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Aliases for DPP6 Gene

Aliases for DPP6 Gene

  • Dipeptidyl Peptidase Like 6 2 3 5
  • Dipeptidyl Peptidase VI 3 4
  • Dipeptidyl-Peptidase 6 2 3
  • Dipeptidyl Peptidase 6 2 4
  • DPP VI 3 4
  • DPPX 3 4
  • Dipeptidyl Aminopeptidase IV-Related Protein 3
  • Dipeptidyl Aminopeptidase-Related Protein 4
  • Dipeptidyl Aminopeptidase-Like Protein 6 3
  • Dipeptidyl Peptidase IV-Related Protein 3
  • Dipeptidyl Peptidase IV-Like Protein 4
  • Dipeptidylpeptidase VI 2
  • Dipeptidylpeptidase 6 2
  • MRD33 3
  • DPL1 3
  • VF2 3

External Ids for DPP6 Gene

Previous GeneCards Identifiers for DPP6 Gene

  • GC07P151996
  • GC07P152248
  • GC07P153064
  • GC07P153141
  • GC07P153187
  • GC07P153381
  • GC07P153584
  • GC07P147386
  • GC07P153748

Summaries for DPP6 Gene

Entrez Gene Summary for DPP6 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 the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for DPP6 Gene

DPP6 (Dipeptidyl Peptidase Like 6) is a Protein Coding gene. Diseases associated with DPP6 include Mental Retardation, Autosomal Dominant 33 and Ventricular Fibrillation, Paroxysmal Familial, 2. GO annotations related to this gene include serine-type peptidase activity and dipeptidyl-peptidase activity. An important paralog of this gene is DPP10.

UniProtKB/Swiss-Prot for DPP6 Gene

  • 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 (PubMed:8103397, PubMed:15476821).

Gene Wiki entry for DPP6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPP6 Gene

Genomics for DPP6 Gene

Regulatory Elements for DPP6 Gene

Enhancers for DPP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F153888 0.5 FANTOM5 28.8 +1.6 1570 0.1 SUZ12 DPP6 PIR44131
GH07F154841 0.7 ENCODE 11.6 +955.1 955066 1.0 ZNF362 ZNF146 CEBPB REST EP300 OSR2 GATA3 ZNF692 ZNF341 STAT3 LOC105375580 DPP6 GC07P154834
GH07F154844 0.6 ENCODE 11.5 +958.1 958128 0.6 HNF1A SAP130 ATF3 HLF NFYC HNF4G SIN3B YY1 LOC105375580 DPP6 GC07P154834
GH07F154195 0.3 FANTOM5 1.6 +308.3 308342 0.2 DPP6 GC07M154185 PIR57170
GH07F153887 0.5 ENCODE 0.8 +0.1 84 0.3 CTCF SUZ12 FOXP2 DPP6 PIR44131
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DPP6 on UCSC Golden Path with GeneCards custom track

Genomic Location for DPP6 Gene

Chromosome:
7
Start:
153,887,097 bp from pter
End:
154,894,290 bp from pter
Size:
1,007,194 bases
Orientation:
Plus strand

Genomic View for DPP6 Gene

Genes around DPP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPP6 Gene

Proteins for DPP6 Gene

  • Protein details for DPP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42658-DPP6_HUMAN
    Recommended name:
    Dipeptidyl aminopeptidase-like protein 6
    Protein Accession:
    P42658

    Protein attributes for DPP6 Gene

    Size:
    865 amino acids
    Molecular mass:
    97588 Da
    Quaternary structure:
    • Homodimer (in vitro) (PubMed:15476821). Interacts with KCND2 (PubMed:15454437, PubMed:18364354). Identified in a complex with KCND2 and KCNIP2 (PubMed:18364354). Forms an octameric complex composed of four DPP6 subunits bound to the KCND2 tetramer (PubMed:18364354).
    Miscellaneous:
    • Genetic variation in DPP6 may influence susceptibility to amyotrophic lateral sclerosis (ALS). ALS is a severely disabling and lethal disorder caused by progressive degeneration of motor neurons in the brain, spinal cord and brainstem.

