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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23418
Gene name Gene Name - the full gene name approved by the HGNC.	Crumbs cell polarity complex component 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CRB1
Synonyms (NCBI Gene) Gene synonyms aliases	CRB1-A, CRB1-B, CRB1-C, LCA8, RP12
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q31.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaf

Show/Hide all(104)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939720	C>A,G,T	Pathogenic, not-provided	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs35193230	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs62635649	T>A,G	Not-provided, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62635654	C>G,T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62635655	G>A,C,T	Pathogenic, not-provided	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs62635656	T>C	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62635659	T>C,G	Not-provided, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62636260	->TG	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant
rs62636264	T>C	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs62636267	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62636270	GCTG>-	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs62636271	T>C	Not-provided, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62636273	T>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained, intron variant, non coding transcript variant
rs62636275	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62636283	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs62636291	T>A,C	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62645747	T>A,C	Not-provided, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62645748	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62645749	T>C	Likely-benign, likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs62645752	ATAGGAA>-	Not-provided, likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs62645754	G>A,C	Not-provided, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs114342808	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs114630940	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs115352681	C>A,T	Likely-pathogenic, pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs116471343	C>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs137853136	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs137853137	A>T	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs137853138	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs142857810	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs143511261	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained, non coding transcript variant
rs144436610	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs145141811	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, non coding transcript variant, missense variant
rs145282040	A>G,T	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs150412614	C>A,G,T	Pathogenic, likely-benign	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, intron variant, stop gained
rs267598278	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs281865175	CAACTCAGGG>-	Pathogenic, not-provided	3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs369775002	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs398124615	AATTGATGG>-,AATTGATGGAATTGATGG	Pathogenic, likely-pathogenic, likely-benign	Genic upstream transcript variant, non coding transcript variant, inframe insertion, coding sequence variant, 5 prime UTR variant, inframe deletion
rs564754426	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained, missense variant
rs574162883	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs587783015	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs745348555	GGTGGAT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs745422941	A>-	Pathogenic	Frameshift variant, non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant
rs752212470	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs757740068	G>A,T	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant, missense variant
rs759662695	C>A	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs760544654	C>G,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs763324776	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant
rs764256655	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs768905244	G>A,T	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs773233587	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs776591659	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs776788104	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs778627080	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs781705903	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs786205450	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786205610	CAAACTC>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs794727980	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs863223341	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs863223342	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs863224862	G>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs878853364	->CTTA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs878853366	->A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant, non coding transcript variant
rs878853369	G>T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs878853370	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs878853371	C>T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant
rs886039871	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886043587	GC>A	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs890453675	G>A	Pathogenic	Splice donor variant, intron variant, non coding transcript variant
rs910489135	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1057520152	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs1085307972	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs1201356843	C>A,T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs1237424465	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs1266363944	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1271816211	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1355198242	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1450635782	G>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1553249226	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553260321	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1553260517	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553261468	->C	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1553263218	->G	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1558057153	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs1558127317	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1571523319	->ACTT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1571523755	C>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs1571524102	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1571524269	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1571525145	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1571525390	T>G	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1571540037	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1571540258	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1571544281	AACCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1571544334	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1571557864	TG>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained, inframe indel
rs1571572235	TGTGTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant, intron variant, non coding transcript variant
rs1571848166	TT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1571848659	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1571848688	AGAT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1571848744	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1571848855	G>T	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1571878277	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1571897130	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant

Show/Hide all(49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022890	hsa-miR-124-3p	Microarray	18668037
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456383	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT456382	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT456381	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT456380	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT456379	hsa-miR-4477b	PAR-CLIP	23592263
MIRT456378	hsa-miR-7856-5p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456383	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT456382	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT456381	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT456380	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT456379	hsa-miR-4477b	PAR-CLIP	23592263
MIRT456378	hsa-miR-7856-5p	PAR-CLIP	23592263
MIRT908156	hsa-miR-181a	CLIP-seq
MIRT908157	hsa-miR-181b	CLIP-seq
MIRT908158	hsa-miR-181c	CLIP-seq
MIRT908159	hsa-miR-181d	CLIP-seq
MIRT908160	hsa-miR-23a	CLIP-seq
MIRT908161	hsa-miR-23b	CLIP-seq
MIRT908162	hsa-miR-23c	CLIP-seq
MIRT908163	hsa-miR-4262	CLIP-seq
MIRT908164	hsa-miR-561	CLIP-seq
MIRT1969221	hsa-miR-486-5p	CLIP-seq
MIRT2205202	hsa-miR-3074-5p	CLIP-seq
MIRT2205203	hsa-miR-3143	CLIP-seq
MIRT2205204	hsa-miR-3678-3p	CLIP-seq
MIRT2205205	hsa-miR-4423-5p	CLIP-seq
MIRT2205206	hsa-miR-4659a-5p	CLIP-seq
MIRT2205207	hsa-miR-4659b-5p	CLIP-seq
MIRT2205208	hsa-miR-4703-3p	CLIP-seq
MIRT2205209	hsa-miR-4716-5p	CLIP-seq
MIRT2205210	hsa-miR-4776-3p	CLIP-seq
MIRT1969221	hsa-miR-486-5p	CLIP-seq
MIRT2205211	hsa-miR-543	CLIP-seq
MIRT2205212	hsa-miR-587	CLIP-seq
MIRT2205205	hsa-miR-4423-5p	CLIP-seq
MIRT2205206	hsa-miR-4659a-5p	CLIP-seq
MIRT2205207	hsa-miR-4659b-5p	CLIP-seq
MIRT2205210	hsa-miR-4776-3p	CLIP-seq
MIRT2205205	hsa-miR-4423-5p	CLIP-seq
MIRT2205206	hsa-miR-4659a-5p	CLIP-seq
MIRT2205207	hsa-miR-4659b-5p	CLIP-seq
MIRT2205210	hsa-miR-4776-3p	CLIP-seq

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11927608, 15914641, 17920587, 33758649
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IDA	15914641
GO:0005912	Component	Adherens junction	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	TAS	10508521
GO:0007267	Process	Cell-cell signaling	TAS	10508521
GO:0007601	Process	Visual perception	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	NAS	28424578
GO:0023052	Process	Signaling	IEA
GO:0032991	Component	Protein-containing complex	IBA
GO:0032991	Component	Protein-containing complex	IDA	15914641
GO:0032991	Component	Protein-containing complex	IEA
GO:0035003	Component	Subapical complex	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043296	Component	Apical junction complex	IEA
GO:0043296	Component	Apical junction complex	NAS	28424578
GO:0045177	Component	Apical part of cell	IEA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	28424578
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0060060	Process	Post-embryonic retina morphogenesis in camera-type eye	IEA
GO:0061024	Process	Membrane organization	IEA
GO:0061159	Process	Establishment of bipolar cell polarity involved in cell morphogenesis	IEA
GO:0071482	Process	Cellular response to light stimulus	IEA
GO:0097386	Component	Glial cell projection	IEA

MIM	HGNC	e!Ensembl
604210	2343	ENSG00000134376

Protein

UniProt ID

P82279

Protein name

Protein crumbs homolog 1

Protein function

Plays a role in photoreceptor morphogenesis in the retina (By similarity). May maintain cell polarization and adhesion (By similarity).

PDB

4UU5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00008	EGF	74 → 105	EGF-like domain	Domain
PF12661	hEGF	119 → 140	Human growth factor-like EGF	Domain
PF00008	EGF	152 → 182	EGF-like domain	Domain
PF00008	EGF	190 → 220	EGF-like domain	Domain
PF12661	hEGF	233 → 254	Human growth factor-like EGF	Domain
PF00008	EGF	266 → 297	EGF-like domain	Domain
PF00008	EGF	305 → 335	EGF-like domain	Domain
PF00008	EGF	343 → 393	EGF-like domain	Domain
PF00008	EGF	401 → 434	EGF-like domain	Domain
PF00008	EGF	445 → 479	EGF-like domain	Domain
PF02210	Laminin_G_2	514 → 651	Laminin G domain	Domain
PF00008	EGF	676 → 706	EGF-like domain	Domain
PF02210	Laminin_G_2	743 → 860	Laminin G domain	Domain
PF00008	EGF	891 → 920	EGF-like domain	Domain
PF02210	Laminin_G_2	980 → 1105	Laminin G domain	Domain
PF00008	EGF	1143 → 1173	EGF-like domain	Domain
PF00008	EGF	1181 → 1210	EGF-like domain	Domain
PF12661	hEGF	1223 → 1240	Human growth factor-like EGF	Domain
PF00008	EGF	1301 → 1331	EGF-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye (PubMed:15914641). Expressed at the outer limiting membrane and apical to adherens junctions in the retina (PubMed:15914641). {ECO:0000269|Pu

Sequence

MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTA
NNLDKDCDNMKDPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQ
HGGICHQDPIYPVCICPAGYAGRFCEIDHDECASSPCQNGAVCQDGIDGYSCFCVPGYQG
RHCDLEVDECASDPCKNEATCLNEIGRYTCICPHNYSGVNCELEIDECWSQPCLNGATCQ
DALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDGENRYSCNCTGSGFTGTHCET
LMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQSNGECVELSSE
KQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYT
CHCPFDNLSRTFYGGRDCSDILLGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLC
EIATTLSFEGDGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLFRSNRDVFVKLELLSG
YIHLSIQVNNQSKVLLFISHNTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLE
SDQSICAFQNSFLGGLPVGMTSNGVALLNFYNMPSTPSFVGCLQDIKIDWNHITLENISS
GSSLNVKAGCVRKDWCESQPCQSRGRCINLWLSYQCDCHRPYEGPNCLREYVAGRFGQDD
STGYVIFTLDESYGDTISLSMFVRTLQPSGLLLALENSTYQYIRVWLERGRLAMLTPNSP
KLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIEKGDVIYIGGLPDKQE
TELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGG
VCHSRWDDFSCSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQ
ILFRSNGNITRELTNITFGFRTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYM
LSLTSLQSVNDGTWHEVTLSMTDPLSQTSRWQMEVDNETPFVTSTIATGSLNFLKDNTDI
YVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKPQEEQFLKISTNSVVTGCLQL
NVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGNCSDRVAAYHC
TCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCG
NEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQ
CLCDVAFAGERCEVDLADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQGTYS
PSRQEKEGSRVEMWNLMPPPAMERLI

