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

116

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Anophthalmia-microphthalmia syndrome	Uncertain significance; Likely benign	rs886054023, rs886054020, rs149204757, rs543386393	RCV000375438 RCV000308953 RCV000363673 RCV000323855 RCV000268774
RAX-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs770291686, rs536765190, rs771409497, rs200647674	RCV003899552 RCV003915689 RCV003960578 RCV003930676

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

RAX (retina and anterior neural fold homeobox)