    Three dimensional structures from OCA and Proteopedia for DPP6 Gene

    Alternative splice isoforms for DPP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPP6 Gene

Post-translational modifications for DPP6 Gene

  • N-glycosylated.
  • Glycosylation at Asn 173, Asn 319, Asn 404, Asn 471, Asn 535, Asn 566, and Asn 813
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for DPP6 Gene

Domains & Families for DPP6 Gene

Protein Domains for DPP6 Gene

Suggested Antigen Peptide Sequences for DPP6 Gene

Graphical View of Domain Structure for InterPro Entry

P42658

UniProtKB/Swiss-Prot:

DPP6_HUMAN :
  • Belongs to the peptidase S9B family.
Family:
  • Belongs to the peptidase S9B family.
genes like me logo Genes that share domains with DPP6: view

Function for DPP6 Gene

Molecular function for DPP6 Gene

GENATLAS Biochemistry:
peptidase,dipeptidyl,related
UniProtKB/Swiss-Prot 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 (PubMed:8103397, PubMed:15476821).

Gene Ontology (GO) - Molecular Function for DPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008236 serine-type peptidase activity IEA --
GO:0008239 NOT dipeptidyl-peptidase activity IDA 8103397
GO:0015459 potassium channel regulator activity ISS --
genes like me logo Genes that share ontologies with DPP6: view
genes like me logo Genes that share phenotypes with DPP6: view

Human Phenotype Ontology for DPP6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPP6 Gene

MGI Knock Outs for DPP6:

Animal Model Products

  • Taconic Biosciences Mouse Models for DPP6

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DPP6 Gene

Localization for DPP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPP6 Gene

Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPP6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0008076 voltage-gated potassium channel complex IDA 18364354
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 18364354
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with DPP6: view

Pathways & Interactions for DPP6 Gene

No Data Available

Interacting Proteins for DPP6 Gene

Gene Ontology (GO) - Biological Process for DPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0072659 protein localization to plasma membrane ISS --
GO:1901379 regulation of potassium ion transmembrane transport ISS --
genes like me logo Genes that share ontologies with DPP6: view

No data available for Pathways by source and SIGNOR curated interactions for DPP6 Gene

Drugs & Compounds for DPP6 Gene

(2) Drugs for DPP6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DPP6: view

Transcripts for DPP6 Gene

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPP6 Gene

No ASD Table

Relevant External Links for DPP6 Gene

GeneLoc Exon Structure for
DPP6
ECgene alternative splicing isoforms for
DPP6

Expression for DPP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DPP6 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for DPP6 Gene

This gene is overexpressed in Brain (27.1), Frontal cortex (24.7), and Fetal Brain (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DPP6 Gene



Protein tissue co-expression partners for DPP6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DPP6 Gene:

DPP6

SOURCE GeneReport for Unigene cluster for DPP6 Gene:

Hs.490684

mRNA Expression by UniProt/SwissProt for DPP6 Gene:

P42658-DPP6_HUMAN
Tissue specificity: Expressed predominantly in brain.
genes like me logo Genes that share expression patterns with DPP6: view

Primer Products

Orthologs for DPP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for DPP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPP6 34 35
  • 98.36 (n)
dog
(Canis familiaris)
Mammalia DPP6 34 35
  • 88.9 (n)
oppossum
(Monodelphis domestica)
Mammalia DPP6 35
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DPP6 34 35
  • 87.1 (n)
rat
(Rattus norvegicus)
Mammalia Dpp6 34
  • 86.11 (n)
mouse
(Mus musculus)
Mammalia Dpp6 34 16 35
  • 85.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPP6 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPP6 34 35
  • 76.52 (n)
lizard
(Anolis carolinensis)
Reptilia DPP6 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dpp6 34
  • 69.42 (n)
zebrafish
(Danio rerio)
Actinopterygii dpp6a 35
  • 64 (a)
OneToMany
dpp6b 34 35
  • 63.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11319 36
  • 33 (a)
CG9059 36
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea T23F1.7a 36
  • 27 (a)
T23F1.7b 36
  • 27 (a)
C27C12.7 36
  • 25 (a)
dpf-3 35
  • 15 (a)
OneToMany
Species where no ortholog for DPP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DPP6 Gene

