PTENP1

phosphatase and tensin homolog pseudogene 1

Basic information

Region (hg38): 9:33675437-33676651

Links

ENSG00000237984

∙ NCBI:11191 ∙ OMIM:613531 ∙ HGNC:9589 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PTENP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTENP1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits. {ECO:0000269|PubMed:11861531, ECO:0000269|PubMed:12559132, ECO:0000269|PubMed:12754053, ECO:0000269|PubMed:14988434}.;

Recessive Scores

pRec: 0.946

Intolerance Scores

loftool
rvis_EVS: 0.64
rvis_percentile_EVS: 83.63

Haploinsufficiency Scores

pHI: 0.150
hipred: N
hipred_score: 0.290
ghis

Mouse Genome Informatics

Gene name: Pth2
Phenotype: reproductive system phenotype; endocrine/exocrine gland phenotype;