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
34348662	2021	Construction and characterization of EGFP reporter plasmid harboring putative human RAX promoter for in vitro monitoring of retinal progenitor cells identity.	1
34348662	2021	Construction and characterization of EGFP reporter plasmid harboring putative human RAX promoter for in vitro monitoring of retinal progenitor cells identity.	1
28831107	2017	Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.	8
28831107	2017	Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.	8
22558175	2012	Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD.	19
22736936	2012	RAX and anophthalmia in humans: evidence of brain anomalies.	14
22558175	2012	Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD.	19
22736936	2012	RAX and anophthalmia in humans: evidence of brain anomalies.	14
20494911	2010	Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.	38
20494911	2010	Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.	38
19158959	2009	Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.	9
19397404	2009	Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.	1
20057906	2009	Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.	13
19158959	2009	Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.	9
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