RAX2

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Description

Retina and anterior neural fold homeobox 2

Tissue specificity

Tissue enriched (retina)

Subcell location

Nucleoplasm, Nuclear speckles, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

19 (3769089 - 3772228)

Ensembl ID

ENSG00000173976  (ver. 103.38)

Orthologs

-

UniProt

Q96IS3

neXtProt

NX_Q96IS3

Human splice variants

Protein structure