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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	768206
Gene name	Photoreceptor disc component
Gene symbol	PRCD
Synonyms (NCBI Gene)	RP36
Chromosome	17
Chromosome location	17q25.1
Summary	This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq,

Show/Hide all (71)

miRTarBase ID	miRNA	Experiments
MIRT1259816	hsa-miR-1184	CLIP-seq
MIRT1259817	hsa-miR-1207-3p	CLIP-seq
MIRT1259818	hsa-miR-1301	CLIP-seq
MIRT1259819	hsa-miR-2278	CLIP-seq
MIRT1259820	hsa-miR-3166	CLIP-seq
MIRT1259821	hsa-miR-342-5p	CLIP-seq
MIRT1259822	hsa-miR-361-3p	CLIP-seq
MIRT1259823	hsa-miR-3660	CLIP-seq
MIRT1259824	hsa-miR-371b-3p	CLIP-seq
MIRT1259825	hsa-miR-3929	CLIP-seq
MIRT1259826	hsa-miR-4281	CLIP-seq
MIRT1259827	hsa-miR-4311	CLIP-seq
MIRT1259828	hsa-miR-4419b	CLIP-seq
MIRT1259829	hsa-miR-4438	CLIP-seq
MIRT1259830	hsa-miR-4449	CLIP-seq
MIRT1259831	hsa-miR-4463	CLIP-seq
MIRT1259832	hsa-miR-4478	CLIP-seq
MIRT1259833	hsa-miR-4488	CLIP-seq
MIRT1259834	hsa-miR-4494	CLIP-seq
MIRT1259835	hsa-miR-4526	CLIP-seq
MIRT1259836	hsa-miR-4532	CLIP-seq
MIRT1259837	hsa-miR-4660	CLIP-seq
MIRT1259838	hsa-miR-4664-5p	CLIP-seq
MIRT1259839	hsa-miR-4697-5p	CLIP-seq
MIRT1259840	hsa-miR-4731-5p	CLIP-seq
MIRT1259841	hsa-miR-4781-5p	CLIP-seq
MIRT1259842	hsa-miR-5047	CLIP-seq
MIRT1259843	hsa-miR-532-3p	CLIP-seq
MIRT1259844	hsa-miR-637	CLIP-seq
MIRT1259845	hsa-miR-646	CLIP-seq
MIRT1920813	hsa-miR-214	CLIP-seq
MIRT1259819	hsa-miR-2278	CLIP-seq
MIRT1920814	hsa-miR-3161	CLIP-seq
MIRT1920815	hsa-miR-3619-5p	CLIP-seq
MIRT1920816	hsa-miR-4291	CLIP-seq
MIRT1920817	hsa-miR-4676-5p	CLIP-seq
MIRT1920818	hsa-miR-575	CLIP-seq
MIRT1920819	hsa-miR-761	CLIP-seq
MIRT1920820	hsa-miR-922	CLIP-seq
MIRT1920813	hsa-miR-214	CLIP-seq
MIRT1259819	hsa-miR-2278	CLIP-seq
MIRT1920814	hsa-miR-3161	CLIP-seq
MIRT1920815	hsa-miR-3619-5p	CLIP-seq
MIRT1920816	hsa-miR-4291	CLIP-seq
MIRT1920817	hsa-miR-4676-5p	CLIP-seq
MIRT1920818	hsa-miR-575	CLIP-seq
MIRT1920819	hsa-miR-761	CLIP-seq
MIRT1920820	hsa-miR-922	CLIP-seq
MIRT1920813	hsa-miR-214	CLIP-seq
MIRT1259819	hsa-miR-2278	CLIP-seq
MIRT1920814	hsa-miR-3161	CLIP-seq
MIRT1920815	hsa-miR-3619-5p	CLIP-seq
MIRT1920816	hsa-miR-4291	CLIP-seq
MIRT1920817	hsa-miR-4676-5p	CLIP-seq
MIRT1920818	hsa-miR-575	CLIP-seq
MIRT1920819	hsa-miR-761	CLIP-seq
MIRT1920820	hsa-miR-922	CLIP-seq
MIRT2076568	hsa-miR-188-3p	CLIP-seq
MIRT1259843	hsa-miR-532-3p	CLIP-seq
MIRT2303156	hsa-miR-1205	CLIP-seq
MIRT2303157	hsa-miR-1285	CLIP-seq
MIRT2303158	hsa-miR-3179	CLIP-seq
MIRT2303159	hsa-miR-3187-5p	CLIP-seq
MIRT2303160	hsa-miR-3202	CLIP-seq
MIRT2303161	hsa-miR-378g	CLIP-seq
MIRT2303162	hsa-miR-4476	CLIP-seq
MIRT2303163	hsa-miR-4486	CLIP-seq
MIRT2303164	hsa-miR-4651	CLIP-seq
MIRT2303165	hsa-miR-4688	CLIP-seq
MIRT2303166	hsa-miR-608	CLIP-seq
MIRT2303167	hsa-miR-612	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0002046	Function	Opsin binding	IBA
GO:0002046	Function	Opsin binding	IEA
GO:0005576	Component	Extracellular region	IDA	24992209
GO:0005737	Component	Cytoplasm	IDA	24992209
GO:0005783	Component	Endoplasmic reticulum	IDA	24992209
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	24992209
GO:0005794	Component	Golgi apparatus	IEA
GO:0007601	Process	Visual perception	IEA
GO:0016020	Component	Membrane	IEA
GO:0042622	Component	Photoreceptor outer segment membrane	IBA
GO:0042622	Component	Photoreceptor outer segment membrane	IDA	27613864
GO:0042622	Component	Photoreceptor outer segment membrane	IEA
GO:0042995	Component	Cell projection	IEA

MIM	HGNC	e!Ensembl
610598	32528	ENSG00000214140

Q00LT1

Protein name

Photoreceptor disk component PRCD (Progressive rod-cone degeneration protein)

Protein function

Involved in vision.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15201	Rod_cone_degen	1 → 54	Progressive rod-cone degeneration	Family

Sequence

MCTTLFLLSTLAMLWRRRFANRVQPEPSDVDGAARGSSLDADPQSSGREKEPLK

Sequence length

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Likely pathogenic; Pathogenic	rs779066277, rs527236092, rs387907268, rs773201535, rs527451635	RCV003888332 RCV003888552 RCV001075439 RCV001074035 RCV003887978	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs779066277, rs527236092, rs387907268, rs2074970792, rs527451635	RCV001844531 RCV000132616 RCV001003124 RCV001199722 RCV005419063	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 36	Likely pathogenic; Pathogenic	rs527236092, rs387907268, rs773201535, rs527451635	RCV000678599 RCV000030701 RCV005866795 RCV005014323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
DIABETIC NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG		★★★★★ ★☆☆☆☆ 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
Neoplasms	Neoplasms	BEFREE	22344671	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	7350138	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16938425, 20507925, 23805042, 24992209, 27613864, 9501213	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 17	Retinitis Pigmentosa	BEFREE	9501213	★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 36	Retinitis Pigmentosa	UNIPROT_DG	16938425, 24992209, 27613864	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 36	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 36	Retinitis Pigmentosa	CTD_human_DG		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 36	Retinitis Pigmentosa	CLINVAR_DG		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only

PRCD (photoreceptor disc component)