DLG4 (discs large MAGUK scaffold protein 4) - Rat Genome Database

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Gene: DLG4 (discs large MAGUK scaffold protein 4) Homo sapiens
Analyze
Symbol: DLG4
Name: discs large MAGUK scaffold protein 4
RGD ID: 68630
HGNC Page HGNC
Description: Exhibits kinase binding activity and protein C-terminus binding activity. Involved in establishment of protein localization; protein localization to synapse; and protein-containing complex assembly. Localizes to cortical cytoskeleton and postsynaptic membrane. Predicted to colocalize with ionotropic glutamate receptor complex and voltage-gated potassium channel complex. Implicated in autosomal dominant non-syndromic intellectual disability. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: discs large homolog 4; discs, large homolog 4; disks large homolog 4; FLJ97752; FLJ98574; MRD62; post-synaptic density protein 95; postsynaptic density protein 95; PSD95; SAP-90; SAP90; synapse-associated protein 90; Tax interaction protein 15
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,187,187 - 7,219,841 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl177,187,169 - 7,219,841 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl177,189,890 - 7,219,841 (-)EnsemblGRCh38hg38GRCh38
GRCh38177,187,187 - 7,220,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,090,506 - 7,123,369 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,033,933 - 7,063,781 (-)NCBINCBI36hg18NCBI36
Build 34177,033,935 - 7,063,745NCBI
Celera177,117,875 - 7,148,003 (-)NCBI
Cytogenetic Map17p13.1NCBI
HuRef176,984,911 - 7,015,359 (-)NCBIHuRef
CHM1_1177,102,006 - 7,132,134 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-vinylcyclohexene dioxide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
agomelatine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
androgen antagonist  (ISO)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
Butylparaben  (ISO)
cannabidiol  (EXP,ISO)
chaetocin  (ISO)
chlorohydrocarbon  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
citric acid  (ISO)
cocaine  (ISO)
curcumin  (ISO)
cyhalothrin  (ISO)
DDE  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fisetin  (ISO)
fluoranthene  (ISO)
fulvestrant  (ISO)
glutathione  (EXP)
hexachlorophene  (ISO)
ibuprofen  (ISO)
indometacin  (EXP)
isoflurane  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
LY294002  (ISO)
memantine  (ISO)
methoxychlor  (ISO)
morphine  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nicotine  (ISO)
oxidopamine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
resveratrol  (ISO)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
SB 431542  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (EXP,ISO)
streptozocin  (ISO)
sulfur dioxide  (ISO)
sunitinib  (EXP)
thapsigargin  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7477295   PMID:7569905   PMID:8601796   PMID:8615909   PMID:8625413   PMID:8665664   PMID:8755482   PMID:8938729   PMID:9009191   PMID:9024696   PMID:9115257   PMID:9148889  
PMID:9182804   PMID:9278515   PMID:9286702   PMID:9286858   PMID:9326658   PMID:9430700   PMID:9459447   PMID:9481670   PMID:9482110   PMID:9502803   PMID:9581761   PMID:9581762  
PMID:9756850   PMID:9786987   PMID:9808460   PMID:9853749   PMID:9870942   PMID:9892651   PMID:10026200   PMID:10207009   PMID:10336672   PMID:10341223   PMID:10364559   PMID:10373510  
PMID:10433268   PMID:10488080   PMID:10521598   PMID:10527873   PMID:10595517   PMID:10627592   PMID:10648730   PMID:10725395   PMID:10827173   PMID:10839362   PMID:10844022   PMID:10859302  
PMID:10939335   PMID:10958799   PMID:10995758   PMID:11029657   PMID:11060025   PMID:11134026   PMID:11140673   PMID:11152698   PMID:11222640   PMID:11274188   PMID:11276111   PMID:11279080  
PMID:11279111   PMID:11319238   PMID:11368788   PMID:11440998   PMID:11483650   PMID:11502259   PMID:11506858   PMID:11526121   PMID:11572861   PMID:11679592   PMID:11714708   PMID:11723117  
PMID:11744724   PMID:11805122   PMID:11925566   PMID:11937501   PMID:11997254   PMID:12006486   PMID:12067714   PMID:12068077   PMID:12097473   PMID:12151521   PMID:12359873   PMID:12390249  
