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HOXC13 Gene

protein-coding   GIFtS: 55
GCID: GC12P054332

Homeobox C13

(Previous name: homeo box C13)
(Previous symbols: HOX3, HOX3G)
  See HOXC13-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Homeobox C131 2     Homeo Box C131
HOX3G1 2 3 5     NUP98/HOXC132
HOX31 2     Homeo Box 3G2
Homeobox Protein Hox-3G2 3     Homeobox Protein Hox-C132
ECTD92 5     

External Ids:    HGNC: 51251   Entrez Gene: 32292   Ensembl: ENSG000001233647   OMIM: 1429765   UniProtKB: P312763   

Export aliases for HOXC13 gene to outside databases

Previous GC identifers: GC12M054479 GC12P054444 GC12P054049 GC12P052618 GC12P051370


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 skin pilomatrix carcinoma. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HOXA9.

UniProtKB/Swiss-Prot: HXC13_HUMAN, P31276
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the HOXC13 gene promoter:
         Sox5   NRSF form 1   Nkx2-5   NRSF form 2   CREB   AREB6   PPAR-gamma1   deltaCREB   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHOXC13 promoter sequence
   Search Chromatin IP Primers for HOXC13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HOXC13


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.3   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

HOXC13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOXC13 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P054332:  view genomic region     (about GC identifiers)

Start:
54,332,535 bp from pter      End:
54,340,328 bp from pter
Size:
7,794 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HXC13_HUMAN, P31276 (See protein sequence)
Recommended Name: Homeobox protein Hox-C13  
Size: 330 amino acids; 35379 Da
Secondary accessions: Q5BL02 Q96J32 Q9NR24 Q9NYD5

Explore the universe of human proteins at neXtProt for HOXC13: NX_P31276

Explore proteomics data for HOXC13 at MOPED


See HOXC13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_059106.2  
ENSEMBL proteins: 
 ENSP00000243056  

HOXC13 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for HOXC13

 
Search eBioscience for Proteins for HOXC13 

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LSBio Antibodies in human, mouse, rat for HOXC13

HOXC13 Assay Products:

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Cloud-Clone Corp. CLIAs for HOXC13
Search eBioscience for ELISAs for HOXC13 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
HOXL: Homeoboxes / ANTP class : HOXL subclass

4 InterPro protein domains:
 IPR022067 HoxA13_N
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry P31276

ProtoNet protein and cluster: P31276

UniProtKB/Swiss-Prot: HXC13_HUMAN, P31276
Similarity: Belongs to the Abd-B homeobox family
Similarity: Contains 1 homeobox DNA-binding domain


Find genes that share domains with HOXC13           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: HXC13_HUMAN, P31276
Function: Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and
that of other hair-specific genes (By similarity)

     Genatlas biochemistry entry for HOXC13:
homeo box C13(3G)

     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
GO:0003677DNA binding ----
GO:0003682chromatin binding IEA--
GO:0003700sequence-specific DNA binding transcription factor activity ----
GO:0005515protein binding IPI18692240
     
Find genes that share ontologies with HOXC13           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for HOXC13:
 Decreased viability  Decreased viability with pacli 

     9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hoxc13):
 behavior/neurological  craniofacial  digestive/alimentary  growth/size/body  integument 
 limbs/digits/tail  mortality/aging  skeleton  vision/eye 

Find genes that share phenotypes with HOXC13           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Hoxc13tm1Mrc for HOXC13

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HOXC13
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HOXC13

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HOXC13
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HOXC13

miRNA
Products:
    
miRTarBase miRNAs that target HOXC13:
hsa-mir-615-3p (MIRT039788), hsa-mir-31-5p (MIRT004974)

Block miRNA regulation of human, mouse, rat HOXC13 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate HOXC13 (see all 55):
hsa-miR-194* hsa-miR-2052 hsa-miR-607 hsa-miR-19b-2* hsa-miR-15a hsa-miR-200a hsa-miR-29a hsa-miR-507
SwitchGear 3'UTR luciferase reporter plasmidHOXC13 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for HOXC13
Predesigned siRNA for gene silencing in human, mouse, rat HOXC13

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for HOXC13

Clone
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OriGene clones in human, mouse for HOXC13 (see all 7)
OriGene ORF clones in mouse, rat for HOXC13
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: HOXC13 (NM_017410)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXC13
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXC13
Addgene plasmids for HOXC13 

Cell Line
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GenScript Custom overexpressing Cell Line Services for HOXC13
Browse ESI BIO Cell Lines and PureStem Progenitors for HOXC13 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXC13


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HXC13_HUMAN, P31276: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytoskeleton2