ENSEMBL:
Gene Tree for DPP6 (if available)
TreeFam:
Gene Tree for DPP6 (if available)

Paralogs for DPP6 Gene

Paralogs for DPP6 Gene

(3) SIMAP similar genes for DPP6 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for DPP6 Gene

genes like me logo Genes that share paralogs with DPP6: view

Variants for DPP6 Gene

Sequence variations from dbSNP and Humsavar for DPP6 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs6977820 drug-response 154,374,935(+) aattc(C/T)ttcaa intron-variant
rs786205143 Mental retardation, autosomal dominant 33 (MRD33) [MIM:616311], Pathogenic 154,794,095(+) TCACC(A/C)TGGTG reference, missense
rs606231226 Pathogenic 154,305,155(+) GCGCG(C/T)ATCAC intron-variant, upstream-variant-2KB
rs572667303 Likely benign 154,053,047(+) GAGCG(A/T)TGGTG intron-variant, reference, missense
rs140460765 Uncertain significance 154,853,824(+) ATAAG(A/C)AAAGT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DPP6 Gene

Variant ID Type Subtype PubMed ID
esv2434145 CNV insertion 19546169
nsv1124295 CNV deletion 24896259
nsv1117778 CNV deletion 24896259
nsv1115765 CNV duplication 24896259
nsv1115764 CNV duplication 24896259
nsv1115035 CNV deletion 24896259
nsv1112944 CNV deletion 24896259
nsv1109592 CNV deletion 24896259
nsv1078267 CNV insertion 25765185
nsv1076973 CNV deletion 25765185
nsv1076631 CNV duplication 25765185
nsv1075487 CNV deletion 25765185
nsv1075486 CNV deletion 25765185
nsv1074563 CNV deletion 25765185
nsv1067934 OTHER inversion 25765185
nsv1033085 CNV gain 25217958
nsv1030595 CNV gain 25217958
nsv1030144 CNV loss 25217958
nsv1026784 CNV loss 25217958
nsv1022813 CNV gain 25217958
nsv1022811 CNV loss 25217958
nsv1020421 CNV gain 25217958
nsv1019347 CNV gain 25217958
nsv1019341 CNV gain 25217958
esv998210 CNV deletion 20482838
esv991575 CNV deletion 20482838
esv988293 CNV deletion 20482838
esv8110 CNV loss 19470904
esv6277 CNV loss 19470904
esv5151 CNV loss 18987735
esv4846 CNV loss 18987735
esv4695 CNV loss 18987735
esv4438 CNV loss 18987735
esv4397 CNV loss 18987735
esv3891244 CNV gain 25118596
esv3891243 CNV gain 25118596
esv3615616 CNV loss 21293372
esv3615614 CNV loss 21293372
esv3615612 CNV loss 21293372
esv3615611 CNV loss 21293372
esv3615610 CNV loss 21293372
esv3615609 CNV loss 21293372
esv3615608 CNV loss 21293372
esv3615605 CNV loss 21293372
esv3615604 CNV loss 21293372
esv3615603 CNV gain 21293372
esv3615599 CNV gain 21293372
esv3615598 CNV loss 21293372
esv3615597 CNV gain 21293372
esv3615595 CNV loss 21293372
esv3615594 CNV loss 21293372
esv3615593 CNV loss 21293372
esv3615592 CNV loss 21293372
esv3615589 CNV gain 21293372
esv3615588 CNV gain 21293372
esv3615587 CNV gain 21293372
esv3615586 CNV loss 21293372
esv3615585 CNV gain 21293372
esv3615582 CNV gain 21293372
esv3615577 CNV gain 21293372
esv3584557 CNV gain 24956385
esv3576490 CNV gain 25503493
esv3576485 CNV gain 25503493
esv3572333 CNV loss 25503493
esv3572327 CNV loss 25503493
esv3572315 CNV loss 25503493
esv3572314 CNV loss 25503493
esv3572313 CNV loss 25503493
esv3572310 CNV loss 25503493
esv3572309 CNV loss 25503493
esv3572307 CNV loss 25503493
esv3542732 CNV deletion 23714750
esv3542730 CNV deletion 23714750
esv3542726 CNV deletion 23714750
esv3542725 CNV deletion 23714750
esv3542721 CNV deletion 23714750
esv3542720 CNV deletion 23714750
