HOXD13 (homeobox D13)

2003-02-01  

Identity

HGNC
HOXD13
LOCATION
2q31.1
LOCUSID
3239
ALIAS
BDE,BDSD,HOX4I,SPD,SPD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3239
MIM: 142989
HGNC: 5136
Ensembl: ENSG00000128714

Variants:

dbSNP: 3239
ClinVar: 3239
TCGA: ENSG00000128714
COSMIC: HOXD13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128714ENST00000392539P35453

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
377761842024Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.0
377761842024Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.0
368332852023Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women.0
374275682023HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.0
368332852023Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women.0
374275682023HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.0
343216102022Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders.3
344676192022A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.1
348595332022Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.5
356531192022EWS::FLI1 and HOXD13 Control Tumor Cell Plasticity in Ewing Sarcoma.14
361959062022Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing.0
343216102022Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders.3
344676192022A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.1
348595332022Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.5
356531192022EWS::FLI1 and HOXD13 Control Tumor Cell Plasticity in Ewing Sarcoma.14

Citation

Dessen P

HOXD13 (homeobox D13)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/161/js/img/meetings/