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

Gene ID: 30062, updated on 18-Aug-2020

Summary

Official Symbol
RAXprovided by HGNC
Official Full Name
retina and anterior neural fold homeoboxprovided by HGNC
Primary source
HGNC:HGNC:18662
See related
Ensembl:ENSG00000134438 MIM:601881
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
RX; MCOP3
Summary
This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See RAX in Genome Data Viewer
Location:
18q21.32
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (59267038..59273454, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56934267..56940625, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene signal recognition particle 19kDa pseudogene Neighboring gene gastrin releasing peptide Neighboring gene complexin 4 Neighboring gene lectin, mannose binding 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
hypothalamus development IEA
Inferred from Electronic Annotation
more info
 
limb development IEA
Inferred from Electronic Annotation
more info
 
pattern specification process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
retinal homeobox protein Rx
Names
retina and anterior neural fold homeobox protein

NCBI Reference Sequences (RefSeq)

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_013031.1 RefSeqGene

    Range
    4940..11356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013435.3NP_038463.2  retinal homeobox protein Rx

    See identical proteins and their annotated locations for NP_038463.2

    Status: REVIEWED

    Source sequence(s)
    AC067859, AF115392
    Consensus CDS
    CCDS11972.1
    UniProtKB/Swiss-Prot
    Q9Y2V3
    Related
    ENSP00000334813.3, ENST00000334889.4
    Conserved Domains (2) summary
    pfam00046
    Location:140192
    Homeobox; Homeobox domain
    pfam03826
    Location:319335
    OAR; OAR domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    59267038..59273454 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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