Aliases for HOXC13 Gene
Aliases for HOXC13 Gene
External Ids for HOXC13 Gene
- HGNC: 5125
- Entrez Gene: 3229
- Ensembl: ENSG00000123364
- OMIM: 142976
- UniProtKB: P31276
Previous HGNC Symbols for HOXC13 Gene
- HOX3
- HOX3G
Previous GeneCards Identifiers for HOXC13 Gene
- GC12M054479
- GC12P054444
- GC12P054049
- GC12P052618
- GC12P054332
- GC12P051370
Summaries 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).
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HOXC13 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HOXC13 gene promoter:
Regulatory Element Products
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:
-
- 12q13.13 by Ensembl
- 12q13.13 by Entrez Gene
- 12q13.13 by HGNC
HOXC13 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q5BL02
- Q96J32
- Q9NR24
- Q9NYD5
Protein attributes for HOXC13 Gene
- Size:
- 330 amino acids
- Molecular mass:
- 35379 Da
- Quaternary structure:
- No Data Available
Protein Expression for HOXC13 Gene
Post-translational modifications for HOXC13 Gene
Other Protein References for HOXC13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HOXC13
-
Abcam antibodies for HOXC13
- Invitrogen Antibodies for HOXC13
- GeneTex HOXC13 antibody for HOXC13
-
Santa Cruz Biotechnology (SCBT) Antibodies for HOXC13
Protein Products
-
OriGene Purified Proteins for HOXC13
- Search Origene for MassSpec and Protein Over-expression Lysates for HOXC13
- Origene Custom Protein Services for HOXC13
- Novus Biologicals proteins for HOXC13
- Search GeneTex for Proteins for HOXC13
-
Abcam proteins for HOXC13
Assay Products
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HOXC13 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P31276- Family:
-
- Belongs to the Abd-B homeobox family.
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).
| 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 | -- |
Phenotypes for HOXC13 Gene
- MGI mutant phenotypes for HOXC13:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for HOXC13:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased viability in esophageal squamous lineage
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability with paclitaxel
- Decreased Aire reporter expression
- Decreased viability
Animal Models for HOXC13 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HOXC13 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXC13 gene
- Search ViGene Biosciences for HOXC13
CRISPR Products
-
OriGene CRISPR knockouts for HOXC13
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXC13
- GenScript: Design CRISPR guide RNA sequences for HOXC13
miRNA for HOXC13 Gene
- miRTarBase miRNAs that target HOXC13
miRNA Products
- Search ViGene Biosciences for HOXC13
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HOXC13
- Browse OriGene Inhibitory RNA Products For HOXC13
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXC13 gene
Clone Products
-
OriGene ORF clones in human for HOXC13
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Addgene plasmids for HOXC13
Cell Line Products
-
Horizon Cell Lines for HOXC13
-
ViGene Biosciences adenoviral particle packaged cDNA for HOXC13 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HOXC13 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXC13 gene
Flow Cytometry 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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for HOXC13 Gene
No Data Available
Interacting Proteins for HOXC13 Gene
Selected Interacting proteins:
ENSP00000243056
P31276-HXC13_HUMAN
for HOXC13 Gene via
STRING
IID
UniProtKB
| 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 | -- |
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 :
CRISPR Products
-
OriGene CRISPR knockouts for HOXC13
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXC13
- GenScript: Design CRISPR guide RNA sequences for HOXC13
miRNA Products
- Search ViGene Biosciences for HOXC13
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HOXC13
- Browse OriGene Inhibitory RNA Products For HOXC13
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXC13 gene
Clone Products
-
OriGene ORF clones in human for HOXC13
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HOXC13
Flow Cytometry Products
Expression for HOXC13 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Hair (Integumentary System)
- Fetal Matrix Cells Hair Follicle
- Fetal Companion Cells Companion Layer
- Fetal Hair Shaft Cuticle Cells Hair Shaft
- Fetal Medulla Cells Hair Shaft
- Fetal Cortex Cells Hair Shaft
-
Epithelial Cells
- Fetal Matrix Cells Hair Follicle
- Fetal Hair Shaft Cuticle Cells Hair Shaft
- Fetal Medulla Cells Hair Shaft
- Fetal Cortex Cells Hair Shaft
-
Epiblast (Early Embryonic Tissues)
- Epiblast Cells Epiblast
-
Heart (Cardiovascular System)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of HOXC13 Gene:
HOXC13SOURCE GeneReport for Unigene cluster for HOXC13 Gene:
Hs.118608Evidence 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
Primer Products
-
OriGene qPCR primer pairs for HOXC13
-
OriGene qPCR primer pairs and template standards for HOXC13
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HOXC13 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HOXC13 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HOXC13 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HOXC13 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hoxc13 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hoxc13 34 16 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HOXC13 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100487255 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13513 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hoxc13a 34 35 |
|
||
| hoxc13b 35 |
|
OneToMany | |||
| Dr.15286 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Abd-B 35 |
|
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)
Paralogs for HOXC13 Gene
Paralogs for HOXC13 Gene
(28) SIMAP similar genes for HOXC13 Gene using alignment to 2 proteins:
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXC13 Gene
Disorders for HOXC13 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ectodermal dysplasia 9, hair/nail type |
|
|
| ectodermal dysplasia 4, hair/nail type |
|
|
| skin pilomatrix carcinoma |
|
|
| hair follicle neoplasm |
|
|
| colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |
|
|
Search HOXC13 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for HOXC13 Gene
Publications for HOXC13 Gene
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- 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
- 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
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- OriGene Purified Proteins for HOXC13
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- Novus Biologicals Antibodies for HOXC13
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- Abcam antibodies for HOXC13
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- Santa Cruz Biotechnology (SCBT) Antibodies for HOXC13
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- VectorBuilder custom plasmid, inducible vectors for HOXC13
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HOXC13 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (118) ClinicalTrials
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- (141) ENCODE
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- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer