Home
Search

Simple

Advanced

Syndromes

Chromosomal defects

Infertility phenotypes

Highthroughput dataset
Browse

Genes

Proteins

SNPs

References

GO

Diseases

Pathways

Tools

Orthologs

SNPs

Motif scan

STRING

CDART
BLAST

BLASTN

BLASTP
Analysis

Panther

Function

GO

Pathways

Diseases
  Help
Statistics
   About Us

Search Result


Gene id 139189
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol DGKK   Gene   UCSC   Ensembl
Gene name diacylglycerol kinase kappa
Alternate names diacylglycerol kinase kappa, 142 kDa diacylglycerol kinase, DAG kinase kappa, DGK-kappa, diglyceride kinase kappa,
Gene location Xp11.22 (50470850: 50365408)     Exons: 28     NC_000023.11
Gene summary(Entrez) The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hyposp
OMIM 300837

SNPs
rs11091748

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50414986A>C
NC_000023.11   g.50414986A>G
NC_000023.11   g.50414986A>T
NW_004070877.1   g.128101A>C
NW_004070877.1   g.128101A>G
NW_004070877.1   g.128101A>T
NG_033143.2   g.60737T>G
NG_033143.2   g.60737T>C
NG_033143.2   g.60737T>A
NC_000023.10   g.5015

rs12171755

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50436751C>G
NC_000023.11   g.50436751C>T
NW_004070877.1   g.149866C>G
NW_004070877.1   g.149866C>T
NG_033143.2   g.38972G>C
NG_033143.2   g.38972G>A
NC_000023.10   g.50179749C>G
NC_000023.10   g.50179749C>T|SEQ=[C/G/T]|GENE=DGKK

rs4143304

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50403572C>T
NW_004070877.1   g.116687C>T
NG_033143.2   g.72151G>A
NM_001013742.4   c.1104G>A
NM_001013742.3   c.1104G>A
NM_001013742.2   c.1104G>A
NC_000023.10   g.50146570C>T
XM_017029268.2   c.1104G>A|SEQ=[C/T]|GENE=DGKK

rs17328236

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50425211A>C
NC_000023.11   g.50425211A>G
NW_004070877.1   g.138326A>C
NW_004070877.1   g.138326A>G
NG_033143.2   g.50512T>G
NG_033143.2   g.50512T>C
NC_000023.10   g.50168209A>C
NC_000023.10   g.50168209A>G|SEQ=[A/C/G]|GENE=DGKK

rs1934179

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50439186G>A
NW_004070877.1   g.152301G>A
NG_033143.2   g.36537C>T
NC_000023.10   g.50182184G>A|SEQ=[G/A]|GENE=DGKK

rs4554617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50460404A>C
NW_004070877.1   g.173519A>C
NG_033143.2   g.15319T>G
NC_000023.10   g.50203402A>C|SEQ=[A/C]|GENE=DGKK

rs1934183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50438016A>C
NW_004070877.1   g.151131A>C
NG_033143.2   g.37707T>G
NC_000023.10   g.50181014A>C|SEQ=[A/C]|GENE=DGKK

rs2211122

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50459752T>C
NW_004070877.1   g.172867T>C
NG_033143.2   g.15971A>G
NC_000023.10   g.50202750T>C|SEQ=[T/C]|GENE=DGKK

rs9969978

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50425307G>C
NW_004070877.1   g.138422G>C
NG_033143.2   g.50416C>G
NC_000023.10   g.50168305G>C|SEQ=[G/C]|GENE=DGKK

rs1934188

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50406247G>A
NC_000023.11   g.50406247G>C
NW_004070877.1   g.119362G>A
NW_004070877.1   g.119362G>C
NG_033143.2   g.69476C>T
NG_033143.2   g.69476C>G
NC_000023.10   g.50149245G>A
NC_000023.10   g.50149245G>C|SEQ=[G/A/C]|GENE=DGKK

rs4826632

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50454263G>T
NW_004070877.1   g.167378G>T
NG_033143.2   g.21460C>A
NC_000023.10   g.50197261G>T|SEQ=[G/T]|GENE=DGKK

rs4599945

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50380968G>A
NC_000023.11   g.50380968G>T
NW_004070877.1   g.94083G>A
NW_004070877.1   g.94083G>T
NG_033143.2   g.94755C>T
NG_033143.2   g.94755C>A
NC_000023.10   g.50123966G>A
NC_000023.10   g.50123966G>T|SEQ=[G/A/T]|GENE=DGKK

rs4074319

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50376189G>A
NW_004070877.1   g.89304G>A
NG_033143.2   g.99534C>T
NC_000023.10   g.50119188G>A|SEQ=[G/A]|GENE=DGKK

rs7879090

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50376928A>G
NW_004070877.1   g.90043A>G
NG_033143.2   g.98795T>C
NC_000023.10   g.50119927A>G|SEQ=[A/G]|GENE=DGKK

rs5961179

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50386371A>G
NW_004070877.1   g.99486A>G
NG_033143.2   g.89352T>C
NM_001013742.4   c.2334T>C
NM_001013742.3   c.2334T>C
NM_001013742.2   c.2334T>C
NC_000023.10   g.50129369A>G
XM_017029268.2   c.2334T>C|SEQ=[A/G]|GENE=DGKK

rs7882950

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50386957C>T
NW_004070877.1   g.100072C>T
NG_033143.2   g.88766G>A
NC_000023.10   g.50129955C>T|SEQ=[C/T]|GENE=DGKK

rs12556919

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50388166A>G
NC_000023.11   g.50388166A>T
NW_004070877.1   g.101281A>G
NW_004070877.1   g.101281A>T
NG_033143.2   g.87557T>C
NG_033143.2   g.87557T>A
NC_000023.10   g.50131164A>G
NC_000023.10   g.50131164A>T|SEQ=[A/G/T]|GENE=DGKK

rs12012084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50390683A>C
NC_000023.11   g.50390683A>G
NW_004070877.1   g.103798A>C
NW_004070877.1   g.103798A>G
NG_033143.2   g.85040T>G
NG_033143.2   g.85040T>C
NC_000023.10   g.50133681A>C
NC_000023.10   g.50133681A>G|SEQ=[A/C/G]|GENE=DGKK

rs17003341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50391813C>T
NW_004070877.1   g.104928C>T
NG_033143.2   g.83910G>A
NC_000023.10   g.50134811C>T|SEQ=[C/T]|GENE=DGKK

rs1320573

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50397981C>T
NW_004070877.1   g.111096C>T
NG_033143.2   g.77742G>A
NC_000023.10   g.50140979C>T|SEQ=[C/T]|GENE=DGKK

rs17003346

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50400511A>G
NW_004070877.1   g.113626A>G
NG_033143.2   g.75212T>C
NC_000023.10   g.50143509A>G|SEQ=[A/G]|GENE=DGKK

rs1934190

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50400967G>A
NC_000023.11   g.50400967G>C
NC_000023.11   g.50400967G>T
NW_004070877.1   g.114082G>A
NW_004070877.1   g.114082G>C
NW_004070877.1   g.114082G>T
NG_033143.2   g.74756C>T
NG_033143.2   g.74756C>G
NG_033143.2   g.74756C>A
NC_000023.10   g.5014

rs17003348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50415123T>C
NW_004070877.1   g.128238T>C
NG_033143.2   g.60600A>G
NC_000023.10   g.50158121T>C|SEQ=[T/C]|GENE=DGKK

rs7888440

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50415792G>C
NW_004070877.1   g.128907G>C
NG_033143.2   g.59931C>G
NC_000023.10   g.50158790G>C|SEQ=[G/C]|GENE=DGKK

rs7877459

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50417673C>G
NW_004070877.1   g.130788C>G
NG_033143.2   g.58050G>C
NC_000023.10   g.50160671C>G|SEQ=[C/G]|GENE=DGKK

rs5961182

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50432873C>A
NC_000023.11   g.50432873C>G
NC_000023.11   g.50432873C>T
NW_004070877.1   g.145988C>A
NW_004070877.1   g.145988C>G
NW_004070877.1   g.145988C>T
NG_033143.2   g.42850G>T
NG_033143.2   g.42850G>C
NG_033143.2   g.42850G>A
NC_000023.10   g.5017

rs1934170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50439853G>A
NC_000023.11   g.50439853G>C
NW_004070877.1   g.152968G>A
NW_004070877.1   g.152968G>C
NG_033143.2   g.35870C>T
NG_033143.2   g.35870C>G
NC_000023.10   g.50182851G>A
NC_000023.10   g.50182851G>C|SEQ=[G/A/C]|GENE=DGKK

