HOXD13 (homeobox D13)

2003-02-01 Affiliation

Identity

HGNC

HOXD13

LOCATION

2q31.1

LOCUSID

3239

ALIAS

BDE,BDSD,HOX4I,SPD,SPD1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000128714	ENST00000392539	P35453

Expression (GTEx)

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 ID	Year	Title	Citations
12649808	2003	Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.	28
8817328	1996	Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.	27
18566322	2008	Leukemic transformation in mice expressing a NUP98-HOXD13 transgene is accompanied by spontaneous mutations in Nras, Kras, and Cbl.	25
17236141	2007	Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.	21
19488988	2009	HOX D13 expression across 79 tumor tissue types.	21
19453261	2009	High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.	20
11778160	2002	A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.	19
16861351	2006	The Flt3 receptor tyrosine kinase collaborates with NUP98-HOX fusions in acute myeloid leukemia.	19
12620993	2003	An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.	16
19703996	2009	HOXD13 binds DNA replication origins to promote origin licensing and is inhibited by geminin.	12

Citation

Dessen P

HOXD13 (homeobox D13)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/161/hoxd13-(homeobox-d13)