PMID:12419528   PMID:12435606   PMID:12438413   PMID:12477932   PMID:12531901   PMID:12576483   PMID:12586822   PMID:12597860   PMID:12609736   PMID:12675619   PMID:12682061   PMID:12713445  
PMID:12716924   PMID:12738960   PMID:12815021   PMID:12860415   PMID:12950712   PMID:14622581   PMID:14732708   PMID:14760703   PMID:14960569   PMID:15024025   PMID:15030493   PMID:15255944  
PMID:15317815   PMID:15342556   PMID:15458844   PMID:15494726   PMID:15496675   PMID:15603740   PMID:15673434   PMID:15978582   PMID:16316992   PMID:16332682   PMID:16344560   PMID:16466689  
PMID:16473877   PMID:16530958   PMID:16637659   PMID:16767099   PMID:16828986   PMID:16964398   PMID:16990550   PMID:16990791   PMID:16990796   PMID:17018285   PMID:17093888   PMID:17164261  
PMID:17360663   PMID:17443799   PMID:17459877   PMID:17474147   PMID:17474715   PMID:17506933   PMID:17526495   PMID:17672918   PMID:17854350   PMID:17916412   PMID:18067320   PMID:18155796  
PMID:18308477   PMID:18311135   PMID:18400955   PMID:18424056   PMID:18570704   PMID:19017653   PMID:19036954   PMID:19118189   PMID:19243221   PMID:19274064   PMID:19322201   PMID:19483657  
PMID:19726651   PMID:19774677   PMID:19913121   PMID:19914352   PMID:20018661   PMID:20201926   PMID:20628086   PMID:20921115   PMID:20962234   PMID:21119615   PMID:21145461   PMID:21151988  
PMID:21670103   PMID:21726550   PMID:21756874   PMID:21849550   PMID:21873635   PMID:21965656   PMID:22001757   PMID:22117215   PMID:22375001   PMID:22479202   PMID:22673509   PMID:22709448  
PMID:22745667   PMID:22807451   PMID:22809504   PMID:22843680   PMID:23044706   PMID:23183381   PMID:23260144   PMID:23394112   PMID:23576434   PMID:23691031   PMID:23782696   PMID:23921260  
PMID:23936182   PMID:24097068   PMID:24491052   PMID:24513855   PMID:25104558   PMID:25406362   PMID:25410733   PMID:25585032   PMID:25658767   PMID:25678324   PMID:25780553   PMID:25849917  
PMID:26013316   PMID:26053890   PMID:26760575   PMID:26898829   PMID:27066583   PMID:27072977   PMID:27271353   PMID:27300007   PMID:27330081   PMID:27457929   PMID:27661418   PMID:27956638  
PMID:28645745   PMID:28675297   PMID:28692247   PMID:28874660   PMID:28973854   PMID:28974728   PMID:29460436   PMID:29791485   PMID:30021884   PMID:30726710   PMID:30864948   PMID:30988255  
PMID:31112584   PMID:31562775   PMID:31753913   PMID:31831623   PMID:32580088  


Genomics

Comparative Map Data
DLG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,187,187 - 7,219,841 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl177,187,169 - 7,219,841 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl177,189,890 - 7,219,841 (-)EnsemblGRCh38hg38GRCh38
GRCh38177,187,187 - 7,220,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,090,506 - 7,123,369 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,033,933 - 7,063,781 (-)NCBINCBI36hg18NCBI36
Build 34177,033,935 - 7,063,745NCBI
Celera177,117,875 - 7,148,003 (-)NCBI
Cytogenetic Map17p13.1NCBI
HuRef176,984,911 - 7,015,359 (-)NCBIHuRef
CHM1_1177,102,006 - 7,132,134 (-)NCBICHM1_1
Dlg4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,908,029 - 69,938,107 (+)NCBIGRCm39mm39
GRCm39 Ensembl1169,907,768 - 69,938,348 (+)Ensembl
GRCm381170,017,203 - 70,045,535 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,016,942 - 70,047,522 (+)EnsemblGRCm38mm10GRCm38
MGSCv371169,832,107 - 69,859,034 (+)NCBIGRCm37mm9NCBIm37
MGSCv361169,835,059 - 69,860,963 (+)NCBImm8
Celera1177,566,529 - 77,594,216 (+)NCBICelera
Cytogenetic Map11B3NCBI
Dlg4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21054,740,700 - 54,769,097 (+)NCBI
Rnor_6.0 Ensembl1056,627,411 - 56,653,599 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01056,625,845 - 56,655,543 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01056,369,703 - 56,400,662 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,864,459 - 56,890,626 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11056,878,081 - 56,904,246 (+)NCBI
Celera1053,894,685 - 53,920,691 (+)NCBICelera
Cytogenetic Map10q24NCBI
Dlg4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,690,469 - 9,715,872 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,691,733 - 9,715,872 (+)NCBIChiLan1.0ChiLan1.0
DLG4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1177,207,483 - 7,236,000 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,207,483 - 7,235,985 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0177,219,911 - 7,247,509 (-)NCBIMhudiblu_PPA_v0panPan3