rs6614511

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50456494A>T
NW_004070877.1   g.169609A>T
NG_033143.2   g.19229T>A
NC_000023.10   g.50199492A>T|SEQ=[A/T]|GENE=DGKK

rs1934184

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50462117C>A
NC_000023.11   g.50462117C>T
NW_004070877.1   g.175232C>A
NW_004070877.1   g.175232C>T
NG_033143.2   g.13606G>T
NG_033143.2   g.13606G>A
NC_000023.10   g.50205115C>A
NC_000023.10   g.50205115C>T|SEQ=[C/A/T]|GENE=DGKK

rs5961183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50462757T>C
NW_004070877.1   g.175872T>C
NG_033143.2   g.12966A>G
NC_000023.10   g.50205755T>C|SEQ=[T/C]|GENE=DGKK

rs7876567

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50468742C>T
NW_004070877.1   g.181857C>T
NG_033143.2   g.6981G>A
NC_000023.10   g.50211741C>T|SEQ=[C/T]|GENE=DGKK

Protein Summary
Protein general information Q5KSL6  

Name: Diacylglycerol kinase kappa (DAG kinase kappa) (EC 2.7.1.107) (142 kDa diacylglycerol kinase) (Diglyceride kinase kappa) (DGK kappa)

Length: 1271  Mass: 141829

Tissue specificity: Expressed in testis, and to a lesser extent in placenta. {ECO

Sequence MDRGAAAAQGTAPPQDGEQPAESPEPPPPWPPPPPPPAPPPAPPLLSEASPEPIPEPCPELAPGPCPEATSESAT
ELYTEPTPEPATEPASEPAPEPATEPAPEPATEPAPEPAPEPATESAPEPTPEPALESVPEPAPELTPEVAPELA
PEPTPEPVTELAPEFCPEAAPEFRPSPAPCLLQCPVDTRERGLKTSPSPSPSPSPRTPMSWSRIKKILKEGPMLK
NCNSFKRWKLRYFLVQGQKLYFAHHPAFAHFETIDLSQATVAESSCRNLCHSFCVITPQRKITLAAPNRKDMEEW
INIIKTIQQGEIYKIPAAENNPFLVGMHCWYSSYSHRTQHCNVCRESIPALSRDAIICEVCKVKSHRLCALRASK
DCKWNTLSITDDLLLPADEVNMPHQWVEGNMPVSSQCAVCHESCGSYQRLQDFRCLWCNSTVHDDCRRRFSKECC
FRSHRSSVIPPTALSDPKGDGQLVVSSDFWNLDWSSACSCPLLIFINSKSGDHQGIVFLRKFKQYLNPSQVFDLL
KGGPEAGLSMFKNFARFRILVCGGDGSVSWVLSLIDAFGLHEKCQLAVIPLGTGNDLARVLGWGAFWNKSKSPLD
ILNRVEQASVRILDRWSVMIRETPRQTPLLKGQVEMDVPRFEAAAIQHLESAATELNKILKAKYPTEMIIATRFL
CSAVEDFVVDIVKAWGQIKQNNTAIVSVILKSDLMYDRLSVLIDVLAEEAAATSAEKSATEYADSSKADRKPFIP
QIDHIAKCKLELATKAQSLQKSLKLIIFQVEQALDEESRQTISVKNFSSTFFLEDDPEDINQTSPRRRSRRGTLS
SISSLKSEDLDNLNLDHLHFTPESIRFKEKCVMNNYFGIGLDAKISLDFNTRRDEHPGQYNSRLKNKMWYGLLGT
KELLQRSYRKLEERVHLECDGETISLPNLQGIVVLNITSYAGGINFWGSNTATTEYEAPAIDDGKLEVVAIFGSV
QMAMSRIINLHHHRIAQCHEVMITIDGEEGIPVQVDGEAWIQRPGLIKIRYKNAAQMLTRDRDFENSMKMWEYKH
TEIQAAPQPQLDFQDSQESLSDEEYAQMQHLARLAENLISKLNDLSKIHQHVSVLMGSVNASANILNDIFYGQDS
GNEMGAASCIPIETLSRNDAVDVTFSLKGLYDDTTAFLDEKLLRSAEDETALQSALDAMNKEFKKLSEIDWMNPI
FVPEEKSSDTDSRSLRLKIKFPKLGKKKVEEERKPKSGQSVQSFIGNLWHRRHREDEAEGDDPLTPSRSQL
Structural information
Protein Domains
 (216..30-)
(/note="PH-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
(487..62-)
(/note="DAGKc-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00783"-)
Interpro:  IPR017438  IPR037607  IPR000756  IPR001206  IPR016064  
IPR002219  IPR011993  IPR001849  
Prosite:   PS50146 PS50003 PS00479 PS50081
CDD:   cd00029
STRING:   ENSP00000477515
Other Databases GeneCards:  DGKK  Malacards:  DGKK

