RAX2

GENE INFORMATION

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Gene name

RAX2 (HGNC Symbol)

Synonyms

ARMD6, CORD11, MGC15631, RAXL1

Description

Retina and anterior neural fold homeobox 2 (HGNC Symbol)

Entrez gene summary

This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. [provided by RefSeq, Jul 2008]

Chromosome

19

Cytoband

p13.3

Chromosome location (bp)

3769089 - 3772221

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000173976 (version 78.38)

Entrez gene

84839

UniProt

Q96IS3 (UniProt - Evidence at protein level)

neXtProt

NX_Q96IS3

Antibodypedia

RAX2 antibodies
 

PROTEIN VIEW

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RAX2-001
 
RAX2-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RAX2-001 ENSP00000450456
ENST00000555633
Q96IS3
Show all »
Show » Show » 184 20.1 No 0
RAX2-003 ENSP00000450687
ENST00000555978
Q96IS3
Show all »
Show » Show » 184 20.1 No 0