DPP6 (dipeptidyl peptidase like 6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1804
Gene name Gene Name - the full gene name approved by the HGNC.
Dipeptidyl peptidase like 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DPP6
Synonyms (NCBI Gene) Gene synonyms aliases
DPL1, DPPX, MRD33, VF2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
126141 3010 ENSG00000130226
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 33 rs786205143 N/A
Show/Hide Unknown Diseases (16)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis N/A N/A GWAS
Asthma Asthma N/A N/A GWAS
Barrett esophagus Barrett's esophagus N/A N/A GWAS
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
Show/Hide Text Mining Associations (37)
Associations from Text Mining Disease 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