Details for: HOXD13

Gene ID: 3239

Symbol: HOXD13

Ensembl ID: ENSG00000128714

Description: homeobox D13

Associated with

  • Anterior/posterior pattern specification
    (GO:0009952)
  • Branch elongation of an epithelium
    (GO:0060602)
  • 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
    (GO:0003677)
  • Embryonic digit morphogenesis
    (GO:0042733)
  • Embryonic hindgut morphogenesis
    (GO:0048619)
  • Male genitalia development
    (GO:0030539)
  • Morphogenesis of an epithelial fold
    (GO:0060571)
  • Nucleoplasm
    (GO:0005654)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
    (GO:0060527)
  • Regulation of branching involved in prostate gland morphogenesis
    (GO:0060687)
  • Regulation of cell population proliferation
    (GO:0042127)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Response to testosterone
    (GO:0033574)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Skeletal system development
    (GO:0001501)
  • Transcription by rna polymerase ii
    (GO:0006366)

Cells (max top 100)

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

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.4
    Marker Score: 2420
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 2.26
    Marker Score: 4116
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.95
    Marker Score: 2175
  • Cell Name: T cell (CL0000084)
    Fold Change: 1.77
    Marker Score: 3057.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7686
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.06
    Marker Score: 1010
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71791
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48020
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5332
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.85
    Marker Score: 490
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.73
    Marker Score: 1174
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.62
    Marker Score: 496
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 281
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.45
    Marker Score: 264
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.41
    Marker Score: 435
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.4
    Marker Score: 362
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.36
    Marker Score: 358
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.36
    Marker Score: 306
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.35
    Marker Score: 602
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.31
    Marker Score: 299
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.3
    Marker Score: 476
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.27
    Marker Score: 339
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.27
    Marker Score: 557
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.24
    Marker Score: 62
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.23
    Marker Score: 60
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 0.22
    Marker Score: 55
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.22
    Marker Score: 411
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2
    Marker Score: 58
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2
    Marker Score: 144
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.2
    Marker Score: 59
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.2
    Marker Score: 62
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.2
    Marker Score: 63
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.19
    Marker Score: 464.5
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.19
    Marker Score: 49
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.19
    Marker Score: 2911
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.18
    Marker Score: 47
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.18
    Marker Score: 55
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.17
    Marker Score: 72
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.17
    Marker Score: 351
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.17
    Marker Score: 77
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.17
    Marker Score: 58
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.17
    Marker Score: 88
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.17
    Marker Score: 48
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.17
    Marker Score: 389
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.16
    Marker Score: 418.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.15
    Marker Score: 179
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.15
    Marker Score: 59
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.15
    Marker Score: 54
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.14
    Marker Score: 114
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.14
    Marker Score: 68
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.14
    Marker Score: 57
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.14
    Marker Score: 34
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.14
    Marker Score: 34
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.13
    Marker Score: 49
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.13
    Marker Score: 48.5
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.13
    Marker Score: 73
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.13
    Marker Score: 43
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.12
    Marker Score: 740
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.12
    Marker Score: 81
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.12
    Marker Score: 285
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.12
    Marker Score: 56
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.12
    Marker Score: 137
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.11
    Marker Score: 52
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.11
    Marker Score: 75
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.11
    Marker Score: 59
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.1
    Marker Score: 99
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.1
    Marker Score: 55
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.09
    Marker Score: 37
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.09
    Marker Score: 51
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.09
    Marker Score: 159
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.08
    Marker Score: 54
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.08
    Marker Score: 57
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.08
    Marker Score: 30
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.08
    Marker Score: 54
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.08
    Marker Score: 59
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.07
    Marker Score: 58
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.07
    Marker Score: 33
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.07
    Marker Score: 75
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.07
    Marker Score: 42
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.07
    Marker Score: 37
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.07
    Marker Score: 935
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 0.07
    Marker Score: 59
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.07
    Marker Score: 708
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.06
    Marker Score: 39
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.06
    Marker Score: 71
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.06
    Marker Score: 110
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.06
    Marker Score: 59
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.06
    Marker Score: 79
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.06
    Marker Score: 37
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.06
    Marker Score: 85
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.06
    Marker Score: 58

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Other Information

**Key characteristics** * HOXD13 is a homeobox gene that is involved in the specification of anterior/posterior (A/P) and dorsal/ventral (D/V) patterns in the developing embryo. * It is a key regulator of embryonic digit morphogenesis, embryonic hindgut morphogenesis, and prostate epithelial cord arborization. * It is also involved in the regulation of cell population proliferation, DNA-templated transcription, and response to testosterone. **Pathways and functions** * HOXD13 is a key regulator of anterior/posterior (A/P) and dorsal/ventral (D/V) patterns in the developing embryo. It is expressed in a pattern that is consistent with A/P differentiation, with high expression in the anterior region and low expression in the posterior region. * It is also involved in the development of the embryonic gut and the prostate gland. * HOXD13 is a key regulator of cell population proliferation in the developing embryo. It is expressed in proliferating cells in the developing heart, brain, and gut. * It is also involved in the regulation of DNA-templated transcription. * HOXD13 is involved in the response to testosterone. It is expressed in cells that are responsive to testosterone, such as blood vessel endothelial cells and prostate epithelial cells. **Clinical significance** HOXD13 mutations are associated with a number of human diseases, including Hirschsprung's disease, which is a genetic disorder that is caused by mutations in the HoxD13 gene. Hirschsprung's disease is characterized by the absence of smooth muscle in the colon, which can lead to constipation and other digestive problems. HOXD13 is a promising target for the treatment of Hirschsprung's disease. Mutations in the HoxD13 gene can be corrected by surgical correction of the underlying genetic defect. This can lead to the restoration of smooth muscle in the colon and the relief of symptoms such as constipation.

Genular Protein ID: 1623845817

Symbol: HXD13_HUMAN

Name: Homeobox protein Hox-D13

UniProtKB Accession Codes:

P35453

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 EPD 1 Ensembl 1 GO 24 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 14 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 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 Pumba 1 RNAct 1 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8614804

Title: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

PubMed ID: 8614804

DOI: 10.1126/science.272.5261.548

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: 1675198

Title: EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2.

PubMed ID: 1675198

DOI: 10.1016/0888-7543(91)90482-t

PubMed ID: 19006232

Title: Identification of a HOXD13 mutation in a VACTERL patient.

PubMed ID: 19006232

DOI: 10.1002/ajmg.a.32426

PubMed ID: 23995701

Title: Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

PubMed ID: 23995701

DOI: 10.1101/gr.157610.113

PubMed ID: 8817328

Title: Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.

PubMed ID: 8817328

DOI: 10.1093/hmg/5.7.945

PubMed ID: 12414828

Title: Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

PubMed ID: 12414828

DOI: 10.1136/jmg.39.11.852

PubMed ID: 12649808

Title: Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

PubMed ID: 12649808

DOI: 10.1086/374721

PubMed ID: 16222680

Title: A 72-year-old Danish puzzle resolved -- comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.

PubMed ID: 16222680

DOI: 10.1002/ajmg.a.30971

PubMed ID: 17236141

Title: Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

PubMed ID: 17236141

DOI: 10.1086/511387

PubMed ID: 24789103

Title: Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

PubMed ID: 24789103

DOI: 10.1371/journal.pone.0096192

PubMed ID: 26581570

Title: A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

PubMed ID: 26581570

DOI: 10.1002/ajmg.a.37464

Sequence Information:

  • Length: 343
  • Mass: 36101
  • Checksum: CF34D0319021430A
  • Sequence:
    • MSRAGSWDMD GLRADGGGAG GAPASSSSSS VAAAAASGQC RGFLSAPVFA GTHSGRAAAA 
AAAAAAAAAA ASGFAYPGTS ERTGSSSSSS SSAVVAARPE APPAKECPAP TPAAAAAAPP 
SAPALGYGYH FGNGYYSCRM SHGVGLQQNA LKSSPHASLG GFPVEKYMDV SGLASSSVPA 
NEVPARAKEV SFYQGYTSPY QHVPGYIDMV STFGSGEPRH EAYISMEGYQ SWTLANGWNS 
QVYCTKDQPQ GSHFWKSSFP GDVALNQPDM CVYRRGRKKR VPYTKLQLKE LENEYAINKF 
INKDKRRRIS AATNLSERQV TIWFQNRRVK DKKIVSKLKD TVS

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.