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	84839
Gene name	Retina and anterior neural fold homeobox 2
Gene symbol	RAX2
Synonyms (NCBI Gene)	ARMD6CORD11QRXRAXL1RP95
Chromosome	19
Chromosome location	19p13.3
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 epit

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908280	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs121908281	C>G	Pathogenic	Coding sequence variant, missense variant
rs141804618	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398124431	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs549932754	->GGGCCC	Pathogenic	Inframe insertion, coding sequence variant
rs886041039	GCCATCTGCGA>-	Pathogenic	Frameshift variant, coding sequence variant

131

Show/Hide all (131)

miRTarBase ID	miRNA	Experiments
MIRT1293292	hsa-miR-122	CLIP-seq
MIRT1293293	hsa-miR-1267	CLIP-seq
MIRT1293294	hsa-miR-149	CLIP-seq
MIRT1293295	hsa-miR-1976	CLIP-seq
MIRT1293296	hsa-miR-2110	CLIP-seq
MIRT1293297	hsa-miR-2278	CLIP-seq
MIRT1293298	hsa-miR-3064-5p	CLIP-seq
MIRT1293299	hsa-miR-3135b	CLIP-seq
MIRT1293300	hsa-miR-3144-5p	CLIP-seq
MIRT1293301	hsa-miR-3150a-3p	CLIP-seq
MIRT1293302	hsa-miR-3175	CLIP-seq
MIRT1293303	hsa-miR-3191	CLIP-seq
MIRT1293304	hsa-miR-3194-5p	CLIP-seq
MIRT1293305	hsa-miR-3649	CLIP-seq
MIRT1293306	hsa-miR-3652	CLIP-seq
MIRT1293307	hsa-miR-3661	CLIP-seq
MIRT1293308	hsa-miR-370	CLIP-seq
MIRT1293309	hsa-miR-3940-5p	CLIP-seq
MIRT1293310	hsa-miR-4260	CLIP-seq
MIRT1293311	hsa-miR-4313	CLIP-seq
MIRT1293312	hsa-miR-4430	CLIP-seq
MIRT1293313	hsa-miR-4438	CLIP-seq
MIRT1293314	hsa-miR-4468	CLIP-seq
MIRT1293315	hsa-miR-4505	CLIP-seq
MIRT1293316	hsa-miR-4507	CLIP-seq
MIRT1293317	hsa-miR-4520a-3p	CLIP-seq
MIRT1293318	hsa-miR-4520b-3p	CLIP-seq
MIRT1293319	hsa-miR-4640-5p	CLIP-seq
MIRT1293320	hsa-miR-4652-5p	CLIP-seq
MIRT1293321	hsa-miR-4667-3p	CLIP-seq
MIRT1293322	hsa-miR-4667-5p	CLIP-seq
MIRT1293323	hsa-miR-4684-3p	CLIP-seq
MIRT1293324	hsa-miR-4700-5p	CLIP-seq
MIRT1293325	hsa-miR-4726-5p	CLIP-seq
MIRT1293326	hsa-miR-4793-3p	CLIP-seq
MIRT1293327	hsa-miR-4794	CLIP-seq
MIRT1293328	hsa-miR-483-5p	CLIP-seq
MIRT1293329	hsa-miR-492	CLIP-seq
MIRT1293330	hsa-miR-631	CLIP-seq
MIRT1293331	hsa-miR-760	CLIP-seq
MIRT1293332	hsa-miR-939	CLIP-seq
MIRT2087125	hsa-miR-103a	CLIP-seq
MIRT2087126	hsa-miR-107	CLIP-seq
MIRT2087127	hsa-miR-1184	CLIP-seq
MIRT1293292	hsa-miR-122	CLIP-seq
MIRT2087128	hsa-miR-1224-3p	CLIP-seq
MIRT2087129	hsa-miR-1226	CLIP-seq
MIRT2087130	hsa-miR-1260	CLIP-seq
MIRT2087131	hsa-miR-1260b	CLIP-seq
MIRT2087132	hsa-miR-1280	CLIP-seq
MIRT2087133	hsa-miR-150	CLIP-seq
MIRT1293299	hsa-miR-3135b	CLIP-seq
MIRT2087134	hsa-miR-330-3p	CLIP-seq
MIRT1293306	hsa-miR-3652	CLIP-seq
MIRT2087135	hsa-miR-3663-5p	CLIP-seq
MIRT2087136	hsa-miR-3714	CLIP-seq
MIRT2087137	hsa-miR-3944-5p	CLIP-seq
MIRT2087138	hsa-miR-4302	CLIP-seq
MIRT2087139	hsa-miR-4314	CLIP-seq
MIRT1293312	hsa-miR-4430	CLIP-seq
MIRT1293313	hsa-miR-4438	CLIP-seq
MIRT2087140	hsa-miR-4519	CLIP-seq
MIRT2087141	hsa-miR-4660	CLIP-seq
MIRT1293323	hsa-miR-4684-3p	CLIP-seq
MIRT2087142	hsa-miR-4766-5p	CLIP-seq
MIRT2087143	hsa-miR-488	CLIP-seq
MIRT2087144	hsa-miR-5095	CLIP-seq
MIRT2087145	hsa-miR-513c	CLIP-seq
MIRT2087146	hsa-miR-514b-5p	CLIP-seq
MIRT2087147	hsa-miR-532-3p	CLIP-seq
MIRT2087148	hsa-miR-548an	CLIP-seq
MIRT2087149	hsa-miR-592	CLIP-seq
MIRT2087150	hsa-miR-597	CLIP-seq
MIRT2087151	hsa-miR-634	CLIP-seq
MIRT2087125	hsa-miR-103a	CLIP-seq
MIRT2087126	hsa-miR-107	CLIP-seq
MIRT1293292	hsa-miR-122	CLIP-seq
MIRT2087128	hsa-miR-1224-3p	CLIP-seq
MIRT2311965	hsa-miR-1225-5p	CLIP-seq
MIRT2087130	hsa-miR-1260	CLIP-seq
MIRT2087131	hsa-miR-1260b	CLIP-seq
MIRT2311966	hsa-miR-1273f	CLIP-seq
MIRT2087132	hsa-miR-1280	CLIP-seq
MIRT2311967	hsa-miR-1294	CLIP-seq
MIRT2087133	hsa-miR-150	CLIP-seq
MIRT2311968	hsa-miR-151-5p	CLIP-seq
MIRT2311969	hsa-miR-151b	CLIP-seq
MIRT2311970	hsa-miR-1538	CLIP-seq
MIRT2311971	hsa-miR-193a-5p	CLIP-seq
MIRT1293295	hsa-miR-1976	CLIP-seq
MIRT2311972	hsa-miR-3132	CLIP-seq
MIRT1293299	hsa-miR-3135b	CLIP-seq
MIRT2311973	hsa-miR-3141	CLIP-seq
MIRT1293300	hsa-miR-3144-5p	CLIP-seq
MIRT1293303	hsa-miR-3191	CLIP-seq
MIRT1293304	hsa-miR-3194-5p	CLIP-seq
MIRT2087134	hsa-miR-330-3p	CLIP-seq
MIRT2311974	hsa-miR-3650	CLIP-seq
MIRT1293306	hsa-miR-3652	CLIP-seq
MIRT1293308	hsa-miR-370	CLIP-seq
MIRT2087137	hsa-miR-3944-5p	CLIP-seq
MIRT2087138	hsa-miR-4302	CLIP-seq
MIRT2311975	hsa-miR-431	CLIP-seq
MIRT1293311	hsa-miR-4313	CLIP-seq
MIRT2311976	hsa-miR-4316	CLIP-seq
MIRT1293312	hsa-miR-4430	CLIP-seq
MIRT1293313	hsa-miR-4438	CLIP-seq
MIRT2311977	hsa-miR-4515	CLIP-seq
MIRT2087140	hsa-miR-4519	CLIP-seq
MIRT2311978	hsa-miR-4632	CLIP-seq
MIRT1293319	hsa-miR-4640-5p	CLIP-seq
MIRT1293320	hsa-miR-4652-5p	CLIP-seq
MIRT1293321	hsa-miR-4667-3p	CLIP-seq
MIRT1293323	hsa-miR-4684-3p	CLIP-seq
MIRT1293325	hsa-miR-4726-5p	CLIP-seq
MIRT2311979	hsa-miR-4728-5p	CLIP-seq
MIRT2311980	hsa-miR-4745-3p	CLIP-seq
MIRT2311981	hsa-miR-4779	CLIP-seq
MIRT1293326	hsa-miR-4793-3p	CLIP-seq
MIRT2087147	hsa-miR-532-3p	CLIP-seq
MIRT2087149	hsa-miR-592	CLIP-seq
MIRT2087150	hsa-miR-597	CLIP-seq
MIRT2311982	hsa-miR-615-5p	CLIP-seq
MIRT2311983	hsa-miR-635	CLIP-seq
MIRT1293295	hsa-miR-1976	CLIP-seq
MIRT1293304	hsa-miR-3194-5p	CLIP-seq
MIRT1293308	hsa-miR-370	CLIP-seq
MIRT1293319	hsa-miR-4640-5p	CLIP-seq
MIRT1293321	hsa-miR-4667-3p	CLIP-seq
MIRT1293325	hsa-miR-4726-5p	CLIP-seq
MIRT1293326	hsa-miR-4793-3p	CLIP-seq