esv3416927 CNV insertion 20981092
esv34081 CNV loss 18971310
esv3392320 CNV duplication 20981092
esv3389576 CNV insertion 20981092
esv3275273 CNV deletion 24192839
esv3275051 CNV deletion 24192839
esv29693 CNV loss 19812545
esv2761386 CNV loss 21179565
esv2759577 CNV gain 17122850
esv2735523 CNV deletion 23290073
esv2735522 CNV deletion 23290073
esv2735521 CNV deletion 23290073
esv2735520 CNV deletion 23290073
esv2735519 CNV deletion 23290073
esv2735518 CNV deletion 23290073
esv2735515 CNV deletion 23290073
esv2735513 CNV deletion 23290073
esv2735512 CNV deletion 23290073
esv2735511 CNV deletion 23290073
esv2735510 CNV deletion 23290073
esv2735509 CNV deletion 23290073
esv2735508 CNV deletion 23290073
esv2735507 CNV deletion 23290073
esv2735505 CNV deletion 23290073
esv2735504 CNV deletion 23290073
esv2735503 CNV deletion 23290073
esv2735502 CNV deletion 23290073
esv2735501 CNV deletion 23290073
esv2735500 CNV deletion 23290073
esv2735499 CNV deletion 23290073
esv2735498 CNV deletion 23290073
esv2735497 CNV deletion 23290073
esv2735496 CNV deletion 23290073
esv2735494 CNV deletion 23290073
esv2735493 CNV deletion 23290073
esv2735492 CNV deletion 23290073
esv2735491 CNV deletion 23290073
esv2735490 CNV deletion 23290073
esv2735489 CNV deletion 23290073
esv2735488 CNV deletion 23290073
esv2735487 CNV deletion 23290073
esv2735486 CNV deletion 23290073
esv2735485 CNV deletion 23290073
esv2735483 CNV deletion 23290073
esv2735482 CNV deletion 23290073
esv2735481 CNV deletion 23290073
esv2671914 CNV deletion 23128226
esv2671112 CNV deletion 23128226
esv2669098 CNV deletion 23128226
esv2667815 CNV deletion 23128226
esv2666239 CNV deletion 23128226
esv2665978 CNV deletion 23128226
esv2664872 CNV deletion 23128226
esv2662885 CNV deletion 23128226
esv2660113 CNV deletion 23128226
esv2659494 CNV deletion 23128226
esv2637772 CNV deletion 19546169
esv2634055 CNV deletion 19546169
esv2628794 CNV insertion 19546169
esv26207 CNV gain+loss 19812545
esv2606084 CNV deletion 19546169
esv2602761 CNV deletion 19546169
esv2561489 CNV insertion 19546169
esv2540470 CNV loss 19546169
esv24733 CNV gain 19812545
esv2465998 CNV loss 19546169
esv2422311 CNV duplication 17116639
esv2366894 CNV deletion 18987734
esv2353387 CNV deletion 18987734
esv22669 CNV loss 19812545
esv22392 CNV loss 19812545
esv2025877 CNV deletion 18987734
esv1940735 CNV deletion 18987734
esv1758390 CNV deletion 17803354
esv1692856 CNV deletion 17803354
esv1610528 CNV deletion 17803354
esv1451910 CNV insertion 17803354
esv1443053 CNV deletion 17803354
esv1371027 CNV deletion 17803354
esv1296344 CNV deletion 17803354
esv1294593 CNV deletion 17803354
esv1263400 CNV deletion 17803354
esv1110347 CNV insertion 17803354
esv1097647 CNV deletion 17803354
esv1009254 CNV loss 20482838
esv1007428 CNV loss 20482838
esv1004696 CNV deletion 20482838
esv1001960 CNV loss 20482838
dgv848n27 CNV loss 19166990
dgv847n27 CNV gain 19166990
dgv6762n100 CNV gain 25217958
dgv4005e59 CNV duplication 20981092
dgv3713n106 CNV insertion 24896259
dgv3711n106 CNV deletion 24896259
dgv3695n106 OTHER inversion 24896259
dgv32e209 CNV deletion 24192839
dgv239e55 CNV gain 17911159
dgv238e55 CNV gain 17911159
dgv205n73 CNV deletion 24416366
dgv2005e212 CNV loss 25503493
dgv2004e212 CNV loss 25503493
dgv2003e212 CNV loss 25503493
