Details for: HOXC13

Gene ID: 3229

Symbol: HOXC13

Ensembl ID: ENSG00000123364

Description: homeobox C13

Associated with

  • Anatomical structure morphogenesis
    (GO:0009653)
  • Anterior/posterior pattern specification
    (GO:0009952)
  • Chromatin
    (GO:0000785)
  • Chromatin binding
    (GO:0003682)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-binding transcription factor binding
    (GO:0140297)
  • Hair follicle development
    (GO:0001942)
  • Nail development
    (GO:0035878)
  • Nucleus
    (GO:0005634)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Tongue morphogenesis
    (GO:0043587)
  • Transcription cis-regulatory region binding
    (GO:0000976)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 5.38
    Marker Score: 2978
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 4.25
    Marker Score: 5258
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 3.45
    Marker Score: 4764
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 2.44
    Marker Score: 1387
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.27
    Marker Score: 2288
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 2.26
    Marker Score: 4116
  • Cell Name: T cell (CL0000084)
    Fold Change: 2.23
    Marker Score: 3851
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.98
    Marker Score: 2214
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.34
    Marker Score: 561
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.3
    Marker Score: 682
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.25
    Marker Score: 1189.5
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.19
    Marker Score: 694
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7692
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71757
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47987
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5347
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5277
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.86
    Marker Score: 501
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 403
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.75
    Marker Score: 1198
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.69
    Marker Score: 1316
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.69
    Marker Score: 666.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.67
    Marker Score: 537
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.65
    Marker Score: 429
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.61
    Marker Score: 712
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.56
    Marker Score: 591
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.49
    Marker Score: 989
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.48
    Marker Score: 284
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.45
    Marker Score: 936
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.43
    Marker Score: 385
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.42
    Marker Score: 671
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4
    Marker Score: 6289
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.35
    Marker Score: 186.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.34
    Marker Score: 207
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.34
    Marker Score: 84
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.34
    Marker Score: 2020
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.31
    Marker Score: 88.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.3
    Marker Score: 232
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.28
    Marker Score: 232
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.27
    Marker Score: 71
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.26
    Marker Score: 124
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.26
    Marker Score: 171
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.25
    Marker Score: 79
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.25
    Marker Score: 85
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.24
    Marker Score: 85
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.24
    Marker Score: 423
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.24
    Marker Score: 76
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.21
    Marker Score: 68
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.21
    Marker Score: 95
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.21
    Marker Score: 77
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.2
    Marker Score: 88
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.2
    Marker Score: 1291
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.19
    Marker Score: 87
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.19
    Marker Score: 502
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.19
    Marker Score: 189
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.19
    Marker Score: 338
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.18
    Marker Score: 66.5
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.18
    Marker Score: 51
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.15
    Marker Score: 70
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.13
    Marker Score: 91
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.13
    Marker Score: 69
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.13
    Marker Score: 86
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.12
    Marker Score: 276
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.1
    Marker Score: 349
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.09
    Marker Score: 98.5
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.09
    Marker Score: 78
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.09
    Marker Score: 69
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.08
    Marker Score: 52
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.08
    Marker Score: 91
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.08
    Marker Score: 87
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.08
    Marker Score: 87
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.07
    Marker Score: 63
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.07
    Marker Score: 87
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.07
    Marker Score: 889
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.06
    Marker Score: 83
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.06
    Marker Score: 193
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.06
    Marker Score: 78
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.06
    Marker Score: 106
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.06
    Marker Score: 87
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.06
    Marker Score: 83
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.05
    Marker Score: 66
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.04
    Marker Score: 178
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.04
    Marker Score: 88
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.04
    Marker Score: 59
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.04
    Marker Score: 400
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.04
    Marker Score: 55
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.04
    Marker Score: 87
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.04
    Marker Score: 87
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.04
    Marker Score: 88
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.03
    Marker Score: 46
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.03
    Marker Score: 151
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.03
    Marker Score: 87
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.03
    Marker Score: 87
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.03
    Marker Score: 86
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.02
    Marker Score: 88

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Other Information

# Summary HOXC13 is a homeobox C13 protein that is highly expressed in various cell types during embryonic and early postnatal development. It plays a crucial role in regulating the development of multiple tissues and organs, including the eye, hair, nails, and the cardiovascular system. # Key characteristics * HOXC13 is a large protein with a molecular weight of approximately 130 kDa. * It belongs to the HOX family of homeobox genes, which are known for their ability to regulate the expression of other genes by interacting with DNA sequences known as homeodomain repeat elements (HREs). * HOXC13 is a key regulator of hair follicle development, as it is expressed in hair follicle-associated cells such as hair follicles, sebaceous glands, and sweat glands. * It is also involved in the development of the cardiovascular system, as it is expressed in endothelial cells of blood vessels and the heart. # Pathways and functions * HOXC13 is a key regulator of hair follicle development. * It is essential for the formation of hair follicles and the development of the entire hair shaft, including the epidermis, dermis, and hypodermis. * It also plays a role in the development of the cardiovascular system, as it is expressed in endothelial cells of blood vessels and the heart. * HOXC13 interacts with other HOX proteins to regulate the development of these tissues. # Clinical significance HOXC13 mutations have been linked to several human diseases, including lissencephaly, which is a condition characterized by a lack of brain tissue in the forebrain and midbrain. HOXC13 mutations are also associated with other developmental disorders, such as heart defects, cardiovascular diseases, and eye abnormalities. Therefore, HOXC13 is a critical gene for human health, and its dysfunction can lead to a variety of developmental disorders.

Genular Protein ID: 623817548

Symbol: HXC13_HUMAN

Name: Homeobox protein Hox-C13

UniProtKB Accession Codes:

P31276 Q5BL02 Q96J32 Q9NR24 Q9NYD5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 EPD 1 Ensembl 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10835276

Title: Selection of homeotic proteins for binding to a human DNA replication origin.

PubMed ID: 10835276

DOI: 10.1006/jmbi.2000.3782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 2574852

Title: The human HOX gene family.

PubMed ID: 2574852

DOI: 10.1093/nar/17.24.10385

PubMed ID: 23063621

Title: Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

PubMed ID: 23063621

DOI: 10.1016/j.ajhg.2012.08.029

PubMed ID: 28297138

Title: A novel homozygous missense mutation in HOXC13 leads to autosomal recessive pure hair and nail ectodermal dysplasia.

PubMed ID: 28297138

DOI: 10.1111/pde.13074

Sequence Information:

  • Length: 330
  • Mass: 35379
  • Checksum: 7D67C5F1E5E4E915
  • Sequence:
    • MTTSLLLHPR WPESLMYVYE DSAAESGIGG GGGGGGGGTG GAGGGCSGAS PGKAPSMDGL 
GSSCPASHCR DLLPHPVLGR PPAPLGAPQG AVYTDIPAPE AARQCAPPPA PPTSSSATLG 
YGYPFGGSYY GCRLSHNVNL QQKPCAYHPG DKYPEPSGAL PGDDLSSRAK EFAFYPSFAS 
SYQAMPGYLD VSVVPGISGH PEPRHDALIP VEGYQHWALS NGWDSQVYCS KEQSQSAHLW 
KSPFPDVVPL QPEVSSYRRG RKKRVPYTKV QLKELEKEYA ASKFITKEKR RRISATTNLS 
ERQVTIWFQN RRVKEKKVVS KSKAPHLHST

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.