Details for: HOXC4

Gene ID: 3221

Symbol: HOXC4

Ensembl ID: ENSG00000198353

Description: homeobox C4

Associated with

  • Activation of anterior hox genes in hindbrain development during early embryogenesis
    (R-HSA-5617472)
  • Activation of hox genes during differentiation
    (R-HSA-5619507)
  • Developmental biology
    (R-HSA-1266738)
  • Anterior/posterior pattern specification
    (GO:0009952)
  • Cartilage development
    (GO:0051216)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Embryonic skeletal system morphogenesis
    (GO:0048704)
  • Hmg box domain binding
    (GO:0071837)
  • Nucleoplasm
    (GO:0005654)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 1.4496
    Cell Significance Index: 8.2400
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.3408
    Cell Significance Index: 10.4200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.9002
    Cell Significance Index: 171.3100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6200
    Cell Significance Index: 61.3400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5224
    Cell Significance Index: 471.6800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4299
    Cell Significance Index: 12.0100
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.4181
    Cell Significance Index: 4.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4062
    Cell Significance Index: 8.6500
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.3577
    Cell Significance Index: 4.1200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3258
    Cell Significance Index: 52.9800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3056
    Cell Significance Index: 33.2400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.2545
    Cell Significance Index: 5.8800
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.2391
    Cell Significance Index: 2.1600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2333
    Cell Significance Index: 6.3500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2128
    Cell Significance Index: 10.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2031
    Cell Significance Index: 4.4000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1905
    Cell Significance Index: 6.6200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1764
    Cell Significance Index: 10.5900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1737
    Cell Significance Index: 12.0200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1605
    Cell Significance Index: 3.3600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1255
    Cell Significance Index: 14.6200
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.0568
    Cell Significance Index: 0.6600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0514
    Cell Significance Index: 6.0600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0504
    Cell Significance Index: 1.7700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0461
    Cell Significance Index: 0.9000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0302
    Cell Significance Index: 0.7600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0280
    Cell Significance Index: 5.5500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0236
    Cell Significance Index: 0.6800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0236
    Cell Significance Index: 12.8700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.0217
    Cell Significance Index: 0.6400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0117
    Cell Significance Index: 0.1500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0072
    Cell Significance Index: 5.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0020
    Cell Significance Index: 0.8800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0008
    Cell Significance Index: -0.0200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0026
    Cell Significance Index: -0.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0033
    Cell Significance Index: -6.2000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0040
    Cell Significance Index: -7.4000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0045
    Cell Significance Index: -0.6200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0048
    Cell Significance Index: -7.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0063
    Cell Significance Index: -3.9100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0076
    Cell Significance Index: -5.7700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0079
    Cell Significance Index: -5.8200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0080
    Cell Significance Index: -5.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0088
    Cell Significance Index: -4.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0136
    Cell Significance Index: -2.4600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0155
    Cell Significance Index: -7.0500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0172
    Cell Significance Index: -0.5500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0176
    Cell Significance Index: -5.0800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0192
    Cell Significance Index: -0.2800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0215
    Cell Significance Index: -2.2000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0231
    Cell Significance Index: -3.9500
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0247
    Cell Significance Index: -0.2100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0272
    Cell Significance Index: -3.3400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0282
    Cell Significance Index: -5.9300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0285
    Cell Significance Index: -1.7500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0298
    Cell Significance Index: -5.9800
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0316
    Cell Significance Index: -0.2100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0426
    Cell Significance Index: -4.8800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0428
    Cell Significance Index: -5.5300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0450
    Cell Significance Index: -2.9000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0460
    Cell Significance Index: -3.6400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0468
    Cell Significance Index: -0.9700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0477
    Cell Significance Index: -3.3800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0487
    Cell Significance Index: -1.2800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0601
    Cell Significance Index: -6.2600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0630
    Cell Significance Index: -3.9700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0706
    Cell Significance Index: -3.6700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0720
    Cell Significance Index: -2.0700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0735
    Cell Significance Index: -5.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0765
    Cell Significance Index: -3.6000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0785
    Cell Significance Index: -0.6000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0852
    Cell Significance Index: -5.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0861
    Cell Significance Index: -6.6100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0886
    Cell Significance Index: -3.6300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0975
    Cell Significance Index: -3.5800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1022
    Cell Significance Index: -1.5400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1060
    Cell Significance Index: -0.8900
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: -0.1120
    Cell Significance Index: -1.4100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1126
    Cell Significance Index: -1.6000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1136
    Cell Significance Index: -6.3800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1201
    Cell Significance Index: -2.9100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1293
    Cell Significance Index: -2.1300
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.1341
    Cell Significance Index: -1.4000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1406
    Cell Significance Index: -2.2300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1464
    Cell Significance Index: -5.1300
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.1549
    Cell Significance Index: -0.9700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.1666
    Cell Significance Index: -1.3300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1704
    Cell Significance Index: -5.5800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1725
    Cell Significance Index: -3.4400
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.1757
    Cell Significance Index: -1.8600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1802
    Cell Significance Index: -3.0200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1803
    Cell Significance Index: -1.9600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1843
    Cell Significance Index: -5.8700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1849
    Cell Significance Index: -4.6100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1851
    Cell Significance Index: -7.0100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1886
    Cell Significance Index: -5.5400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1955
    Cell Significance Index: -5.2300
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: -0.1992
    Cell Significance Index: -0.4600
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.2034
    Cell Significance Index: -2.2200
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.2101
    Cell Significance Index: -1.3700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HOXC4, a homeobox-containing gene, is characterized by its distinctive HMG-box domain, which mediates its transcriptional regulatory functions. This gene is part of the Hox gene family, a group of genes that encode transcription factors essential for the development and patterning of various tissues, including the anterior/posterior axis of the embryo. The expression of HOXC4 is tightly regulated during embryonic development, with significant expression observed in cells of the kidney, colon, and brain. **Pathways and Functions:** HOXC4 is involved in multiple developmental pathways, including: 1. **Anterior/posterior pattern specification**: HOXC4 plays a crucial role in establishing the anterior/posterior axis of the embryo, which is essential for proper development and patterning of various tissues. 2. **Cartilage development**: HOXC4 is involved in the regulation of cartilage development, a process critical for the formation of skeletal structures. 3. **Chromatin regulation**: HOXC4 interacts with chromatin to regulate gene expression, influencing the development and maintenance of tissue-specific gene programs. 4. **RNA polymerase II-specific transcriptional regulation**: HOXC4 acts as a transcriptional activator, regulating the expression of target genes through direct interaction with RNA polymerase II. **Clinical Significance:** The dysregulation of HOXC4 has been implicated in various human diseases, including: 1. **Skeletal disorders**: Mutations in HOXC4 have been associated with skeletal abnormalities, such as osteogenesis imperfecta and achondroplasia. 2. **Neurological disorders**: Abnormal expression of HOXC4 has been linked to neurological conditions, including epilepsy and cognitive impairment. 3. **Cancer**: HOXC4 has been implicated in the development and progression of various cancers, including colorectal and kidney cancers. In conclusion, HOXC4 is a crucial gene involved in the development and patterning of various tissues during embryogenesis. Its dysregulation has been implicated in various human diseases, highlighting the need for further research into the molecular mechanisms underlying HOXC4 function and its role in human health and disease. **Recommendations for Future Research:** 1. **Investigate the molecular mechanisms underlying HOXC4 function**: Elucidating the molecular mechanisms by which HOXC4 regulates gene expression and interacts with chromatin will provide valuable insights into its role in developmental biology and disease. 2. **Examine the clinical significance of HOXC4 in human disease**: Further studies are needed to fully understand the clinical implications of HOXC4 dysregulation in human disease, including the development of novel therapeutic strategies. 3. **Explore the functional conservation of HOXC4 across species**: Comparative studies will provide insights into the conservation of HOXC4 function across species, shedding light on the evolutionary conservation of this gene family.

