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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	388939
Gene name	Photoreceptor cilium actin regulator
Gene symbol	PCARE
Synonyms (NCBI Gene)	C2orf71RP54
Chromosome	2
Chromosome location	2p23.2
Summary	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

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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

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

487

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs794728002, rs753619551, rs866543181, rs1667476173, rs1667517587	RCV001257874 RCV001257857 RCV001257876 RCV001257875 RCV001257856
Cone-rod dystrophy	Pathogenic	rs1572829866, rs1667508280	RCV002267749 RCV001199489
Cone-rod dystrophy 23	Pathogenic	rs2465274081, rs1667508280	RCV003152332 RCV003227888
PCARE-related disorder	Likely pathogenic; Pathogenic	rs367658438, rs1196801124, rs1667476173	RCV003935321 RCV004753204 RCV003953613
PCARE-related retinopathy	Pathogenic	rs1572829866	RCV003225956
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1397537890, rs794728002, rs527236056, rs2465275931, rs2465273048, rs1572825920, rs776132505, rs2465276054, rs2465279042, rs2465279561, rs371669661, rs2465279577, rs768682214, rs367658438, rs750987123 View all (15 more)	RCV004815446 RCV004814785 RCV003888549 RCV004818398 RCV003890678 RCV003890679 RCV003890680 RCV003890691 RCV003890699 RCV003890701 RCV003890702 RCV003890703 RCV003890704 RCV001074819 RCV000504934 RCV004818136 RCV001074821 RCV001073512 RCV001075202 RCV001073662 RCV001075744 RCV001073660 RCV001074986 RCV001075287 RCV001073799 RCV001074763 RCV001074354 RCV004813734 RCV004794496 RCV004814020
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs1397537890, rs763206332, rs267606691, rs794728002, rs527236055, rs527236056, rs863223344, rs2465275931, rs367658438, rs1572826522, rs1572827477, rs369937337, rs774215025, rs1572829514, rs1558490060 View all (3 more)	RCV001724301 RCV001724799 RCV001002905 RCV001002902 RCV000132606 RCV000132607 RCV000201436 RCV005419676 RCV000504713 RCV000787634 RCV001199490 RCV001002900 RCV001002901 RCV001002903 RCV001724232 RCV001249866 RCV001249864 RCV001249865
Retinitis pigmentosa 54	Pathogenic; Likely pathogenic	rs1397537890, rs1238711555, rs2148416150, rs2148416171, rs1439930038, rs2148415628, rs1412522034, rs767188967, rs2148416762, rs779886453, rs267606691, rs794728002, rs749261204, rs2465278801, rs2465275931 View all (16 more)	RCV001587369 RCV001376485 RCV001376486 RCV001376395 RCV005635149 RCV001591904 RCV001591905 RCV005868492 RCV000000121 RCV000000123 RCV000000124 RCV000000125 RCV003153170 RCV003389614 RCV005235727 RCV005254892 RCV001352960 RCV000625235 RCV000735858 RCV001593171 RCV005394617 RCV001029855 RCV001542737 RCV002225125 RCV002267629 RCV001809977 RCV001283800 RCV001269025 RCV001587286 RCV001587297 RCV003989667
Retinitis pigmentosa with macular involvement	Likely pathogenic; Pathogenic	rs748396645	RCV005418962
See cases	Likely pathogenic; Pathogenic	rs367658438	RCV001197047
Stargardt disease	Pathogenic	rs779886453	RCV002466389

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Uncertain significance	rs886055920	RCV005896160
maculopathy	Uncertain significance	rs1396413765	RCV001002904
Malignant tumor of esophagus	Uncertain significance	rs886055920	RCV005896161
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs370203821, rs184644658	RCV004816576 RCV004818074
Retinitis Pigmentosa, Recessive	Uncertain significance	rs200635896, rs886055919, rs140084891, rs71420214	RCV000293593 RCV000364068 RCV000311674 RCV000369752

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)