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

Find genes that share ontologies with HOXC13           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathway & Disease-focused RT2 Profiler PCR Array including HOXC13: 
          Homeobox (HOX) Genes in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for HOXC13

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

Selected Interacting proteins for HOXC13 (P312761, 3 ENSP000002430564) via UniProtKB, MINT, STRING, and/or I2D (see all 11) (see top 5)
InteractantInteraction Details
GeneCardExternal ID(s)
ELF1P325191, 3, ENSP000002398824EBI-2293590,EBI-765526 I2D: score=2 STRING: ENSP00000239882
MEIS1O004703, ENSP000002723694I2D: score=2 STRING: ENSP00000272369
APEX1P276953, ENSP000002167144I2D: score=1 STRING: ENSP00000216714
RHOXF2Q9BQY43, ENSP000003604414I2D: score=1 STRING: ENSP00000360441
HNRNPABQ997293, ENSP000003511084I2D: score=1 STRING: ENSP00000351108
HOXC9P312743, ENSP000003028364I2D: score=1 STRING: ENSP00000302836
NR2E3Q9Y5X43I2D: score=1 
LINSENSP000003184234STRING: ENSP00000318423
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Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001942hair follicle development IEA--
GO:0006355regulation of transcription, DNA-templated ----
GO:0007275multicellular organismal development ----
GO:0009653anatomical structure morphogenesis TAS10835276
GO:0009952anterior/posterior pattern specification IEA--

Find genes that share ontologies with HOXC13           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HOXC13 (HXC13)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for HOXC13 gene: 
NM_017410.2  

Unigene Cluster for HOXC13:

Homeobox C13
Hs.118608  [show with all ESTs]
Unigene Representative Sequence: NM_017410
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000243056(uc001sei.3)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat HOXC13 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate HOXC13 (see all 55):
hsa-miR-194* hsa-miR-2052 hsa-miR-607 hsa-miR-19b-2* hsa-miR-15a hsa-miR-200a hsa-miR-29a hsa-miR-507
SwitchGear 3'UTR luciferase reporter plasmidHOXC13 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for HOXC13
Predesigned siRNA for gene silencing in human, mouse, rat HOXC13
Clone
Products:
     
OriGene clones in human, mouse for HOXC13 (see all 7)
OriGene ORF clones in mouse, rat for HOXC13
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: HOXC13 (NM_017410)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXC13
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXC13
Addgene plasmids for HOXC13 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for HOXC13
OriGene qSTAR qPCR primer pairs in human, mouse for HOXC13
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HOXC13
  QuantiTect SYBR Green Assays in human, mouse, rat HOXC13
  QuantiFast Probe-based Assays in human, mouse, rat HOXC13

Additional mRNA sequence: 

AF255676.1 AF263466.2 AK024027.1 BC090850.1 BT009908.1 X99679.1 

2 DOTS entries:

DT.440767  DT.95363866 

Selected AceView cDNA sequences (see all 41):

BQ937704 X99679 CR611726 BM795968 NM_017410 BU158600 AL578192 AI583687 
BV178477 AU143101 AF255676 BQ423804 BC002754 BF752820 AI223853 BX389986 
AF263466 BT009908 AA722686 BX094352 AK024027 BX350407 AI917373 CA422844 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HOXC13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTTTAAAAT
HOXC13 Expression
About this image


HOXC13 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Hair (Integumentary System)    fully expand to see all 6 entries
         Fetal Medulla Cells Hair Shaft
 
 Epithelial Cells
         Fetal Medulla Cells Hair Shaft
 
 Heart (Cardiovascular System)
HOXC13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HOXC13 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.118608
    Pathway & Disease-focused RT2 Profiler PCR Array including HOXC13: 
          Homeobox (HOX) Genes in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for HOXC13
OriGene qSTAR qPCR primer pairs in human, mouse for HOXC13
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HOXC13
QuantiTect SYBR Green Assays in human, mouse, rat HOXC13
QuantiFast Probe-based Assays in human, mouse, rat HOXC13
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXC13

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for HOXC13 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Hoxc131 , 5 homeobox C131, 5 91.97(n)1
96.95(a)1
  15 (57.99 cM)5
154221  NM_010464.21  NP_034594.11 
 1029211035 
lizard
(Anolis carolinensis)
Reptilia HOXC136
homeobox C13
80(a)
1 ↔ 1
2(72155534-72161803)
African clawed frog
(Xenopus laevis)
Amphibia Xl.135132 Xenopus laevis transcribed sequence with moderate similarity more 75.86(n)    BJ037972.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.152862 Transcribed sequence with moderate similarity to protein more 75.42(n)    BM186986.1 
fruit fly
(Drosophila melanogaster)
Insecta Abd-B6
Abdominal B
15(a)
1 → many
3R(12752932-12797958)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HOXC13 gene
HOXA92  HOXA132  HOXC92  HOXD112  HOXC122  HOXB132  ENSG000002571842  HOXC112  
HOXD102  HOXA112  HOXD132  HOXB92  HOXC102  HOXD92  HOXD122  HOXA102  
Selected SIMAP similar genes for HOXC13 using alignment to 2 protein entries:     HXC13_HUMAN (see all proteins) (see all similar genes):
NUP98/HOXC13    CDX1    HOXD12    HOXA10    HOXD13    GSX2
MEOX2    HOXA4    HOXA5    HOXB7    HOXB8    HOXC6
HOXA11    HOXB1    HOXD11    HOXB13    HOXD9    MNX1

