HOXC13 (homeobox C13)

2009-06-01 Toshiyuki Yamada , Shigeki Tsuchida Affiliation

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

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.

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.

Article Bibliography

Pubmed ID	Last Year	Title	Authors
9420327	1998	Hoxc13 mutant mice lack external hair.	Godwin AR et al
12619167	2003	Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13).	La Starza R et al
1712489	1991	Coordinate regulation of HOX genes in human hematopoietic cells.	Magli MC et al
12461755	2003	Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13).	Panagopoulos I et al
11290294	2001	Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia.	Tkatchenko AV et al
18076876	2008	Interaction between the homeodomain protein HOXC13 and ETS family transcription factor PU.1 and its implication in the differentiation of murine erythroleukemia cells.	Yamada T et al

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000123364	ENST00000243056	P31276

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36833285	2023	Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women.	0
38057852	2023	Silencing HOXC13 exerts anti-prostate cancer effects by inducing DNA damage and activating cGAS/STING/IRF3 pathway.	0
36833285	2023	Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women.	0
38057852	2023	Silencing HOXC13 exerts anti-prostate cancer effects by inducing DNA damage and activating cGAS/STING/IRF3 pathway.	0
36029503	2022	LncRNA HOXC-AS5 Affects the Proliferation, Invasion and Cell Cycle of Ameloblastoma Cells by Acting on the Target Gene HOXC13.	1
36029503	2022	LncRNA HOXC-AS5 Affects the Proliferation, Invasion and Cell Cycle of Ameloblastoma Cells by Acting on the Target Gene HOXC13.	1
33427025	2021	HOXC-AS2 mediates the proliferation, apoptosis, and migration of non-small cell lung cancer by combining with HOXC13 gene.	7
34309767	2021	HOXC13 promotes cervical cancer proliferation, invasion and Warburg effect through β-catenin/c-Myc signaling pathway.	8
34763232	2021	HOXC6/8/10/13 predict poor prognosis and associate with immune infiltrations in glioblastoma.	5
33427025	2021	HOXC-AS2 mediates the proliferation, apoptosis, and migration of non-small cell lung cancer by combining with HOXC13 gene.	7
34309767	2021	HOXC13 promotes cervical cancer proliferation, invasion and Warburg effect through β-catenin/c-Myc signaling pathway.	8
34763232	2021	HOXC6/8/10/13 predict poor prognosis and associate with immune infiltrations in glioblastoma.	5
31642514	2020	The homeobox transcription factor HOXC13 upregulates human papillomavirus E1 gene expression and contributes to viral genome maintenance.	4
32763778	2020	HOXC13-AS accelerates cell proliferation and migration in oral squamous cell carcinoma via miR-378g/HOXC13 axis.	13
31642514	2020	The 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/hoxc13-(homeobox-c13)