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

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; 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: all
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Genomic context

Location:: 19p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3769089..3772228, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3748340..3751481, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3769087..3772226, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A frameshift heterozygous mutation in RAX2 inherited in an autosomal dominant fashion was associated with mixed cone and rod dysfunction.
Title: Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Age related macular degeneration 6 MedGen: C3151060 OMIM: 613757 GeneReviews: Not available	Compare labs
Cone-rod dystrophy 11 MedGen: C1835865 OMIM: 610381 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the RAX2 gene: The RAX2 gene is conserved in chimpanzee, Rhesus monkey, dog, and cow.
Orthologs from Annotation Pipeline: 237 organisms have orthologs with human gene RAX2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

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

General protein information

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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

NG_011565.1 RefSeqGene

Range

4994..8133

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1200

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC005777

UniProtKB/Swiss-Prot

Q96IS3

Related

ENSP00000450456.3, ENST00000555633.3

Conserved Domains (1) summary

pfam00046
Location:31 → 84

Homeobox; Homeobox domain
NM_032753.4 → NP_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:31 → 84

Homeobox; Homeobox domain