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

Gene ID: 84839, updated on 9-Jun-2025
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; AllianceGenome:HGNC:18286
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; RP95; 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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See RAX2 in Genome Data Viewer
Location:
19p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3769089..3772228, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3748340..3751481, complement)
RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr19:3761575-3761892 Neighboring gene uncharacterized LOC105372248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3770519-3771018 Neighboring gene mitochondrial ribosomal protein L54 Neighboring gene MPRA-validated peak3254 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3784812-3785807 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3787338-3787536 Neighboring gene MPRA-validated peak3255 silencer Neighboring gene megakaryocyte-associated tyrosine kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3809153-3809388 Neighboring gene zinc finger RNA binding protein 2 Neighboring gene Sharpr-MPRA regulatory region 15218 Neighboring gene MPRA-validated peak3257 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3831251-3831840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3843229-3843728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3849523-3850024

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Clone Names

  • MGC15631

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
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

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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
    Consensus CDS
    CCDS12112.1
    UniProtKB/Swiss-Prot
    Q96IS3
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    3748340..3751481 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)