Gene Gene information from NCBI Gene database.
Entrez ID 9581
Gene name Prolyl endopeptidase like
Gene symbol PREPL
Synonyms (NCBI Gene)
CMS22
Chromosome 2
Chromosome location 2p21
Summary The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced t
SNPs SNP information provided by dbSNP.
18
SNP ID Visualize variation Clinical significance Consequence
rs111438719 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs113272276 T>C Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs145356495 G>A Pathogenic Coding sequence variant, stop gained
rs148092524 C>A,T Likely-pathogenic Splice donor variant
rs748639083 AACA>- Pathogenic Frameshift variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
480
miRTarBase ID miRNA Experiments Reference
MIRT030991 hsa-miR-21-5p Microarray 18591254
MIRT045698 hsa-miR-125a-5p CLASH 23622248
MIRT555255 hsa-miR-5000-5p PAR-CLIP 21572407
MIRT555254 hsa-miR-16-2-3p PAR-CLIP 21572407
MIRT555253 hsa-miR-195-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005794 Component Golgi apparatus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609557 30228 ENSG00000138078
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4J6C6
Protein name Prolyl endopeptidase-like (EC 3.4.21.-) (Prolylendopeptidase-like)
Protein function Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and
PDB 7OBM , 8RFB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02897 Peptidase_S9_N 81 430 Prolyl oligopeptidase, N-terminal beta-propeller domain Domain
PF00326 Peptidase_S9 488 711 Prolyl oligopeptidase family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in pyramidal neurons of the temporal cortex and neocortex (at protein level) (PubMed:23485813). Widely expressed (PubMed:15913950, PubMed:16385448). Expressed at higher level in brain, skeletal muscle, heart and kidney (PubMe
Sequence
Sequence length 727
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
677
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Melanoma Likely pathogenic rs768538177 RCV005930434
Myasthenic syndrome, congenital, 22 Likely pathogenic; Pathogenic rs1673169930, rs2104270031, rs2103925424, rs2103986758, rs779879227, rs374594354, rs983509465, rs2103914962, rs2466093446, rs768538177, rs753545038, rs2466493117, rs775136514, rs1674217480, rs2466493535
View all (22 more)
RCV001331527
RCV001386921
RCV002037702
RCV002012052
RCV001921543
RCV001951356
RCV001935957
RCV001981128
RCV002289237
RCV003078092
RCV002594700
RCV002681591
RCV002731535
RCV002885072
RCV003593194
RCV003757370
RCV003757494
RCV003989022
RCV004587813
RCV000437878
RCV000529873
RCV000553733
RCV001860013
RCV001253360
RCV000655733
RCV000662356
RCV000662357
RCV000662358
RCV000686561
RCV000695113
RCV000707274
RCV000808982
RCV000803880
RCV001027741
RCV001054169
RCV001214048
RCV001225979
RCV001251163
Premature ovarian insufficiency Pathogenic rs1558502635 RCV000766144
PREPL-related disorder Likely pathogenic; Pathogenic rs1057523690, rs200761047, rs775517492 RCV003419005
RCV003431125
RCV003420265
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs78349078, rs75128515 RCV005898463
RCV005898471
Cervical cancer Benign rs75128515 RCV005898473
Cholangiocarcinoma Benign rs698763 RCV005924738
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs750292662 RCV005871081
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Clinical Deterioration Associate 28726805
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 32707643
Dwarfism Pituitary Associate 24610330
Hypotonia Cystinuria Syndrome Associate 16385448, 24610330, 28726805, 34612606
Immunologic Deficiency Syndromes Associate 28726805
Myasthenic Syndromes Congenital Associate 24610330, 31985178, 32707643
Myasthenic Syndromes Congenital Inhibit 31985178
Uniparental disomy of chromosome 2 Associate 31985178, 32707643