DPP6 (dipeptidyl peptidase like 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 1804
Gene name Dipeptidyl peptidase like 6
Gene symbol DPP6
Synonyms (NCBI Gene)
DPL1DPPXMRD33VF2
Chromosome 7
Chromosome location 7q36.2
Summary This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs6977820 T>A,C Drug-response Genic upstream transcript variant, intron variant
rs572667303 A>T Conflicting-interpretations-of-pathogenicity, likely-benign Genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs606231226 C>T Pathogenic Genic upstream transcript variant, intron variant, upstream transcript variant
rs786205143 A>C Pathogenic Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
39
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (39)
miRTarBase ID miRNA Experiments Reference
MIRT496681 hsa-miR-497-3p HITS-CLIP 23313552
MIRT496681 hsa-miR-497-3p PAR-CLIP 22291592
MIRT449362 hsa-miR-513b-3p PAR-CLIP 22291592
MIRT449363 hsa-miR-1276 PAR-CLIP 22100165
MIRT449362 hsa-miR-513b-3p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10551270
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
GO:0006508 Process Proteolysis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
126141 3010 ENSG00000130226
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42658
Protein name A-type potassium channel modulatory protein DPP6 (DPPX) (Dipeptidyl aminopeptidase-like protein 6) (Dipeptidyl aminopeptidase-related protein) (Dipeptidyl peptidase 6) (Dipeptidyl peptidase IV-like protein) (Dipeptidyl peptidase VI) (DPP VI)
Protein function Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437, PubMed:19441798). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:18364354). Has no dipeptidyl aminopeptidase activity (Pu
PDB 1XFD , 7E87 , 7E89 , 7E8B , 7E8E , 7E8G , 7E8H , 7UKG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00930 DPPIV_N 195 → 561 Dipeptidyl peptidase IV (DPP IV) N-terminal region Family
PF00326 Peptidase_S9 641 → 850 Prolyl oligopeptidase family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in brain.
Sequence 
MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDGGAGAKPLGPRAQAAAPRERGGGG
GGAGGRPRFQYQARSDGDEEDELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPA
EDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGTVRLWNVETNTSTVLIE
GKKIESLRAIRYEISPDREYALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNA
KLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKT
HIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIG
LNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTK
KHEDESEAWLHRQNEEPVFSKDGRKFFFIRAIPQGGRGKFYHITVSSSQPNSSNDNIQSI
TSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNRQCLSCDLVENCTYFS
ASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIE
IDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKC
DGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTY
ILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEMTKVAHRVSALE
EQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSII
NFFVECFRIQDKLLTVTAKEDEEED
Sequence length 865
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
75
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, autosomal dominant 33 Pathogenic rs786205143 RCV000169782
Ventricular fibrillation, paroxysmal familial, 2 Pathogenic rs606231226 RCV000018285
Show/Hide Unknown Diseases (17)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiac arrest Uncertain significance rs770646362 RCV000208521
Cervical cancer Benign rs79559356, rs75078012 RCV005915156
RCV005920459
Collapse (finding) Uncertain significance rs730880075 RCV000157169
Colon adenocarcinoma Benign rs75078012 RCV005920458
Show/Hide Text Mining Associations (37)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32688456
Alzheimer Disease Inhibit 26517091
Alzheimer Disease Associate 30874922
Amyotrophic Lateral Sclerosis Associate 22470424, 24154603, 31164693
Arrhythmias Cardiac Associate 31476289, 36008935
Arrhythmogenic Right Ventricular Dysplasia Associate 36008935
Autism Spectrum Disorder Associate 18252227, 32393163
Autistic Disorder Associate 27759917
Carcinogenesis Associate 32987560
Carcinoma Pancreatic Ductal Associate 32701143