dgv2002e212 CNV gain 25503493
dgv2001e212 CNV gain 25503493
dgv2000e212 CNV loss 25503493
dgv1999e212 CNV loss 25503493
dgv1998e212 CNV loss 25503493
dgv1997e212 CNV loss 25503493
dgv1346e214 CNV loss 21293372
dgv1345e214 CNV gain 21293372
dgv1253e199 CNV deletion 23128226
dgv11742n54 CNV loss 21841781
dgv11741n54 CNV gain 21841781
dgv11740n54 CNV gain+loss 21841781
dgv11739n54 CNV gain+loss 21841781
dgv11738n54 CNV loss 21841781
dgv11737n54 CNV loss 21841781
dgv11736n54 CNV loss 21841781
dgv11735n54 CNV loss 21841781
dgv11734n54 CNV gain 21841781
dgv11733n54 CNV gain 21841781
dgv1148n67 CNV loss 20364138
dgv1134e201 CNV deletion 23290073
nsv970980 CNV duplication 23825009
nsv970979 CNV duplication 23825009
nsv970620 CNV duplication 23825009
nsv970619 CNV duplication 23825009
nsv957553 CNV deletion 24416366
nsv951659 CNV deletion 24416366
nsv831195 CNV gain 17160897
nsv824403 CNV gain 20364138
nsv824402 CNV gain 20364138
nsv8237 CNV gain+loss 18304495
nsv821075 CNV deletion 20802225
nsv820907 CNV deletion 20802225
nsv820692 CNV deletion 20802225
nsv818571 CNV gain 17921354
nsv609112 CNV gain 21841781
nsv609111 CNV gain 21841781
nsv609106 CNV gain 21841781
nsv609105 CNV loss 21841781
nsv609104 CNV loss 21841781
nsv609103 CNV loss 21841781
nsv609099 CNV gain 21841781
nsv609094 CNV loss 21841781
nsv609093 CNV loss 21841781
nsv609083 CNV loss 21841781
nsv609082 CNV gain 21841781
nsv609081 CNV loss 21841781
nsv609076 CNV gain+loss 21841781
nsv609075 CNV gain 21841781
nsv6016 CNV insertion 18451855
nsv6015 CNV deletion 18451855
nsv527276 CNV gain 19592680
nsv527203 CNV loss 19592680
nsv526720 CNV gain 19592680
nsv524774 CNV gain 19592680
nsv523054 CNV loss 19592680
nsv518759 CNV loss 19592680
nsv517537 CNV loss 19592680
nsv514460 CNV loss 21397061
nsv512005 CNV loss 21212237
nsv512004 CNV loss 21212237
nsv511372 CNV loss 21212237
nsv510122 OTHER sequence alteration 20534489
nsv509226 CNV insertion 20534489
nsv507428 OTHER sequence alteration 20534489
nsv483088 CNV loss 15286789
nsv481451 CNV novel sequence insertion 20440878
nsv481020 CNV novel sequence insertion 20440878
nsv479191 CNV novel sequence insertion 20440878
nsv471648 CNV gain+loss 15918152
nsv470400 CNV gain 18288195
nsv470399 CNV loss 18288195
nsv469546 CNV loss 16826518
nsv469536 CNV gain 16826518
nsv465238 CNV loss 19166990
nsv465236 CNV loss 19166990
nsv465231 CNV loss 19166990
nsv442256 CNV loss 18776908
nsv442079 CNV gain 18776908
nsv366921 CNV deletion 16902084
nsv366906 CNV deletion 16902084
nsv366762 CNV deletion 16902084
nsv366534 CNV insertion 16902084
nsv366340 CNV insertion 16902084
nsv366238 CNV deletion 16902084
nsv365937 CNV deletion 16902084
nsv365901 CNV deletion 16902084
nsv1161670 CNV deletion 26073780
nsv1161669 CNV duplication 26073780
nsv1152499 CNV duplication 26484159
nsv1152126 CNV deletion 26484159
nsv1151906 OTHER inversion 26484159
nsv1151324 CNV deletion 26484159
nsv1149578 CNV deletion 26484159
nsv1147954 CNV deletion 26484159
nsv1141837 CNV insertion 24896259
nsv1137311 CNV deletion 24896259
nsv1136660 CNV deletion 24896259
nsv1134904 CNV tandem duplication 24896259
nsv1132965 CNV insertion 24896259
nsv1132108 CNV deletion 24896259
nsv1132107 CNV deletion 24896259
nsv1126821 CNV deletion 24896259
nsv1126104 CNV deletion 24896259

