HOXC13 (homeobox C13)

2009-06-01   Toshiyuki Yamada  , Shigeki Tsuchida  

Department of Biochemistry, Genome Biology, Hirosaki University Graduate School of Medicine, 5 Zaifu-Cho, Hirosaki 036-8562, Japan

Identity

HGNC
HOXC13
LOCATION
12q13.13
LOCUSID
3229
ALIAS
ECTD9,HOX3,HOX3G
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

Spans around 7.7 kb genomic region, contains 2 exons, homeodomain is located in exon 2.

Transcription

Transcript; 2.2 kb, open reading frame; 990 bp.

Proteins

Atlas Image

Description

330 amino acids, DNA binding protein with a 60 aa of homeodomain (helix-turn-helix domain) in the C-terminal.

Expression

In nail, hair follicle, tongue (filiform papilla), AML cells, erythroleukemia cells.

Localisation

Nucleus.

Function

Important for patterning of embryo, role in hair follicular formation and hair cycle control, role in leukemogenesis of myeloid cells and differentiation of erythroleukemia cells.

Homology

With homeodomain proteins, ABD-B homeodomain proteins.

Mutations

Germinal

Not known.

Somatic

Not known.

Implicated in

Entity name
t(11;12)(p15;q13)
Disease
AML-M2
Cytogenetics
Chromosome translocation formimg a fusion transcript of 5 NUP98 gene and 3 HOXC13 gene.
Hybrid gene
5 NUP98-3 HOXC13.
Fusion protein
Fusion between FG motifs of NUP98 and the homeodomain of HOXC13.
Atlas Image
Entity name
Erythroleukemia
Cytogenetics
Not examined.
Hybrid gene
Not examined.
Oncogenesis
Expressed in human and mouse erythroleukemia cells, overexpression of HOXC13 inhibits differentiation of murine erythroleukemia (MEL) cells.

Bibliography

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 3229
MIM: 142976
HGNC: 5125
Ensembl: ENSG00000123364

Variants:

dbSNP: 3229
ClinVar: 3229
TCGA: ENSG00000123364
COSMIC: HOXC13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123364ENST00000243056P31276

Expression (GTEx)

0
5
10
15
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
hair
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
368332852023Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women.0
380578522023Silencing HOXC13 exerts anti-prostate cancer effects by inducing DNA damage and activating cGAS/STING/IRF3 pathway.0
368332852023Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women.0
380578522023Silencing HOXC13 exerts anti-prostate cancer effects by inducing DNA damage and activating cGAS/STING/IRF3 pathway.0
360295032022LncRNA HOXC-AS5 Affects the Proliferation, Invasion and Cell Cycle of Ameloblastoma Cells by Acting on the Target Gene HOXC13.1
360295032022LncRNA HOXC-AS5 Affects the Proliferation, Invasion and Cell Cycle of Ameloblastoma Cells by Acting on the Target Gene HOXC13.1
334270252021HOXC-AS2 mediates the proliferation, apoptosis, and migration of non-small cell lung cancer by combining with HOXC13 gene.7
343097672021HOXC13 promotes cervical cancer proliferation, invasion and Warburg effect through β-catenin/c-Myc signaling pathway.8
347632322021HOXC6/8/10/13 predict poor prognosis and associate with immune infiltrations in glioblastoma.5
334270252021HOXC-AS2 mediates the proliferation, apoptosis, and migration of non-small cell lung cancer by combining with HOXC13 gene.7
343097672021HOXC13 promotes cervical cancer proliferation, invasion and Warburg effect through β-catenin/c-Myc signaling pathway.8
347632322021HOXC6/8/10/13 predict poor prognosis and associate with immune infiltrations in glioblastoma.5
316425142020The homeobox transcription factor HOXC13 upregulates human papillomavirus E1 gene expression and contributes to viral genome maintenance.4
327637782020HOXC13-AS accelerates cell proliferation and migration in oral squamous cell carcinoma via miR-378g/HOXC13 axis.13
316425142020The homeobox transcription factor HOXC13 upregulates human papillomavirus E1 gene expression and contributes to viral genome maintenance.4

Citation

Toshiyuki Yamada ; Shigeki Tsuchida

HOXC13 (homeobox C13)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/473/gene-fusions/img/teaching-explorer/