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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 nameGene Name - the full gene name approved by the HGNC.
Retina and anterior neural fold homeobox
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RAX
SynonymsGene synonyms aliases
MCOP3, MCOPS16, RAX1, RX
ChromosomeChromosome number
18
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.32
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
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 21873635
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDsOther 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
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
Sequence 
MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGA
KERDRRLGARPACPKAPEEGSEPSPPPAPAPAPEYEAPRPYCPKEPGEARPSPGLPVGPA
TGEAKLSEEEQPKKKHRRNRTTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRV
QVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSATLSPLGAGPGSGGGPAGGALP
LESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTPPPPPPPFLNSPPLGPGLQPLAPPP
PSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKEHIQAIGKPWQAL
Sequence length 346
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 16778180
Microphthalmia MICROPHTHALMIA, ISOLATED 1, Microphthalmia, Isolated 3 rs587776595, rs121908189, rs587776596, rs104894663, rs121909127, rs1603388837, rs121909128, rs121912543, rs121912545, rs730882064, rs387907095, rs387907096, rs397514652, rs397514653, rs78931658, rs730882141, rs150232843, rs730882143, rs730882158, rs730882159, rs730882160, rs730882161, rs730882162, rs786205471, rs786205472, rs797045054, rs869025268, rs755799430, rs1555037395, rs770341402, rs1245503127, rs749156010, rs376898612, rs750894392, rs1359404443, rs1422497202, rs374823079, rs1565295426, rs145719998, rs1166512859, rs752288097, rs1226217440, rs1243587288 24033328, 24033328, 14662654, 18783408
Microphthalmos Microphthalmos, Microphthalmos, Autosomal Recessive rs794726862, rs1329285216 24033328
Syndromic microphthalmia Anophthalmos rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937 15789424
Unknown
Disease name Disease term dbSNP ID References
Congenital ankyloblepharon Congenital ankyloblepharon
Isolated microphthalmia-anophthalmia-coloboma Isolated microphthalmia-anophthalmia-coloboma
Sclerocornea Sclerocornea

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