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

203

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod dystrophy 11	Pathogenic; Likely pathogenic	rs121908281, rs886041039, rs2512317329	RCV000001300 RCV000190344 RCV004555449
Retinal dystrophy	Likely pathogenic; Pathogenic	rs886041039, rs76076446	RCV001074414 RCV001073633
Retinitis pigmentosa 95	Pathogenic	rs2037262817	RCV002294542

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Age related macular degeneration 6	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs76076446, rs79588413, rs121908280, rs139127905, rs149918940, rs886054363, rs368356816, rs886054367, rs917546, rs886054368, rs772762463, rs776666200, rs10405125, rs917545, rs73531473 View all (52 more)	RCV000298999 RCV000326676 RCV000001299 RCV000310822 RCV000327693 RCV000335786 RCV000335277 RCV000302731 RCV000276617 RCV000291300 RCV000281166 RCV000317715 RCV000347028 RCV000364307 RCV000408221 RCV000354490 RCV000392339 RCV000389727 RCV000337272 RCV000389621 RCV000343462 RCV000318680 RCV000317343 RCV000355214 RCV000297396 RCV000324126 RCV000296470 RCV000404514 RCV000275657 RCV000377836 RCV000344384 RCV000392128 RCV000305489 RCV000310520 RCV000287121 RCV000377991 RCV000288107 RCV000269881 RCV000343220 RCV001197584 RCV001125356 RCV001126324 RCV001122651 RCV001122653 RCV001123750 RCV001123752 RCV001126410 RCV001126413 RCV001128458 RCV001128460 RCV001122760 RCV001122761 RCV001123847 RCV001123850 RCV001123852 RCV001123853 RCV001126493 RCV001126495 RCV001128559 RCV001128562 RCV001122857 RCV001122860 RCV001122862 RCV001128668 RCV001128669 RCV001122982 RCV001124049 RCV001126613
Cone-Rod Dystrophy, Dominant	Uncertain significance; Benign; Likely benign	rs886054364, rs886054365, rs138512126, rs753823753, rs143816706, rs150444854	RCV000362922 RCV000274076 RCV000367751 RCV000408235 RCV000282457 RCV000287569
Macular degeneration	Uncertain significance; Benign; Likely benign	rs773857866, rs886054364, rs886054365, rs138512126, rs753823753, rs143816706, rs150444854	RCV005626408 RCV000270424 RCV000331518 RCV000275500 RCV000294891 RCV000374667 RCV000379661
Ovarian serous cystadenocarcinoma	Benign	rs28673245	RCV005894818
RAX2-related disorder	Likely benign; Benign	rs1163670829, rs755282511, rs143887958, rs115886593, rs200711581	RCV004734207 RCV004734221 RCV004534676 RCV004532257 RCV004532218

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cone Rod Dystrophies	Associate	25789692
Genetic Diseases Inborn	Associate	30377383
Heart Diseases	Associate	25789692
Retinal Diseases	Associate	30377383
Retinal Dystrophies	Associate	25789692
Retinitis Pigmentosa	Associate	30377383, 38507880

RAX2 (retina and anterior neural fold homeobox 2)