RAX (retina and anterior neural fold homeobox)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
30062
Gene name Gene Name - the full gene name approved by the HGNC.
Retina and anterior neural fold homeobox
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAX
Synonyms (NCBI Gene) Gene synonyms aliases
MCOP3, MCOPS16, RAX1, RX
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs104894663 G>A Pathogenic Stop gained, coding sequence variant
rs121909127 C>T Pathogenic Missense variant, coding sequence variant
rs121909128 G>C Pathogenic Stop gained, coding sequence variant
rs536765190 C>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs1555667735 GC>T Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(92)
miRTarBase ID miRNA Experiments Reference
MIRT007011 hsa-miR-29b-3p Luciferase reporter assay, Western blot 21897745
MIRT639785 hsa-miR-4428 HITS-CLIP 23824327
MIRT641572 hsa-miR-362-5p HITS-CLIP 23824327
MIRT641571 hsa-miR-500b-5p HITS-CLIP 23824327
MIRT639784 hsa-miR-5196-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 10625658
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601881 18662 ENSG00000134438
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y2V3
Protein name Retinal homeobox protein Rx (Retina and anterior neural fold homeobox protein)
Protein function Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 137 → 193 Homeodomain Domain
PF03826 OAR 319 → 337 OAR motif Motif
Tissue specificity TISSUE SPECIFICITY: Expressed in the developing eye and weakly expressed in the adult retina.
Sequence 
MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGA
KERDRRLGARPACPKAPEEGSEPSPPPAPAPAPEYEAPRPYCPKEPGEARPSPGLPVGPA
TGEAKLSEEEQPKKKHRRNRTTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRV
QVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSATLSPLGAGPGSGGGPAGGALP
LESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTPPPPPPPFLNSPPLGPGLQPLAPPP
PSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKEHIQAIGKPWQAL
Sequence length 346
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microphthalmia Isolated microphthalmia 3 rs104894663, rs121909127, rs1603388837, rs121909128 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-microphthalmia syndrome N/A N/A ClinVar
Coloboma coloboma N/A N/A GenCC
Isolated Microphthalmia-Anophthalmia-Coloboma isolated anophthalmia-microphthalmia syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anophthalmos Associate 18783408, 22736936
Atrophy Associate 22736936
Brain Diseases Associate 22736936
Carcinogenesis Associate 33941222
Coloboma Associate 28831107
Microphthalmos Associate 18783408
Neoplasms Associate 20233874
Neoplasms Inhibit 28924151
Retinoschisis Associate 28831107
Sclerocornea Associate 18783408