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RAX2 retina and anterior neural fold homeobox 2 [ Homo sapiens (human) ]

Gene ID: 84839, updated on 11-Jun-2021

Summary

Official Symbol
RAX2provided by HGNC
Official Full Name
retina and anterior neural fold homeobox 2provided by HGNC
Primary source
HGNC:HGNC:18286
See related
Ensembl:ENSG00000173976 MIM:610362
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
QRX; ARMD6; RAXL1; CORD11
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See RAX2 in Genome Data Viewer
Location:
19p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (3769089..3772228, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3769087..3772226, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372248 Neighboring gene mitochondrial ribosomal protein L54 Neighboring gene megakaryocyte-associated tyrosine kinase Neighboring gene zinc finger RNA binding protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC15631

General protein information

Preferred Names
retina and anterior neural fold homeobox protein 2
Names
Q50-type retinal homeobox protein
retina and anterior neural fold homeobox like 1
retina and anterior neural fold homeobox-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011565.1 RefSeqGene

    Range
    4994..8133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1200

mRNA and Protein(s)

  1. NM_001319074.4NP_001306003.2  retina and anterior neural fold homeobox protein 2

    Status: REVIEWED

    Source sequence(s)
    AC005777
    Related
    ENSP00000450456.3, ENST00000555633.3
    Conserved Domains (1) summary
    pfam00046
    Location:3184
    Homeobox; Homeobox domain
  2. NM_032753.4NP_116142.1  retina and anterior neural fold homeobox protein 2

    See identical proteins and their annotated locations for NP_116142.1

    Status: REVIEWED

    Source sequence(s)
    AC005777, AY211277, BC018709
    Consensus CDS
    CCDS12112.1
    UniProtKB/Swiss-Prot
    Q96IS3
    Related
    ENSP00000450687.2, ENST00000555978.5
    Conserved Domains (1) summary
    pfam00046
    Location:3184
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    3769089..3772228 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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