HOXA2 (homeobox A2)

2014-11-01  

Identity

HGNC
HOXA2
LOCATION
7p15.2
LOCUSID
3199
ALIAS
HOX1K,MCOHI

Other Information

Locus ID:

NCBI: 3199
MIM: 604685
HGNC: 5103
Ensembl: ENSG00000105996

Variants:

dbSNP: 3199
ClinVar: 3199
TCGA: ENSG00000105996
COSMIC: HOXA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105996ENST00000222718O43364

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

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

References

Pubmed IDYearTitleCitations
183945792008A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.26
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
199380812009Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.14
242438172013Aberrantly hypermethylated Homeobox A2 derepresses metalloproteinase-9 through TBP and promotes invasion in Nasopharyngeal carcinoma.12
237759762013HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.11
205425772010Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.7
275035142017Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology.5
281095042017Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia.2
264964262015Molecular Analysis of the HOXA2-Dependent Degradation of RCHY1.1
275262422016Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.0

Citation

Dessen P

HOXA2 (homeobox A2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64387/hoxa2