Gene Gene information from NCBI Gene database.
Entrez ID 135293
Gene name Peptidase M20 domain containing 2
Gene symbol PM20D2
Synonyms (NCBI Gene)
ACY1L2
Chromosome 6
Chromosome location 6q15
miRNA miRNA information provided by mirtarbase database.
622
miRTarBase ID miRNA Experiments Reference
MIRT016356 hsa-miR-193b-3p Microarray 20304954
MIRT030804 hsa-miR-21-5p Microarray 18591254
MIRT685436 hsa-miR-340-3p HITS-CLIP 23313552
MIRT685435 hsa-miR-6827-3p HITS-CLIP 23313552
MIRT685434 hsa-miR-3190-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0006508 Process Proteolysis IDA 24891507
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615913 21408 ENSG00000146281
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IYS1
Protein name Xaa-Arg dipeptidase (EC 3.4.13.4) (Beta-Ala-Lys dipeptidase)
Protein function Catalyzes the peptide bond hydrolysis in dipeptides having basic amino acids lysine, ornithine or arginine at C-terminus. Postulated to function in a metabolite repair mechanism by eliminating alternate dipeptide by-products formed during carnos
PDB 7YH4 , 8XZC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01546 Peptidase_M20 111 395 Peptidase family M20/M25/M40 Family
PF07687 M20_dimer 204 301 Peptidase dimerisation domain Domain
Sequence
MRPGGERPVEGGACNGRSELELLKLRSAECIDEAAERLGALSRAIWSQPELAYEEHHAHR
VLTHFFEREPPAASWAVQPHYQLPTAFRAEWEPPEARAPSATPRPLHLGFLCEYDALPGI
GHACGHNLIAEVGAAAALGVRGALEGLPRPPPPVKVVVLGTPAEEDGGGKIDLIEAGAFT
NLDVVFMAHPSQENAAYLPDMAE
HDVTVKYYGKASHSASYPWEGLNALDAAVLAYNNLSV
FRQQMKPTWRVHGIIKNGGVKPNIIPSYSELIYYFRAPSMKELQVLTKKAEDCFRAAALA
S
GCTVEIKGGAHDYYNVLPNKSLWKAYMENGRKLGIEFISEDTMLNGPSGSTDFGNVSFV
VPGIHPYFHIGSNALNHTEQYTEAAGSQEAQFYTL
RTAKALAMTALDVIFKPELLEGIRE
DFKLKLQEEQFVNAVE
Sequence length 436
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations