Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	30062
Gene name	Retina and anterior neural fold homeobox
Gene symbol	RAX
Synonyms (NCBI Gene)	MCOP3MCOPS16RAX1RX
Chromosome	18
Chromosome location	18q21.32
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

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
rs1603388837	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007011	hsa-miR-29b-3p	Luciferase reporter assayWestern 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
MIRT639783	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT639782	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT639780	hsa-miR-5193	HITS-CLIP	23824327
MIRT639781	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT641569	hsa-miR-4316	HITS-CLIP	23824327
MIRT641570	hsa-miR-1294	HITS-CLIP	23824327
MIRT639779	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT639785	hsa-miR-4428	HITS-CLIP	23824327
MIRT639784	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT639783	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT639782	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT639780	hsa-miR-5193	HITS-CLIP	23824327
MIRT639781	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT639779	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT492463	hsa-miR-4695-5p	PAR-CLIP	24398324
MIRT492462	hsa-miR-4779	PAR-CLIP	24398324
MIRT500170	hsa-miR-3141	PAR-CLIP	24398324
MIRT492461	hsa-miR-4634	PAR-CLIP	24398324
MIRT492460	hsa-miR-4467	PAR-CLIP	24398324
MIRT492459	hsa-miR-4266	PAR-CLIP	24398324
MIRT492463	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT492462	hsa-miR-4779	PAR-CLIP	23592263
MIRT492461	hsa-miR-4634	PAR-CLIP	23592263
MIRT492460	hsa-miR-4467	PAR-CLIP	23592263
MIRT492459	hsa-miR-4266	PAR-CLIP	23592263
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
MIRT639783	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT639782	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT639780	hsa-miR-5193	HITS-CLIP	23824327
MIRT639781	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT641569	hsa-miR-4316	HITS-CLIP	23824327
MIRT641570	hsa-miR-1294	HITS-CLIP	23824327
MIRT639779	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT639785	hsa-miR-4428	HITS-CLIP	23824327
MIRT639784	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT639783	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT639782	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT639780	hsa-miR-5193	HITS-CLIP	23824327
MIRT639781	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT639779	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT492463	hsa-miR-4695-5p	PAR-CLIP	24398324
MIRT492462	hsa-miR-4779	PAR-CLIP	24398324
MIRT500170	hsa-miR-3141	PAR-CLIP	24398324
MIRT492461	hsa-miR-4634	PAR-CLIP	24398324
MIRT492460	hsa-miR-4467	PAR-CLIP	24398324
MIRT492459	hsa-miR-4266	PAR-CLIP	24398324
MIRT492463	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT492462	hsa-miR-4779	PAR-CLIP	23592263
MIRT492461	hsa-miR-4634	PAR-CLIP	23592263
MIRT492460	hsa-miR-4467	PAR-CLIP	23592263
MIRT492459	hsa-miR-4266	PAR-CLIP	23592263
MIRT1293333	hsa-miR-1204	CLIP-seq
MIRT1293334	hsa-miR-125a-5p	CLIP-seq
MIRT1293335	hsa-miR-125b	CLIP-seq
MIRT1293336	hsa-miR-1538	CLIP-seq
MIRT1293337	hsa-miR-3126-3p	CLIP-seq
MIRT1293338	hsa-miR-3150a-3p	CLIP-seq
MIRT1293339	hsa-miR-3175	CLIP-seq
MIRT1293340	hsa-miR-323b-5p	CLIP-seq
MIRT1293341	hsa-miR-4319	CLIP-seq
MIRT1293342	hsa-miR-4435	CLIP-seq
MIRT1293343	hsa-miR-4457	CLIP-seq
MIRT1293344	hsa-miR-4487	CLIP-seq
MIRT1293345	hsa-miR-4496	CLIP-seq
MIRT1293346	hsa-miR-4646-3p	CLIP-seq
MIRT1293347	hsa-miR-4667-5p	CLIP-seq
MIRT1293348	hsa-miR-4700-5p	CLIP-seq
MIRT1293349	hsa-miR-4728-5p	CLIP-seq
MIRT1293350	hsa-miR-4731-5p	CLIP-seq
MIRT1293351	hsa-miR-4745-3p	CLIP-seq
MIRT1293352	hsa-miR-4781-5p	CLIP-seq
MIRT1293353	hsa-miR-5096	CLIP-seq
MIRT1293354	hsa-miR-513b	CLIP-seq
MIRT1293355	hsa-miR-584	CLIP-seq
MIRT1293356	hsa-miR-637	CLIP-seq
MIRT1293357	hsa-miR-744	CLIP-seq
MIRT1293358	hsa-miR-939	CLIP-seq
MIRT2087152	hsa-miR-1178	CLIP-seq
MIRT2087153	hsa-miR-2467-5p	CLIP-seq
MIRT2087154	hsa-miR-3664-3p	CLIP-seq
MIRT2311984	hsa-miR-1182	CLIP-seq
MIRT2311985	hsa-miR-1263	CLIP-seq
MIRT2311986	hsa-miR-193a-5p	CLIP-seq
MIRT2311987	hsa-miR-3692	CLIP-seq

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	10625658
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007389	Process	Pattern specification process	IEA
GO:0007420	Process	Brain development	IEA
GO:0007601	Process	Visual perception	TAS	10625658
GO:0021854	Process	Hypothalamus development	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10625658
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0060173	Process	Limb development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601881	18662	ENSG00000134438

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Isolated microphthalmia 3	Likely pathogenic; Pathogenic	rs2511488169, rs2070316408, rs2511488658, rs104894663, rs121909127, rs1603388837, rs121909128	RCV002306285 RCV002306286 RCV002306287 RCV000008074 RCV000008075 RCV000008076 RCV000008077 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Anophthalmia-microphthalmia syndrome	Uncertain significance; Likely benign	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANOPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CYSTIC EYEBALL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 3	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 16	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS CO-OCCURRENT WITH CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAX-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anophthalmos	Syndromic microphthalmia	BEFREE	14662654, 18039390, 18783408, 19397404, 21203406, 22736936, 30811539		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	LHGDN	14662654		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	CTD_human_DG	15789424		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Anophthalmia	Pubtator	18783408, 22736936	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	22736936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	BEFREE	30811539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22736936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33941222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	BEFREE	30811539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	28831107	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	24859618, 28831107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated microphthalmia-anophthalmia-coloboma	Isolated Microphthalmia-Anophthalmia-Coloboma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	16778180		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 1	Microphthalmia	ORPHANET_DG	24033328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmia, Isolated 3	Microphthalmia	UNIPROT_DG	14662654, 24033328		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, Isolated 3	Microphthalmia	GENOMICS_ENGLAND_DG	18783408, 24033328		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, Isolated 3	Microphthalmia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, Isolated 3	Microphthalmia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	14662654, 19397404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	18783408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos co-occurrent with congenital ocular coloboma	Microphthalmos Co-Occurrent With Congenital Ocular Coloboma	BEFREE	21203406		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos, Autosomal Recessive	Microphthalmos	ORPHANET_DG	24033328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	BEFREE	28831107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	Pubtator	28831107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	BEFREE	14662654, 18783408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RAX (retina and anterior neural fold homeobox)