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)

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

  • Cell Name: pulmonary alveolar type 1 cell (CL0002062)
    Fold Change: 8.4967
    Cell Significance Index: 93.2700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 3.7667
    Cell Significance Index: 170.7300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.6764
    Cell Significance Index: 25.1200
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 1.5340
    Cell Significance Index: 16.6300
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.0628
    Cell Significance Index: 12.7100
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.7783
    Cell Significance Index: 8.9700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5917
    Cell Significance Index: 112.6000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4455
    Cell Significance Index: 23.1400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1993
    Cell Significance Index: 24.5000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1292
    Cell Significance Index: 1.8500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0888
    Cell Significance Index: 16.0100
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.0796
    Cell Significance Index: 0.8400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0591
    Cell Significance Index: 1.6100
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.0515
    Cell Significance Index: 0.5100
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0216
    Cell Significance Index: 0.2700
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.0197
    Cell Significance Index: 0.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0163
    Cell Significance Index: 0.5200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0005
    Cell Significance Index: 0.0200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0083
    Cell Significance Index: -1.1400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0097
    Cell Significance Index: -1.9500
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0165
    Cell Significance Index: -0.1800
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0235
    Cell Significance Index: -0.3200
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0281
    Cell Significance Index: -0.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0291
    Cell Significance Index: -1.3700
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.0320
    Cell Significance Index: -0.3400
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: -0.0448
    Cell Significance Index: -0.4300
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.0452
    Cell Significance Index: -0.2800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0489
    Cell Significance Index: -1.3100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.0547
    Cell Significance Index: -0.4700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0600
    Cell Significance Index: -1.0100
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0638
    Cell Significance Index: -0.6600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0652
    Cell Significance Index: -1.3000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0708
    Cell Significance Index: -2.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0710
    Cell Significance Index: -1.9000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0750
    Cell Significance Index: -1.2600
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.0782
    Cell Significance Index: -0.9900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0808
    Cell Significance Index: -2.3800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0816
    Cell Significance Index: -2.1500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0838
    Cell Significance Index: -2.0300
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0870
    Cell Significance Index: -1.5000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0875
    Cell Significance Index: -2.2300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0921
    Cell Significance Index: -1.3600
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0929
    Cell Significance Index: -1.4900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0936
    Cell Significance Index: -1.3300
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0943
    Cell Significance Index: -1.0000
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: -0.0947
    Cell Significance Index: -1.1000
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0976
    Cell Significance Index: -1.1300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0981
    Cell Significance Index: -2.4500
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.1023
    Cell Significance Index: -2.0000
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.1034
    Cell Significance Index: -1.3500
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.1040
    Cell Significance Index: -1.1900
  • Cell Name: club cell (CL0000158)
    Fold Change: -0.1083
    Cell Significance Index: -1.1800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1096
    Cell Significance Index: -2.4000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1100
    Cell Significance Index: -1.4100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.1138
    Cell Significance Index: -1.0100
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: -0.1160
    Cell Significance Index: -1.2900
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.1209
    Cell Significance Index: -1.2500
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.1216
    Cell Significance Index: -1.9700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1229
    Cell Significance Index: -2.0700
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.1233
    Cell Significance Index: -0.8600
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: -0.1259
    Cell Significance Index: -1.4600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1277
    Cell Significance Index: -2.1100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.1277
    Cell Significance Index: -1.7900
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: -0.1291
    Cell Significance Index: -1.0500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1295
    Cell Significance Index: -4.2400
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.1311
    Cell Significance Index: -1.3600
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.1350
    Cell Significance Index: -2.1700
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1413
    Cell Significance Index: -2.0600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1414
    Cell Significance Index: -1.5400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1429
    Cell Significance Index: -2.1700
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.1438
    Cell Significance Index: -0.9000
  • Cell Name: fibroblast (CL0000057)
    Fold Change: -0.1481
    Cell Significance Index: -1.3900
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1482
    Cell Significance Index: -1.2600
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: -0.1490
    Cell Significance Index: -1.9500
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: -0.1505
    Cell Significance Index: -1.8300
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: -0.1507
    Cell Significance Index: -1.5800
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.1509
    Cell Significance Index: -1.9800
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.1517
    Cell Significance Index: -1.8300
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.1540
    Cell Significance Index: -0.9500
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: -0.1551
    Cell Significance Index: -1.6400
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.1568
    Cell Significance Index: -1.8800
  • Cell Name: goblet cell (CL0000160)
    Fold Change: -0.1581
    Cell Significance Index: -1.4300
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: -0.1582
    Cell Significance Index: -1.4800
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.1584
    Cell Significance Index: -1.8700
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1588
    Cell Significance Index: -1.5200
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.1610
    Cell Significance Index: -1.8700
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.1616
    Cell Significance Index: -1.9100
  • Cell Name: stem cell (CL0000034)
    Fold Change: -0.1624
    Cell Significance Index: -1.1800
  • Cell Name: stromal cell (CL0000499)
    Fold Change: -0.1625
    Cell Significance Index: -1.6600
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: -0.1658
    Cell Significance Index: -2.1300
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.1664
    Cell Significance Index: -1.9800
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.1670
    Cell Significance Index: -2.1500
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: -0.1670
    Cell Significance Index: -1.7300
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.1684
    Cell Significance Index: -2.1200
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.1685
    Cell Significance Index: -1.2100
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: -0.1695
    Cell Significance Index: -1.8400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1715
    Cell Significance Index: -1.7800
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.1726
    Cell Significance Index: -1.6700
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.1733
    Cell Significance Index: -2.3800
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: -0.1734
    Cell Significance Index: -2.1100