DLG4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,165,399 - 32,175,600 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,163,594 - 32,188,126 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,303,501 - 32,327,281 (-)NCBI
ROS_Cfam_1.0532,271,402 - 32,294,586 (-)NCBI
UMICH_Zoey_3.1532,236,680 - 32,259,896 (-)NCBI
UNSW_CanFamBas_1.0532,195,151 - 32,218,943 (-)NCBI
UU_Cfam_GSD_1.0532,372,643 - 32,395,864 (-)NCBI
Dlg4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,013,899 - 47,039,640 (-)NCBI
SpeTri2.0NW_004936595487,918 - 513,843 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DLG4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,550,141 - 52,575,156 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,550,138 - 52,574,021 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23139,824,633 - 139,849,233 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DLG4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,562,953 - 6,592,247 (-)NCBI
ChlSab1.1 Ensembl166,562,691 - 6,590,867 (-)Ensembl
Dlg4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247869,811,201 - 9,835,660 (-)NCBI

Position Markers
DLG4_4191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,093,202 - 7,093,913UniSTSGRCh37
Build 36177,033,926 - 7,034,637RGDNCBI36
Celera177,117,868 - 7,118,578RGD
HuRef176,984,904 - 6,985,615UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3478
Count of miRNA genes:882
Interacting mature miRNAs:1069
Transcripts:ENST00000302955, ENST00000399506, ENST00000399510, ENST00000447163, ENST00000451807, ENST00000485100, ENST00000486626, ENST00000489885, ENST00000491753, ENST00000493294
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1646 1197 1156 36 443 13 1349 924 3528 100 1252 1273 26 667 784 1
Low 771 1786 567 585 1461 450 3004 1268 190 310 193 331 144 537 2004 2
Below cutoff 15 2 1 1 41 1 2 1 9 8 6 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA954439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC120057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF028825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF156495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI571947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG059570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP213421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB064366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC336011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U68138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302955   ⟹   ENSP00000307471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,189,890 - 7,217,609 (-)Ensembl
RefSeq Acc Id: ENST00000399506   ⟹   ENSP00000382425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,187,187 - 7,217,627 (-)Ensembl
RefSeq Acc Id: ENST00000399510   ⟹   ENSP00000382428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,189,890 - 7,219,836 (-)Ensembl
RefSeq Acc Id: ENST00000447163   ⟹   ENSP00000388122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,203,199 - 7,217,206 (-)Ensembl
RefSeq Acc Id: ENST00000451807   ⟹   ENSP00000407918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,197,028 - 7,204,836 (-)Ensembl
RefSeq Acc Id: ENST00000485100   ⟹   ENSP00000460625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,202,718 - 7,217,188 (-)Ensembl
RefSeq Acc Id: ENST00000486626   ⟹   ENSP00000465720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,202,916 - 7,204,502 (-)Ensembl
RefSeq Acc Id: ENST00000489885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,189,890 - 7,192,235 (-)Ensembl
RefSeq Acc Id: ENST00000491753   ⟹   ENSP00000467897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,190,286 - 7,219,738 (-)Ensembl
RefSeq Acc Id: ENST00000493294   ⟹   ENSP00000465789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,202,981 - 7,204,934 (-)Ensembl
RefSeq Acc Id: ENST00000647975   ⟹   ENSP00000497912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,202,764 - 7,217,233 (-)Ensembl
RefSeq Acc Id: ENST00000648103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,190,798 - 7,196,809 (-)Ensembl