Genular Protein ID: 2110962987

Symbol: HXC4_HUMAN

Name: Homeobox protein Hox-C4

UniProtKB Accession Codes:

P09017

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 4 Ensembl 2 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 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: 2898768

Title: At least three human homeoboxes on chromosome 12 belong to the same transcription unit.

PubMed ID: 2898768

DOI: 10.1093/nar/16.12.5379

PubMed ID: 11857506

Title: Complete mutation analysis panel of the 39 human HOX genes.

PubMed ID: 11857506

DOI: 10.1002/tera.10009

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 2576652

Title: Organization of human class I homeobox genes.

PubMed ID: 2576652

DOI: 10.1139/g89-133

Sequence Information:

  • Length: 264
  • Mass: 29811
  • Checksum: 5CCD13995574226E
  • Sequence:
    • MIMSSYLMDS NYIDPKFPPC EEYSQNSYIP EHSPEYYGRT RESGFQHHHQ ELYPPPPPRP 
SYPERQYSCT SLQGPGNSRG HGPAQAGHHH PEKSQSLCEP APLSGASASP SPAPPACSQP 
APDHPSSAAS KQPIVYPWMK KIHVSTVNPN YNGGEPKRSR TAYTRQQVLE LEKEFHYNRY 
LTRRRRIEIA HSLCLSERQI KIWFQNRRMK WKKDHRLPNT KVRSAPPAGA APSTLSAATP 
GTSEDHSQSA TPPEQQRAED ITRL

Genular Protein ID: 1990223159

Symbol: Q86TF7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86TF7

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 1 IntAct 1 InterPro 7 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 4 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 2 RuleBase 1 SAM 1 SMART 1 SUPFAM 1

Citations:

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

Sequence Information:

  • Length: 264
  • Mass: 29784
  • Checksum: B1CD1A0B08C2F903
  • Sequence:
    • MIMSSYLMDS NYIDPKFPPC EEYSQNSYIP EHSPEYYGRT RESGFQHHHQ ELYPPPPPRP 
SYPERQYSCT SLQGPGNSRG HGPAQAGHHH PEKSQSLCEP APLSGASASP SPAPPACSQP 
APDHPSSAAS KQPIVYPWMK KIHVSTVNPS YNGGEPKRSR TAYTRQQVLE LEKEFHYNRY 
LTRRRRIEIA HSLCLSERQI KIWFQNRRMK WKKDHRLPNT KVRSAPPAGA APSTLSAATP 
GTSEDHSQSA TPPEQQRAED ITRL

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.