• Gene id: 388939

Gene Summary

• Gene Symbol: PCARE   Gene   UCSC   Ensembl
• Aliases: C2orf71, RP54
• Gene name: photoreceptor cilium actin regulator
• Alternate names: photoreceptor cilium actin regulator, uncharacterized protein C2orf71,
• Gene location: 2p23.2 (29074522: 29061694)     Exons: 2     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 613425

Protein Summary

• Protein general information: A6NGG8  
  • Name: Photoreceptor cilium actin regulator
  • Length: 1288  
  • Mass: 139655
  • Tissue specificity: Specifically expressed in retina. {ECO
• Sequence:

  MGCTPSHSDLVNSVAKSGIQFLKKPKAIRPGCQGGSERGSIPLLVKNSTCYDAGEGLAEEQPSPRRNQTTAKGLC
  QLMGDPASGKRKDMEGLIPGTKTSSSQLNKSQSHMAKDIPFKTQGSHGSQGADFSGDESEESSTQDTSKWKRTAK
  CHTSSTQSHCYQTIHPAHEPEGKVDFPEPLVKAHQQAYTYLHSSLSKYEAILCIIHQATQTRELLQPMVSFLLLC
  FEEISQLLGEISKDGEVLLQEVREDLAWPLKKREPQEQPNLLQQLLQYTVSKLQVLNGTVASLTGSFLEGSSSYL
  HSTATHLENKLSTKRNVDERLLRALRQLESLASGCGDPGVQGLPLCSEDSGIGADNESVQSVDKLGKQTSWDLAP
  EPEEWKSVTSPHTEARQSGHTWQQSPFCLGSGRPQDCLLSGAPMAKVQPRAQDEARSPCLSSTSPENITSPPLKL
  GTSTPCDSFGIGVSVEPHLSKTSRPMDASSLSDSEDSSPEEEEEDKMSSMSLCAWQEKTPHSRPQSSPADRESPF
  QARTRRLRSLQAQEMILKMKESISERIKFVPVPCGHQDWSEEEEGRTVVPPRPSTVSGSRRAPERQTRSQSESCL
  QSHVEDPTFQELRRVQRDLSQKLEAFYALGAKGQGQSQEQILQPRAAAVWPNGTCRVSPSNTTSRLKASLTKNFS
  ILPSQDKSILQKCNPHPEDEQGKAGKLPNAIPSGEVSEAAKATDWNVRGCPTRTSVKKLIETFSPTESLRMLGDS
  KDAGASPCLRNCIMPPRFPKYTGLAPLYPKPQISPASGRESLKMGIGWKPLAPIFPPLPKAEAAKSEELSCEMEG
  NLEHLPPPPMEVLMDKSFASLESPESSKSTENSPKETQEPGPGEAGPTRRTWASPKLRASVSPLDLLPSKSTASL
  TKPHSTGPGSGRSSCQPRKPALDLSSPPATSQSPEVKGGTWSQAEKATSLYRQPRKAIAWHHSGPPSGQNRTSES
  SLARPRQSRERSPPVGRKASPTRTHWVPQADKRRRSLPSSYRPAQPSPSAVQTPPSPPVSPRVLSPPTTKRRTSP
  PHQPKLPNPPPESAPAQCKVPSPPTQHPEASPPFSIPSPSPPMSPSQEHKETRDSEDSQAVIAKVSGNTHSIFCP
  ATSSLFEAKPPLSTAHPLTPPSLPPEAGGPLGNPAECWKNSSGPWLRADSQRRAALCALNPLPFLRRTASDRQPG
  GRPQPPTLDPTSTSYESQLGQNSSSEESPKKDTEPGSSPCSPELQGGTRRASPPEFCVLGHGLQPEPRTGHIQDK
  SQPEAQPQQEEVS

• Structural information:
  • Interpro: IPR029352  
  • STRING: ENSP00000332809
• Other Databases: GeneCards:  PCARE  Malacards:  PCARE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001917	photoreceptor inner segment	IBA	cellular component
GO:0001750	photoreceptor outer segment	IBA	cellular component
GO:1903546	protein localization to photoreceptor outer segment	IBA	biological process
GO:0035845	photoreceptor cell outer segment organization	IBA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:1903546	protein localization to photoreceptor outer segment	IEA	biological process
GO:0035845	photoreceptor cell outer segment organization	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq