Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9581
Gene name Gene Name - the full gene name approved by the HGNC.
Prolyl endopeptidase like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PREPL
Synonyms (NCBI Gene) Gene synonyms aliases
CMS22
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMS22
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005634 Component Nucleus IEA
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0005802 Component Trans-Golgi network ISS
GO:0005829 Component Cytosol IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609557 30228 ENSG00000138078
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Myasthenic syndrome Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Myasthenic Syndrome, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 22 rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922
View all (237 more)
27472506, 24610330
Cystinuria Cystinuria rs121908479, rs121908480, rs121908482, rs121908483, rs121908484, rs121908485, rs121912691, rs121912693, rs121912694, rs387907276, rs797044609, rs1085307095, rs886042834, rs745319034, rs200483989
View all (20 more)
20517292, 15635077, 28717662, 22493502, 7573036, 26537754
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Isolated somatotropin deficiency Isolated somatotropin deficiency rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Associations from Text Mining
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