Sequence length

1406

Interactions

View interactions

	KEGG
	Hippo signaling pathway

Show/Hide Causal Diseases (7)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Leber Congenital Amaurosis	leber congenital amaurosis 8, leber congenital amaurosis, Leber congenital amaurosis 1	rs137853137, rs1057520152, rs1571523319, rs760287363, rs776591659, rs281865175, rs369184026, rs62635649, rs1366609497, rs62636276, rs62645754, rs1167867158, rs28939720, rs115352681, rs114342808 View all (85 more)	N/A
Macular dystrophy	macular dystrophy	rs1553260321, rs62635654, rs1201356843, rs764256655, rs62636273	N/A
Pigmented Paravenous Chorioretinal Atrophy	pigmented paravenous retinochoroidal atrophy	rs757740068, rs62645747, rs767648174, rs1664671663, rs1450635782, rs150412614, rs1057520152, rs62635656, rs62636273, rs1167867158, rs28939720, rs369184026, rs114342808, rs1664325377, rs62645748 View all (13 more)	N/A
retinal dystrophy	Retinal dystrophy	rs1664325377, rs62635656, rs150412614, rs1664686689, rs866822473, rs1366609497, rs878853371, rs1426006136, rs760544654, rs28939720, rs62636291, rs1665282720, rs878853367, rs1571540258, rs1558138741 View all (43 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa, Retinitis pigmentosa 12, Autosomal recessive retinitis pigmentosa	rs1660519681, rs62645752, rs1571525390, rs62636267, rs1664290387, rs863223341, rs62636273, rs1571540258, rs145282040, rs62636291, rs1057520152, rs1664301074, rs1664325377, rs62635649, rs1167867158 View all (63 more)	N/A
Stargardt Disease	stargardt disease	rs564754426	N/A
Retinal Dystrophy	Early-onset retinal dystrophy	rs759662695, rs62636275, rs150412614	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anorexia	Anorexia nervosa	N/A	N/A	GWAS
Asthma	Asthma	N/A	N/A	GWAS
Bestrophinopathy	autosomal recessive bestrophinopathy	N/A	N/A	ClinVar
cone-rod dystrophy	Cone-rod dystrophy	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Psoriasis	Psoriasis	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Aicardi Goutieres syndrome	Associate	32996714
Alzheimer Disease	Stimulate	39922756
Amaurosis congenita of Leber type 1	Associate	36099972, 37762234, 40243434, 40408095
Anophthalmos	Associate	40141357
Asthma	Associate	20032318
Atrophy	Associate	33342761
Cataract	Associate	40141357, 40725401
Choroidal Neovascularization	Associate	40725401
Chromosome Aberrations	Associate	27258436
Ciliopathies	Associate	28800606
Cone Dystrophy	Associate	26957898, 34003923
Cone Rod Dystrophies	Associate	23379534, 26957898, 28819299, 29555955, 32931148, 37762234, 40243434, 40408095
Early Onset Glaucoma	Associate	36362148
Epiretinal Membrane	Associate	40725401
Eye Diseases Hereditary	Associate	30374144
Facial Hemiatrophy	Associate	32351147
Hypertensive Retinopathy	Associate	34003923, 37762234, 40243434, 40408095
Inflammation	Associate	37792335
Leber Congenital Amaurosis	Associate	11389483, 15024725, 16272259, 16505055, 17660513, 18055820, 18334942, 18682808, 18682814, 18936139, 19401883, 19753312, 19840725, 20683928, 21602930 View all (24 more)
Macular Degeneration	Associate	24811962, 29391521, 33342761, 33773389, 34003923, 34884448, 37762234, 40243434, 40408095
Macular Edema	Associate	40243434
Nanophthalmos 1	Associate	23077403, 33203948
Neoplasms Cystic Mucinous and Serous	Associate	34003923
Neoplastic Syndromes Hereditary	Associate	30416334
Night Blindness	Associate	33633436
Nystagmus Congenital	Associate	33342761
Nystagmus Pathologic	Associate	37804373
O'Donnell Pappas syndrome	Associate	37762234
Ocular Hypertension	Associate	40243434
Optic Disk Drusen	Associate	23077403
Patterned dystrophy of retinal pigment epithelium	Associate	11389483, 37804373
Pigmentation Disorders	Associate	33342761
Pseudoinflammatory fundus dystrophy Finnish type	Associate	16505055, 26872607
Refsum Disease Infantile	Associate	34828430, 36460718, 37792335, 39189993, 40141357
Retinal Degeneration	Associate	19401883, 34946856, 35538629
Retinal Detachment	Associate	11389483
Retinal Diseases	Associate	27690673, 29391521, 32423767, 32931148
Retinal Dystrophies	Associate	11389483, 18334942, 19401883, 23379534, 24516651, 24715753, 25133751, 26872607, 27690673, 28132693, 28819299, 30416334, 32244200, 32351147, 32641690 View all (13 more)
Retinal Perforations	Associate	40725401
Retinal Telangiectasis	Associate	11389483, 26872607
Retinitis	Associate	34884448, 35538629
Retinitis Pigmentosa	Associate	11389483, 16272259, 16505055, 16519681, 18334942, 22128245, 22876132, 23077403, 23379534, 23592920, 24715753, 26872607, 27806333, 28819299, 29391521 View all (15 more)
Retinitis Pigmentosa 12	Associate	38579141
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium	Associate	11389483
Retinoschisis of Fovea	Associate	27258436
Stargardt Disease	Associate	22863181, 23443024
Uveitis Intermediate	Associate	27690673
Vision Disorders	Associate	11389483, 17660513, 26872607, 33128952, 33342761, 40408095

CRB1 (crumbs cell polarity complex component 1)