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

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

Show/Hide all (13)

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

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy	Pathogenic	rs1572829866, rs1667508280	RCV002267749 RCV001199489	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 23	Pathogenic	rs2465274081, rs1667508280	RCV003152332 RCV003227888	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PCARE-related disorder	Likely pathogenic; Pathogenic	rs367658438, rs1196801124, rs1667476173	RCV003935321 RCV004753204 RCV003953613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PCARE-related retinopathy	Pathogenic	rs1572829866	RCV003225956	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa with macular involvement	Likely pathogenic; Pathogenic	rs748396645	RCV005418962	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stargardt disease	Pathogenic	rs779886453	RCV002466389	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
maculopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	29518546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	29946172		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	29946172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28763557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29518546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Degeneration	Retinal degeneration	Pubtator	28763557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28763557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	20398886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	20398884, 20398886, 20811058, 25544989		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	20398886, 21792230, 25268133, 25544989, 28763557	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	21412943, 26497376		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	24339724	Stimulate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 54	Retinitis Pigmentosa	UNIPROT_DG	20398884, 20398886, 21412943		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 54	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 54	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 54	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	29946172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	24780881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	25544989	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher Syndrome	Usher Syndrome	BEFREE	24780881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	20398886	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

PCARE (photoreceptor cilium actin regulator)