Variation tolerance for DPP6 Gene

Gene Damage Index Score: 6.23; 76.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPP6 Gene

Human Gene Mutation Database (HGMD)
DPP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPP6 Gene

Disorders for DPP6 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DPP6 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 33
  • mrd33
ventricular fibrillation, paroxysmal familial, 2
  • familial paroxysmal ventricular fibrillation 2
autosomal dominant microcephaly
  • microcephaly autosomal dominant
idiopathic ventricular fibrillation, non brugada type
  • familial paroxysmal ventricular fibrillation, non brugada type
paroxysmal ventricular fibrillation
  • idiopathic ventricular fibrillation
- elite association - COSMIC cancer census association via MalaCards
Search DPP6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPP6_HUMAN
  • Familial paroxysmal ventricular fibrillation 2 (VF2) [MIM:612956]: A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. {ECO:0000269 PubMed:19285295}. Note=The disease is caused by mutations affecting the gene represented in this entry. A genetic variation 340 bases upstream from the ATG start site of the DPP6 gene is the cause of familial paroxysmal ventricular fibrillation type 2.
  • Mental retardation, autosomal dominant 33 (MRD33) [MIM:616311]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD33 patients manifest microcephaly and intellectual disability. {ECO:0000269 PubMed:23832105}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DPP6

Genetic Association Database (GAD)
DPP6
Human Genome Epidemiology (HuGE) Navigator
DPP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPP6
genes like me logo Genes that share disorders with DPP6: view

No data available for Genatlas for DPP6 Gene

Publications for DPP6 Gene

  1. Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S. … Hardiman O. (Eur. J. Hum. Genet. 2009) 3 22 46 64
  2. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. (PMID: 18084291) van Es M.A. … van den Berg L.H. (Nat. Genet. 2008) 3 4 46 64
  3. Modulation of Kv4.2 channel expression and gating by dipeptidyl peptidase 10 (DPP10). (PMID: 15454437) Jerng H.H. … Pfaffinger P.J. (Biophys. J. 2004) 3 4 22 64
  4. Structure of a human A-type potassium channel interacting protein DPPX, a member of the dipeptidyl aminopeptidase family. (PMID: 15476821) Strop P. … Brunger A.T. (J. Mol. Biol. 2004) 3 4 22 64
  5. Non-conservation of a catalytic residue in a dipeptidyl aminopeptidase IV-related protein encoded by a gene on human chromosome 7. (PMID: 8103397) Yokotani N. … Wada K. (Hum. Mol. Genet. 1993) 3 4 22 64

Products for DPP6 Gene

Sources for DPP6 Gene

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