Details for: HOXD4

Gene ID: 3233

Symbol: HOXD4

Ensembl ID: ENSG00000170166

Description: homeobox D4

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)
  • Cell junction
    (GO:0030054)
  • 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 organ development
    (GO:0048568)
  • Embryonic skeletal system morphogenesis
    (GO:0048704)
  • 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)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Stem cell differentiation
    (GO:0048863)

Cells (max top 100)

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

  • Cell Name: microglial cell (CL0000129)
    Fold Change: 2.26
    Marker Score: 4116
  • Cell Name: T cell (CL0000084)
    Fold Change: 2.12
    Marker Score: 3661
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.59
    Marker Score: 1777
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.51
    Marker Score: 1038.5
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 867
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.15
    Marker Score: 7614
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4803
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 1.14
    Marker Score: 630
  • Cell Name: monocyte (CL0000576)
    Fold Change: 1.13
    Marker Score: 1473
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.11
    Marker Score: 1056
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.09
    Marker Score: 795
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71810
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48036.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5315
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 372.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.87
    Marker Score: 588
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.81
    Marker Score: 368
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.78
    Marker Score: 452
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1255
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.71
    Marker Score: 1144
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.7
    Marker Score: 538.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.68
    Marker Score: 242
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.63
    Marker Score: 385.5
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.62
    Marker Score: 145
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.6
    Marker Score: 317
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.59
    Marker Score: 819
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.56
    Marker Score: 371.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.49
    Marker Score: 203.5
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 473
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.48
    Marker Score: 201
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 277
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.45
    Marker Score: 939
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.45
    Marker Score: 88
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.45
    Marker Score: 280
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.43
    Marker Score: 242
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.42
    Marker Score: 449
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.4
    Marker Score: 375.5
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.4
    Marker Score: 210
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 370.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.37
    Marker Score: 697
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.35
    Marker Score: 346.5
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.35
    Marker Score: 231
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.34
    Marker Score: 348.5
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.33
    Marker Score: 157
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.33
    Marker Score: 160
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.32
    Marker Score: 335
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.31
    Marker Score: 546
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.3
    Marker Score: 304
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.28
    Marker Score: 403
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.28
    Marker Score: 85
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.28
    Marker Score: 165
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.26
    Marker Score: 119
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.26
    Marker Score: 164.5
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.25
    Marker Score: 181
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.25
    Marker Score: 461
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.25
    Marker Score: 363
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.25
    Marker Score: 672
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.25
    Marker Score: 2484
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.24
    Marker Score: 600
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.24
    Marker Score: 559
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.24
    Marker Score: 264
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.23
    Marker Score: 467
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.23
    Marker Score: 470
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.22
    Marker Score: 379
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.22
    Marker Score: 369
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.21
    Marker Score: 259.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.21
    Marker Score: 1256.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.21
    Marker Score: 65
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.21
    Marker Score: 111
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.2
    Marker Score: 193
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.2
    Marker Score: 550
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.19
    Marker Score: 78
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.19
    Marker Score: 3006
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.19
    Marker Score: 63
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.19
    Marker Score: 39.5
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.18
    Marker Score: 47
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.18
    Marker Score: 377
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.18
    Marker Score: 195
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.18
    Marker Score: 44
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.18
    Marker Score: 39.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.18
    Marker Score: 106
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.17
    Marker Score: 37.5
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.17
    Marker Score: 210.5
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.17
    Marker Score: 33.5
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.16
    Marker Score: 174

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Other Information

**Key characteristics:** - HOXD4 is a homeobox D4 protein. - It is a key transcription factor for the development of the hindbrain. - It is expressed in a highly restricted pattern in the developing brain, with highest expression in the developing paraventricular zone (PVZ), which gives rise to the hindbrain. **Pathways and functions:** - HOXD4 is a key regulator of anterior/posterior (A/P) patterning during early embryogenesis. - It is required for the specification of the PVZ and the subsequent development of the hindbrain. - It is also required for the differentiation of other tissues in the central nervous system (CNS). - HOXD4 is involved in cell junction formation and the regulation of neurogenesis. - It is also involved in chromatin remodeling and the regulation of gene expression. **Clinical significance:** - Mutations in HOXD4 have been linked to a number of human diseases, including lissencephaly, microcephaly, and other CNS abnormalities. - HOXD4 is a promising target for the treatment of these disorders. **Additional notes:** - HOXD4 is a highly conserved gene, with a similar gene in mice named Hoxd4. - It is a key regulator of neural tube specification. - It is a key regulator of the development of the cardiovascular system and the formation of the midbrain.

Genular Protein ID: 1201085333

Symbol: HXD4_HUMAN

Name: Homeobox protein Hox-D4

UniProtKB Accession Codes:

P09016 B2R9R3 Q96AU0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 5 Ensembl 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 3 PROSITE-ProRule 1 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 1 SAM 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: 1975093

Title: Molecular mechanisms underlying the expression of the human HOX-5.1 gene.

PubMed ID: 1975093

DOI: 10.1093/nar/18.15.4361

PubMed ID: 2879245

Title: Differential and stage-related expression in embryonic tissues of a new human homoeobox gene.

PubMed ID: 2879245

DOI: 10.1038/324664a0

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 2576652

Title: Organization of human class I homeobox genes.

PubMed ID: 2576652

DOI: 10.1139/g89-133

PubMed ID: 7791786

Title: Both Pbx1 and E2A-Pbx1 bind the DNA motif ATCAATCAA cooperatively with the products of multiple murine Hox genes, some of which are themselves oncogenes.

PubMed ID: 7791786

DOI: 10.1128/mcb.15.7.3786

Sequence Information:

  • Length: 255
  • Mass: 27885
  • Checksum: 39205343CDB0142F
  • Sequence:
    • MVMSSYMVNS KYVDPKFPPC EEYLQGGYLG EQGADYYGGG AQGADFQPPG LYPRPDFGEQ 
PFGGSGPGPG SALPARGHGQ EPGGPGGHYA APGEPCPAPP APPPAPLPGA RAYSQSDPKQ 
PPSGTALKQP AVVYPWMKKV HVNSVNPNYT GGEPKRSRTA YTRQQVLELE KEFHFNRYLT 
RRRRIEIAHT LCLSERQIKI WFQNRRMKWK KDHKLPNTKG RSSSSSSSSS CSSSVAPSQH 
LQPMAKDHHT DLTTL

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.