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0004143 diacylglycerol kinase act
ivity
 IDA molecular function
GO:0006979 response to oxidative str
ess
 IDA biological process
GO:0035556 intracellular signal tran
sduction
 IDA biological process
GO:0005886 plasma membrane
 IDA cellular component
GO:0046339 diacylglycerol metabolic
process
 IDA biological process
GO:0046834 lipid phosphorylation
 IBA biological process
GO:0046486 glycerolipid metabolic pr
ocess
 IBA biological process
GO:0046339 diacylglycerol metabolic
process
 IBA biological process
GO:0035556 intracellular signal tran
sduction
 IBA biological process
GO:0004143 diacylglycerol kinase act
ivity
 IBA molecular function
GO:0003951 NAD+ kinase activity
 IEA molecular function
GO:0004143 diacylglycerol kinase act
ivity
 IEA molecular function
GO:0007165 signal transduction
 IEA biological process
GO:0007205 protein kinase C-activati
ng G protein-coupled rece
ptor signaling pathway
 IEA biological process
GO:0016301 kinase activity
 IEA molecular function
GO:0035556 intracellular signal tran
sduction
 IEA biological process
GO:0016301 kinase activity
 IEA molecular function
GO:0046872 metal ion binding
 IEA molecular function
GO:0016740 transferase activity
 IEA molecular function
GO:0005524 ATP binding
 IEA molecular function
GO:0016020 membrane
 IEA cellular component
GO:0000166 nucleotide binding
 IEA molecular function
GO:0016310 phosphorylation
 IEA biological process
GO:0005737 cytoplasm
 IEA cellular component
GO:0004143 diacylglycerol kinase act
ivity
 IEA molecular function
GO:0005886 plasma membrane
 TAS cellular component
GO:0030168 platelet activation
 TAS biological process
GO:0016020 membrane
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa01100Metabolic pathways
hsa04072Phospholipase D signaling pathway
hsa04070Phosphatidylinositol signaling system
hsa00564Glycerophospholipid metabolism
hsa05231Choline metabolism in cancer
hsa00561Glycerolipid metabolism

Diseases

Expand All | Collapse All
Associated diseases References
Hypospadias MIK: 21113153

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28597849 Hypospadia
s
 rs2211122, rs4554617, rs7058226, rs7063116, and rs5915254 Chinese
 1330(322 cases
(58 mild, 113 m
oderate, 128 se
vere, and 23 un
known) and 1008
controls)
 Male infertility NGS
 Show abstract
21113153 Hypospadia
s
 rs1934179 and rs7063116 Europea
n, Dutc
h, Swed
ish
 1731 (436 indiv
iduals with hyp
ospadias (cases
), 494 controls
, 133 cases and
their parents,
and a Swedish
series of 266 c
ases and 402 co
ntrols)
 Male infertility
Show abstract
23177175 Hypospadia
s
 rs4074319, rs7879090, rs5961179, rs7882950, rs12556919, rs12012084, rs17003341, rs1320573, rs17003346, rs1934190, rs4143304, rs1934188, rs17003348 , rs7888440, rs7877459, rs17328236, rs9969978, rs5961182 , rs12171755, rs1934183, rs1934170, rs1934179, rs
1597 (930 contr
ols, 667 cases)
 Male infertility
Show abstract
25108383 Hypospadia
s
 rs4554617
1,006 boys who
underwent surge
ry for hypospad
ias and 5,486 i
ndividuals (2,3
90 males and 3,
096 females)
 Male infertility GWAS
 Show abstract