Find genes that share paralogs with HOXC13           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HOXC13 (see all 201)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs751788861,2
C,F--54164154(+) ACCCAC/ACCACC 1 -- us2k11Minor allele frequency- A:0.07NA 120
rs1492503681,2
--54164239(+) CTCCTC/TGTTTT 1 -- us2k10--------
rs788956041,2
--54164311(+) AGACCC/GTATCT 1 -- us2k10--------
rs1390750781,2
--54164483(+) GATCAC/TGCAGA 1 -- us2k10--------
rs73005101,2
A--54164484(+) ATCACG/TCAGAT 1 -- us2k10--------
rs23661461,2
C,F,A,H--54164565(+) GAGGAA/GGGAGG 1 -- us2k1 tfbs3 trp313Minor allele frequency- G:0.21EA NA WA CSA 1278
rs1859364531,2
--54164670(+) TCTGTC/GCGCTG 1 -- us2k10--------
rs1424960641,2
--54164685(+) CACACA/GAGCAC 1 -- us2k10--------
rs37591621,2
C,F,A,H--54164717(+) AGAGGC/GAGGAA 1 -- us2k1 tfbs3 trp317Minor allele frequency- G:0.21NS EA NA WA CSA 787
rs1908430281,2
--54164763(+) TTTCTC/TTCTTC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for HOXC13 (54332535 - 54340328 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for HOXC13:    About this table    
Variant IDTypeSubtypePubMed ID
nsv826379CNV Gain20364138

Human Gene Mutation Database (HGMD): HOXC13
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing HOXC13
DNA2.0 Custom Variant and Variant Library Synthesis for HOXC13

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 142976   
OMIM disorders: 614931  
UniProtKB/Swiss-Prot: HXC13_HUMAN, P31276
  • 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). Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 3 diseases for HOXC13:    
    About MalaCards
    ectodermal dysplasia 9, hair/nail type    skin pilomatrix carcinoma    ectodermal dysplasia 4, hair/nail type

    2 diseases from the University of Copenhagen DISEASES database for HOXC13:
    Skin pilomatrix carcinoma     Alopecia

    Find genes that share disorders with HOXC13           About GenesLikeMe

    Genetic Association Database (GAD): HOXC13
    Human Genome Epidemiology (HuGE) Navigator: HOXC13 (1 document)

    Export disorders for HOXC13 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HOXC13 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with HOXC13)
        Utopia: connect your pdf to the dynamic
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    1. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. (PubMed id 23063621)1, 2 Lin Z.... Yang Y. (Am. J. Hum. Genet. 2012)
    2. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PubMed id 20935629)1, 4 Heid I.M....Lindgren C.M. (Nat. Genet. 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Selection of homeotic proteins for binding to a human DNA replication origin. (PubMed id 10835276)1, 2 de Stanchina E.... Biamonti G. (J. Mol. Biol. 2000)
    6. Vertebrate homeobox gene nomenclature. (PubMed id 1358459)1, 3 Scott M.P. (Cell 1992)
    7. Nomenclature for human homeobox genes. (PubMed id 1973146)1, 3 McAlpine P.J. and Shows T.B. (Genomics 1990)
    8. The human HOX gene family. (PubMed id 2574852)1, 2 Acampora D.... Boncinelli E. (Nucleic Acids Res. 1989)
    9. Krtap16, characterization of a new hair keratin-associated protein (KAP) gene complex on mouse chromosome 16 and evidence for regulation by Hoxc13. (PubMed id 15385554)1, 9 Pruett N.D....Awgulewitsch A. (J. Biol. Chem. 2004)
    10. Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families. (PubMed id 23461661)1 Ali R.H....Ahmad W. (Br. J. Dermatol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3229 HGNC: 5125 AceView: HOXC13 Ensembl:ENSG00000123364 euGenes: HUgn3229
    ECgene: HOXC13 H-InvDB: HOXC13

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HOXC13 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HOXC13 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HOXC13 gene:
    Search GeneIP for patents involving HOXC13

    GeneCards and IP:
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