Details for: HOXD8

Gene ID: 3234

Symbol: HOXD8

Ensembl ID: ENSG00000175879

Description: homeobox D8

Associated with

  • Anterior/posterior axis specification, embryo
    (GO:0008595)
  • 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)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nucleus
    (GO:0005634)
  • 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 transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Skeletal system morphogenesis
    (GO:0048705)

Cells (max top 100)

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

  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.5
    Marker Score: 6306
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.23
    Marker Score: 2360
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 2.19
    Marker Score: 3997
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.94
    Marker Score: 2740
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.82
    Marker Score: 960
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.8
    Marker Score: 4828
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 1.72
    Marker Score: 787
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.68
    Marker Score: 394
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.56
    Marker Score: 2586
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 866
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4801
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.14
    Marker Score: 7605
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.1
    Marker Score: 1162
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.09
    Marker Score: 2182
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251790
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.03
    Marker Score: 429.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71808
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48033
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.99
    Marker Score: 1727
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.96
    Marker Score: 1628.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.94
    Marker Score: 2570
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5309
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.93
    Marker Score: 618
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5283
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.86
    Marker Score: 742
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.85
    Marker Score: 916
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.83
    Marker Score: 1404
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 607
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.77
    Marker Score: 510
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.77
    Marker Score: 185
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.77
    Marker Score: 776
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.76
    Marker Score: 149
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 691
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.75
    Marker Score: 4906
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.72
    Marker Score: 1034
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 455
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.7
    Marker Score: 1456
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.68
    Marker Score: 638
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.67
    Marker Score: 211
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.65
    Marker Score: 461
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.62
    Marker Score: 6266
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.61
    Marker Score: 650
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.59
    Marker Score: 695
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.57
    Marker Score: 542
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.55
    Marker Score: 254
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.55
    Marker Score: 293
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.54
    Marker Score: 224
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.54
    Marker Score: 416
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.53
    Marker Score: 106
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.51
    Marker Score: 319
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.5
    Marker Score: 450
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 474
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.49
    Marker Score: 437
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.49
    Marker Score: 748
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.45
    Marker Score: 312
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.45
    Marker Score: 117
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.44
    Marker Score: 250
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.43
    Marker Score: 1045.5
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.42
    Marker Score: 287
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.42
    Marker Score: 134
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.42
    Marker Score: 1501
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.41
    Marker Score: 299
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.4
    Marker Score: 288
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.4
    Marker Score: 120
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.39
    Marker Score: 436
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.38
    Marker Score: 718
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.38
    Marker Score: 93
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.38
    Marker Score: 146
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.37
    Marker Score: 189
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.37
    Marker Score: 233
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.37
    Marker Score: 107
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 372
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.37
    Marker Score: 349
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.37
    Marker Score: 395
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.36
    Marker Score: 1564
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.36
    Marker Score: 92
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.36
    Marker Score: 209
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.35
    Marker Score: 94
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.35
    Marker Score: 199
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.34
    Marker Score: 643
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.33
    Marker Score: 776
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.33
    Marker Score: 85
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.32
    Marker Score: 1881
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.31
    Marker Score: 151
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.31
    Marker Score: 129
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3
    Marker Score: 3431
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.3
    Marker Score: 338

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Other Information

## Summary HOXD8 is a transcription factor that plays a crucial role in the development of the human body. It is specifically expressed in cells of the kidney, where it is involved in various developmental processes, including the specification of the anterior-posterior axis, the differentiation of epithelial cells, and the regulation of stem cell function. ## Key characteristics * HOXD8 is a homeobox protein, a family of transcription factors that play a fundamental role in the early development of the embryo. * It is a key regulator of anterior-posterior axis specification, as it is expressed in the developing neural tube and is essential for the formation of the midbrain and surrounding structures. * HOXD8 is also involved in the differentiation of various epithelial cell types, including kidney collecting duct epithelial cells, kidney distal convoluted tubule epithelial cells, and kidney loop of Henle thick ascending limb epithelial cells. * It is involved in the regulation of stem cell function, as it is expressed in hematopoietic stem cells and plays a role in their differentiation into various blood cell types. ## Pathways and functions * HOXD8 is a key regulator of the anterior-posterior axis specification of the developing embryo. It is expressed in the developing neural tube and is essential for the formation of the midbrain and surrounding structures. * It is also involved in the differentiation of various epithelial cell types, including kidney collecting duct epithelial cells, kidney distal convoluted tubule epithelial cells, and kidney loop of Henle thick ascending limb epithelial cells. * HOXD8 is involved in the regulation of stem cell function, as it is expressed in hematopoietic stem cells and plays a role in their differentiation into various blood cell types. ## Clinical significance HOXD8 mutations have been linked to a number of human diseases, including microcephaly, neural tube defects, and kidney abnormalities. These findings suggest that HOXD8 is a critical gene for human development and that mutations in the HOXD8 gene can lead to a variety of developmental disorders.

Genular Protein ID: 2495310360

Symbol: HXD8_HUMAN

Name: Homeobox protein Hox-D8

UniProtKB Accession Codes:

P13378 F8WBG7 Q5BL00 Q8IXZ1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 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 3 Pumba 1 RNAct 1 RefSeq 2 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11857506

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

PubMed ID: 11857506

DOI: 10.1002/tera.10009

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 2568311

Title: Complementary homeo protein gradients in developing limb buds.

PubMed ID: 2568311

DOI: 10.1101/gad.3.5.641

Sequence Information:

  • Length: 290
  • Mass: 31911
  • Checksum: 75FF95A73E2AA85F
  • Sequence:
    • MSSYFVNPLY SKYKAAAAAA AAAGEAINPT YYDCHFAPEV GGRHAAAAAA LQLYGNSAAG 
FPHAPPQAHA HPHPSPPPSG TGCGGREGRG QEYFHPGGGS PAAAYQAAPP PPPHPPPPPP 
PPPCGGIACH GEPAKFYGYD NLQRQPIFTT QQEAELVQYP DCKSSSGNIG EDPDHLNQSS 
SPSQMFPWMR PQAAPGRRRG RQTYSRFQTL ELEKEFLFNP YLTRKRRIEV SHALALTERQ 
VKIWFQNRRM KWKKENNKDK FPVSRQEVKD GETKKEAQEL EEDRAEGLTN

Genular Protein ID: 3441254384

Symbol: A0A0A0MSX5_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0A0MSX5

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 4 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 106
  • Mass: 12941
  • Checksum: FCEE1BC0DF94BC80
  • Sequence:
    • MFPWMRPQAA PGRRRGRQTY SRFQTLELEK EFLFNPYLTR KRRIEVSHAL ALTERQVKIW 
FQNRRMKWKK ENNKDKFPVS RQEVKDGETK KEAQELEEDR AEGLTN

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.