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	79810
Gene name	Pentatricopeptide repeat domain 2
Gene symbol	PTCD2
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5q13.2

114

Show/Hide all (114)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042615	hsa-miR-423-3p	CLASH	23622248
MIRT042615	hsa-miR-423-3p	CLASH	23622248
MIRT692002	hsa-miR-4676-5p	HITS-CLIP	23313552
MIRT692001	hsa-miR-575	HITS-CLIP	23313552
MIRT692000	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT691999	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT691998	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT662531	hsa-miR-539-5p	HITS-CLIP	23824327
MIRT644936	hsa-miR-4434	HITS-CLIP	23824327
MIRT644935	hsa-miR-4516	HITS-CLIP	23824327
MIRT644934	hsa-miR-5703	HITS-CLIP	23824327
MIRT644931	hsa-miR-5011-3p	HITS-CLIP	23824327
MIRT644930	hsa-miR-4666b	HITS-CLIP	23824327
MIRT644929	hsa-miR-4531	HITS-CLIP	23824327
MIRT644928	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT644927	hsa-miR-507	HITS-CLIP	23824327
MIRT644926	hsa-miR-557	HITS-CLIP	23824327
MIRT644925	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT644924	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT644936	hsa-miR-4434	HITS-CLIP	23824327
MIRT644935	hsa-miR-4516	HITS-CLIP	23824327
MIRT644934	hsa-miR-5703	HITS-CLIP	23824327
MIRT644933	hsa-miR-19a-3p	HITS-CLIP	23824327
MIRT644932	hsa-miR-19b-3p	HITS-CLIP	23824327
MIRT644931	hsa-miR-5011-3p	HITS-CLIP	23824327
MIRT644930	hsa-miR-4666b	HITS-CLIP	23824327
MIRT644929	hsa-miR-4531	HITS-CLIP	23824327
MIRT644928	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT644927	hsa-miR-507	HITS-CLIP	23824327
MIRT644926	hsa-miR-557	HITS-CLIP	23824327
MIRT644925	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT644924	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT692002	hsa-miR-4676-5p	HITS-CLIP	23313552
MIRT692001	hsa-miR-575	HITS-CLIP	23313552
MIRT692000	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT691999	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT691998	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT662531	hsa-miR-539-5p	HITS-CLIP	23824327
MIRT644936	hsa-miR-4434	HITS-CLIP	23824327
MIRT644935	hsa-miR-4516	HITS-CLIP	23824327
MIRT644934	hsa-miR-5703	HITS-CLIP	23824327
MIRT644931	hsa-miR-5011-3p	HITS-CLIP	23824327
MIRT644930	hsa-miR-4666b	HITS-CLIP	23824327
MIRT644929	hsa-miR-4531	HITS-CLIP	23824327
MIRT644928	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT644927	hsa-miR-507	HITS-CLIP	23824327
MIRT644926	hsa-miR-557	HITS-CLIP	23824327
MIRT644925	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT644924	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT644936	hsa-miR-4434	HITS-CLIP	23824327
MIRT644935	hsa-miR-4516	HITS-CLIP	23824327
MIRT644934	hsa-miR-5703	HITS-CLIP	23824327
MIRT644933	hsa-miR-19a-3p	HITS-CLIP	23824327
MIRT644932	hsa-miR-19b-3p	HITS-CLIP	23824327
MIRT644931	hsa-miR-5011-3p	HITS-CLIP	23824327
MIRT644930	hsa-miR-4666b	HITS-CLIP	23824327
MIRT644929	hsa-miR-4531	HITS-CLIP	23824327
MIRT644928	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT644927	hsa-miR-507	HITS-CLIP	23824327
MIRT644926	hsa-miR-557	HITS-CLIP	23824327
MIRT644925	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT644924	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT2079959	hsa-miR-2113	CLIP-seq
MIRT2079960	hsa-miR-218	CLIP-seq
MIRT2079961	hsa-miR-4251	CLIP-seq
MIRT2079962	hsa-miR-4663	CLIP-seq
MIRT2079963	hsa-miR-4803	CLIP-seq
MIRT2603571	hsa-miR-1263	CLIP-seq
MIRT2603572	hsa-miR-128	CLIP-seq
MIRT2603573	hsa-miR-205	CLIP-seq
MIRT2603574	hsa-miR-27a	CLIP-seq
MIRT2603575	hsa-miR-27b	CLIP-seq
MIRT2603576	hsa-miR-3126-5p	CLIP-seq
MIRT2603577	hsa-miR-3157-5p	CLIP-seq
MIRT2603578	hsa-miR-3622b-5p	CLIP-seq
MIRT2603579	hsa-miR-3684	CLIP-seq
MIRT2603580	hsa-miR-3919	CLIP-seq
MIRT2603581	hsa-miR-4303	CLIP-seq
MIRT2603582	hsa-miR-4304	CLIP-seq
MIRT2603583	hsa-miR-4305	CLIP-seq
MIRT2603584	hsa-miR-4327	CLIP-seq
MIRT2603585	hsa-miR-4330	CLIP-seq
MIRT2603586	hsa-miR-4419a	CLIP-seq
MIRT2603587	hsa-miR-4510	CLIP-seq
MIRT2603588	hsa-miR-4649-3p	CLIP-seq
MIRT2603589	hsa-miR-4661-3p	CLIP-seq
MIRT2603590	hsa-miR-4691-3p	CLIP-seq
MIRT2603591	hsa-miR-4756-3p	CLIP-seq
MIRT2603592	hsa-miR-4762-3p	CLIP-seq
MIRT2079963	hsa-miR-4803	CLIP-seq
MIRT2603593	hsa-miR-513a-5p	CLIP-seq
MIRT2603572	hsa-miR-128	CLIP-seq
MIRT2603573	hsa-miR-205	CLIP-seq
MIRT2603574	hsa-miR-27a	CLIP-seq
MIRT2603575	hsa-miR-27b	CLIP-seq
MIRT2603576	hsa-miR-3126-5p	CLIP-seq
MIRT2603577	hsa-miR-3157-5p	CLIP-seq
MIRT2603578	hsa-miR-3622b-5p	CLIP-seq
MIRT2603579	hsa-miR-3684	CLIP-seq
MIRT2603580	hsa-miR-3919	CLIP-seq
MIRT2603581	hsa-miR-4303	CLIP-seq
MIRT2603582	hsa-miR-4304	CLIP-seq
MIRT2603583	hsa-miR-4305	CLIP-seq
MIRT2603584	hsa-miR-4327	CLIP-seq
MIRT2603585	hsa-miR-4330	CLIP-seq
MIRT2603586	hsa-miR-4419a	CLIP-seq
MIRT2603587	hsa-miR-4510	CLIP-seq
MIRT2603588	hsa-miR-4649-3p	CLIP-seq
MIRT2603589	hsa-miR-4661-3p	CLIP-seq
MIRT2603590	hsa-miR-4691-3p	CLIP-seq
MIRT2603591	hsa-miR-4756-3p	CLIP-seq
MIRT2603592	hsa-miR-4762-3p	CLIP-seq
MIRT2079963	hsa-miR-4803	CLIP-seq
MIRT2603593	hsa-miR-513a-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001889	Process	Liver development	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	18729827
GO:0005739	Component	Mitochondrion	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007507	Process	Heart development	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0050684	Process	Regulation of mRNA processing	IBA
GO:0050684	Process	Regulation of mRNA processing	IEA
GO:0050684	Process	Regulation of mRNA processing	IEA
GO:0050684	Process	Regulation of mRNA processing	ISS
GO:0055001	Process	Muscle cell development	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA

MIM	HGNC	e!Ensembl
615484	25734	ENSG00000049883

Q8WV60

Protein name

Pentatricopeptide repeat-containing protein 2, mitochondrial

Protein function

Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10037	MRP-S27	28 → 360	Mitochondrial 28S ribosomal protein S27	Family

Sequence

MVRDSMAAAFRPSNRVLLQALQILVYPGVGGSGSVSCRCPLGAKRYLLTDNVVKLKEFQQ
KKVAVACNLSGTKETYFRNLKKKLTQNKLILKGELITLLHLCESRDHVELAKNVIYRYHA
ENKNFTLGEYKFGPLFVRLCYELDLEESAVELMKDQHLRGFFSDSTSFNILMDMLFIKGK
YKSALQVLIEMKNQDVKFTKDTYVLAFAICYKLNSPESFKICTTLREEALLKGEILSRRA
SCFAVALALNQNEMAKAVSIFSQIMNPESIACINLNIIIHIQSNMLENLIKTLKNAAEGN
LSKFVKRHVFSEEVLAKVREKVKDVPALVAKFDEIYGTLHITGQVTTDSLDAVLCHTPRD
RKSHTLLLNKRMVSRRTFQPLSQSLLAE

Sequence length

388

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 Unknown Diseases (16)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Cardiovascular Diseases	Associate	33883000	★★★★★ ★☆☆☆☆ Found in Text Mining only

PTCD2 (pentatricopeptide repeat domain 2)