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** HOXD13 is a highly conserved gene that belongs to the homeobox gene family, which encodes transcription factors that regulate embryonic development. The gene is characterized by its ability to bind to specific DNA sequences and regulate transcription by RNA polymerase II. HOXD13 is specifically expressed in cells involved in embryonic development, including those in the anterior-posterior axis, branching morphogenesis, and male genitalia development. The gene's expression is tightly regulated by various transcription factors and signaling pathways, including those involved in cell proliferation, differentiation, and survival. **Pathways and Functions** HOXD13 is involved in several key developmental and pathological pathways, including: 1. **Anterior-Posterior Pattern Specification**: HOXD13 plays a crucial role in specifying the anterior-posterior axis of the embryo, with its expression patterns correlating with the development of anterior and posterior structures. 2. **Branching Morphogenesis**: HOXD13 regulates the branching morphogenesis of epithelial tissues, including the development of the prostate glandular acinus and the intestinal crypt. 3. **Male Genitalia Development**: HOXD13 is essential for the development of male genitalia, with its expression patterns correlating with the formation of male reproductive organs. 4. **Transcription Regulation**: HOXD13 regulates transcription by RNA polymerase II, influencing the expression of target genes involved in embryonic development and tissue morphogenesis. 5. **Cell Proliferation and Differentiation**: HOXD13 regulates cell proliferation and differentiation in various cell types, including blood vessel endothelial cells, microglial cells, and plasma cells. **Clinical Significance** Dysregulation of HOXD13 has been implicated in various diseases and disorders, including: 1. **Prostate Cancer**: Aberrant expression of HOXD13 has been observed in prostate cancer, suggesting its potential role as a tumor suppressor gene. 2. **Genital Anomalies**: Mutations in HOXD13 have been associated with genital anomalies, highlighting its importance in male genitalia development. 3. **Neurodevelopmental Disorders**: Aberrant expression of HOXD13 has been observed in neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 4. **Cancer Metastasis**: HOXD13 has been implicated in the regulation of cell migration and invasion in cancer metastasis. In conclusion, HOXD13 is a critical gene involved in embryonic development, tissue morphogenesis, and cell regulation. Its dysregulation has been implicated in various diseases and disorders, highlighting its potential as a therapeutic target for the treatment of these conditions.

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 Ensembl 1 GO 24 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 14 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 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 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: 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. 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.