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

    Gene ID: 84839, updated on 10-Dec-2024

    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; 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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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 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)

    NEW Try the new Transcript table

    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)