587 tongue morphogenesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AF255676 - Homo sapiens homeoprotein C13 (HOXC13) mRNA, complete cds.
BC090850 - Homo sapiens homeobox C13, mRNA (cDNA clone MGC:102689 IMAGE:6171228), complete cds.
AF263466 - Homo sapiens HOXC13 (HOXC13) mRNA, complete cds.
BC002754 - Homo sapiens homeobox C13, mRNA (cDNA clone IMAGE:3629265).
BT009908 - Homo sapiens homeo box C13 mRNA, complete cds.
AK024027 - Homo sapiens cDNA FLJ13965 fis, clone Y79AA1001391, moderately similar to HOMEOBOX PROTEIN HOX-A13.
X99679 - H.sapiens mRNA for HOXC13 protein.
JD115689 - Sequence 96713 from Patent EP1572962.
JD394714 - Sequence 375738 from Patent EP1572962.
JD474317 - Sequence 455341 from Patent EP1572962.
JD383753 - Sequence 364777 from Patent EP1572962.
JD215324 - Sequence 196348 from Patent EP1572962.
JD203897 - Sequence 184921 from Patent EP1572962.
JD227462 - Sequence 208486 from Patent EP1572962.
JD172949 - Sequence 153973 from Patent EP1572962.
JD139992 - Sequence 121016 from Patent EP1572962.
JD094964 - Sequence 75988 from Patent EP1572962.
JD053451 - Sequence 34475 from Patent EP1572962.
JD355550 - Sequence 336574 from Patent EP1572962.
JD563405 - Sequence 544429 from Patent EP1572962.
JD289223 - Sequence 270247 from Patent EP1572962.
JD518892 - Sequence 499916 from Patent EP1572962.
JD215198 - Sequence 196222 from Patent EP1572962.
JD346005 - Sequence 327029 from Patent EP1572962.
JD558028 - Sequence 539052 from Patent EP1572962.
JD344036 - Sequence 325060 from Patent EP1572962.
JD200494 - Sequence 181518 from Patent EP1572962.
JD397706 - Sequence 378730 from Patent EP1572962.
JD423369 - Sequence 404393 from Patent EP1572962.
JD082275 - Sequence 63299 from Patent EP1572962.
JD145841 - Sequence 126865 from Patent EP1572962.
JD101728 - Sequence 82752 from Patent EP1572962.
JD323651 - Sequence 304675 from Patent EP1572962.
JD184371 - Sequence 165395 from Patent EP1572962.
JD100119 - Sequence 81143 from Patent EP1572962.
JD394227 - Sequence 375251 from Patent EP1572962.
JD347689 - Sequence 328713 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000243056.1, ENST00000243056.2, ENST00000243056.3, ENST00000243056.4, HOX3G, HXC13_HUMAN, NM_017410, P31276, Q5BL02, Q96J32, Q9NR24, Q9NYD5, uc001sei.1, uc001sei.2, uc001sei.3, uc001sei.4, uc001sei.5
UCSC ID: ENST00000243056.5
RefSeq Accession: NM_017410
Protein: P31276 (aka HXC13_HUMAN or HXCD_HUMAN)
CCDS: CCDS8865.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.