Show/Hide all (14)

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	15028672
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	15028672
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:0007601	Process	Visual perception	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15028672
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA

MIM	HGNC	e!Ensembl
610362	18286	ENSG00000173976

Q96IS3

Protein name

Retina and anterior neural fold homeobox protein 2 (Q50-type retinal homeobox protein) (Retina and anterior neural fold homeobox-like protein 1)

Protein function

May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	28 → 84	Homeodomain	Domain

Sequence

MFLSPGEGPATEGGGLGPGEEAPKKKHRRNRTTFTTYQLHQLERAFEASHYPDVYSREEL
AAKVHLPEVRVQVWFQNRRAKWRRQERLESGSGAVAAPRLPEAPALPFARPPAMSLPLEP
WLGPGPPAVPGLPRLLGPGPGLQASFGPHAFAPTFADGFALEEASLRLLAKEHAQALDRA
WPPA

Sequence length

184

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod dystrophy 11	Pathogenic; Likely pathogenic	rs121908281, rs886041039, rs2512317329	RCV000001300 RCV000190344 RCV004555449	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs886041039, rs76076446	RCV001074414 RCV001073633	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 95	Pathogenic	rs2037262817	RCV002294542	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
Age related macular degeneration 6	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy, Dominant	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAX2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	ClinVar, Disgenet ClinVar, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 11	Cone-rod dystrophy	UNIPROT_DG	15028672		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 11	Cone-rod dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 11	Cone-rod dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 11	Cone-rod dystrophy	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	15028672, 25789692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25789692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration, Age-Related, 6	Age-related macular degeneration	UNIPROT_DG	15028672		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 6	Age-related macular degeneration	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 6	Age-related macular degeneration	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 6	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29797594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30377383, 30607024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	30377383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	25789692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	30377383, 38507880	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RAX2 (retina and anterior neural fold homeobox 2)