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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	388939
Gene name Gene Name - the full gene name approved by the HGNC.	Photoreceptor cilium actin regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PCARE
Synonyms (NCBI Gene) Gene synonyms aliases	C2orf71, RP54
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p23.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gen

Show/Hide all(34)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149601594	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs182248363	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs184249075	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs189042259	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200367963	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200696965	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201355503	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201790782	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267606690	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs267606691	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs367658438	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs369937337	G>A	Pathogenic	Stop gained, coding sequence variant
rs527236055	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs527236056	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs750987123	C>T	Pathogenic	Coding sequence variant, stop gained
rs774215025	G>A,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs777103184	C>T	Pathogenic	Coding sequence variant, stop gained
rs779886453	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs780585710	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs794728002	AGGGCTGGCTTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223344	T>A	Pathogenic	Coding sequence variant, stop gained
rs886044002	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044003	G>A	Pathogenic	Stop gained, coding sequence variant
rs886044135	C>A	Pathogenic	Stop gained, coding sequence variant
rs1396413765	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1407602065	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553354488	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553354660	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553354826	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1572826522	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572827477	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572829010	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1572829514	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572829866	->T	Pathogenic	Coding sequence variant, stop gained

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IBA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IBA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005929	Component	Cilium	IDA	20398886
GO:0005929	Component	Cilium	IEA
GO:0007601	Process	Visual perception	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IBA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042995	Component	Cell projection	IEA
GO:0120199	Component	Cone photoreceptor outer segment	IEA
GO:1903546	Process	Protein localization to photoreceptor outer segment	IBA
GO:1903546	Process	Protein localization to photoreceptor outer segment	IEA

MIM	HGNC	e!Ensembl
613425	34383	ENSG00000179270

Protein

UniProt ID

A6NGG8

Protein name

Photoreceptor cilium actin regulator

Protein function

Plays an essential role for normal photoreceptor cell maintenance and vision.

PDB

7LXF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15449	Retinal	1 → 1264	Retinal protein	Family

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in retina. {ECO:0000269|PubMed:20398884}.

Sequence

MGCTPSHSDLVNSVAKSGIQFLKKPKAIRPGCQGGSERGSIPLLVKNSTCYDAGEGLAEE
QPSPRRNQTTAKGLCQLMGDPASGKRKDMEGLIPGTKTSSSQLNKSQSHMAKDIPFKTQG
SHGSQGADFSGDESEESSTQDTSKWKRTAKCHTSSTQSHCYQTIHPAHEPEGKVDFPEPL
VKAHQQAYTYLHSSLSKYEAILCIIHQATQTRELLQPMVSFLLLCFEEISQLLGEISKDG
EVLLQEVREDLAWPLKKREPQEQPNLLQQLLQYTVSKLQVLNGTVASLTGSFLEGSSSYL
HSTATHLENKLSTKRNVDERLLRALRQLESLASGCGDPGVQGLPLCSEDSGIGADNESVQ
SVDKLGKQTSWDLAPEPEEWKSVTSPHTEARQSGHTWQQSPFCLGSGRPQDCLLSGAPMA
KVQPRAQDEARSPCLSSTSPENITSPPLKLGTSTPCDSFGIGVSVEPHLSKTSRPMDASS
LSDSEDSSPEEEEEDKMSSMSLCAWQEKTPHSRPQSSPADRESPFQARTRRLRSLQAQEM
ILKMKESISERIKFVPVPCGHQDWSEEEEGRTVVPPRPSTVSGSRRAPERQTRSQSESCL
QSHVEDPTFQELRRVQRDLSQKLEAFYALGAKGQGQSQEQILQPRAAAVWPNGTCRVSPS
NTTSRLKASLTKNFSILPSQDKSILQKCNPHPEDEQGKAGKLPNAIPSGEVSEAAKATDW
NVRGCPTRTSVKKLIETFSPTESLRMLGDSKDAGASPCLRNCIMPPRFPKYTGLAPLYPK
PQISPASGRESLKMGIGWKPLAPIFPPLPKAEAAKSEELSCEMEGNLEHLPPPPMEVLMD
KSFASLESPESSKSTENSPKETQEPGPGEAGPTRRTWASPKLRASVSPLDLLPSKSTASL
TKPHSTGPGSGRSSCQPRKPALDLSSPPATSQSPEVKGGTWSQAEKATSLYRQPRKAIAW
HHSGPPSGQNRTSESSLARPRQSRERSPPVGRKASPTRTHWVPQADKRRRSLPSSYRPAQ
PSPSAVQTPPSPPVSPRVLSPPTTKRRTSPPHQPKLPNPPPESAPAQCKVPSPPTQHPEA
SPPFSIPSPSPPMSPSQEHKETRDSEDSQAVIAKVSGNTHSIFCPATSSLFEAKPPLSTA
HPLTPPSLPPEAGGPLGNPAECWKNSSGPWLRADSQRRAALCALNPLPFLRRTASDRQPG
GRPQPPTLDPTSTSYESQLGQNSSSEESPKKDTEPGSSPCSPELQGGTRRASPPEFCVLG
HGLQPEPRTGHIQDKSQPEAQPQQEEVS

Sequence length

1288

Interactions

View interactions

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs794728002, rs1196801124, rs753619551, rs748396645, rs527236056, rs1558490060, rs761147595, rs1182748194, rs367658438, rs866543181, rs774215025, rs1558488513, rs1667504255, rs750987123, rs762973163, rs1667513233, rs1667506537 View all (2 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa 54, retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs777103184, rs1667513233, rs1572826522, rs1572829010, rs527236055, rs1572827477, rs527236056, rs753619551, rs748396645, rs2147483647, rs369937337, rs779886453, rs772325487, rs863223344, rs1558490060 View all (8 more)	N/A
Cone-rod dystrophy	Cone-rod dystrophy 23	rs1667508280	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs1572829866, rs1667508280	N/A
Stargardt Disease	stargardt disease	rs779886453	N/A

Show/Hide Unknown Diseases (2)

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.
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cone Rod Dystrophies	Associate	21792230, 31574917, 31819343
Hypertensive Retinopathy	Associate	28763557
Macular Degeneration	Associate	28763557
Night Blindness	Associate	28763557
Retinal Degeneration	Associate	28763557
Retinal Dystrophies	Associate	24625443
Retinitis	Associate	28763557
Retinitis Pigmentosa	Associate	20398886, 21792230, 25268133, 25544989, 28763557
Retinitis Pigmentosa	Stimulate	24339724
Stargardt Disease	Associate	25544989
Vision Disorders	Inhibit	20398886

PCARE (photoreceptor cilium actin regulator)