RAX (retina and anterior neural fold homeobox)

2014-08-01 Affiliation

Identity

HGNC

RAX

LOCATION

18q21.32

LOCUSID

30062

ALIAS

MCOP3,RX

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: 30062
MIM: 601881
HGNC: 18662
Ensembl: ENSG00000134438

Variants:

dbSNP: 30062
ClinVar: 30062
TCGA: ENSG00000134438
COSMIC: RAX

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134438	ENST00000256852	Q9Y2V3
ENSG00000134438	ENST00000334889	Q9Y2V3
ENSG00000134438	ENST00000555288	G3V2C8

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
14662654	2004	Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.	74
20494911	2010	Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.	28
22558175	2012	Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD.	15
20057906	2009	Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.	11
22736936	2012	RAX and anophthalmia in humans: evidence of brain anomalies.	8
19158959	2009	Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.	7
28831107	2017	Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.	4
19397404	2009	Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.	1

Citation

Dessen P

RAX (retina and anterior neural fold homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54574/rax