RefSeq Acc Id: ENST00000648172   ⟹   ENSP00000497806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,189,890 - 7,219,841 (-)Ensembl
RefSeq Acc Id: ENST00000648263   ⟹   ENSP00000498035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,193,534 - 7,204,635 (-)Ensembl
RefSeq Acc Id: ENST00000648658   ⟹   ENSP00000496903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,203,552 - 7,211,833 (-)Ensembl
RefSeq Acc Id: ENST00000648707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,190,561 - 7,218,305 (-)Ensembl
RefSeq Acc Id: ENST00000648760   ⟹   ENSP00000497462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,203,692 - 7,208,342 (-)Ensembl
RefSeq Acc Id: ENST00000648896   ⟹   ENSP00000497546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,190,675 - 7,213,912 (-)Ensembl
RefSeq Acc Id: ENST00000649186   ⟹   ENSP00000497879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,190,582 - 7,205,168 (-)Ensembl
RefSeq Acc Id: ENST00000649514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,190,612 - 7,192,210 (-)Ensembl
RefSeq Acc Id: ENST00000649520   ⟹   ENSP00000497647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,189,895 - 7,205,130 (-)Ensembl
RefSeq Acc Id: ENST00000649971   ⟹   ENSP00000497011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,190,563 - 7,207,295 (-)Ensembl
RefSeq Acc Id: ENST00000650120   ⟹   ENSP00000497553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,191,928 - 7,208,338 (-)Ensembl
RefSeq Acc Id: ENST00000650301   ⟹   ENSP00000497662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,203,802 - 7,207,340 (-)Ensembl
RefSeq Acc Id: NM_001128827   ⟹   NP_001122299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,187,187 - 7,217,627 (-)NCBI
GRCh37177,093,209 - 7,123,369 (-)ENTREZGENE
HuRef176,984,911 - 7,015,359 (-)ENTREZGENE
CHM1_1177,102,006 - 7,129,713 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321074   ⟹   NP_001308003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,220,050 (-)NCBI
CHM1_1177,102,006 - 7,132,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321075   ⟹   NP_001308004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,187,187 - 7,217,627 (-)NCBI
CHM1_1177,102,006 - 7,129,713 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321076   ⟹   NP_001308005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,187,187 - 7,205,187 (-)NCBI
CHM1_1177,102,006 - 7,117,274 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321077   ⟹   NP_001308006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,187,187 - 7,205,187 (-)NCBI
CHM1_1177,102,006 - 7,117,274 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365   ⟹   NP_001356
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,220,050 (-)NCBI
GRCh37177,093,209 - 7,123,369 (-)ENTREZGENE
Build 36177,033,933 - 7,063,781 (-)NCBI Archive
HuRef176,984,911 - 7,015,359 (-)ENTREZGENE
CHM1_1177,102,006 - 7,132,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369566   ⟹   NP_001356495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,187,187 - 7,207,271 (-)NCBI
RefSeq Acc Id: NR_135527
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,220,050 (-)NCBI
CHM1_1177,102,006 - 7,132,134 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005256491   ⟹   XP_005256548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,217,629 (-)NCBI
GRCh37177,093,209 - 7,123,369 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523699   ⟹   XP_011522001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,219,820 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523702   ⟹   XP_011522004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,208,167 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024288   ⟹   XP_016879777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,217,621 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024289   ⟹   XP_016879778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,217,621 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450629   ⟹   XP_024306397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,189,890 - 7,211,681 (-)NCBI
Sequence:
RefSeq Acc Id: XR_934005
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,190,643 - 7,219,842 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001122299 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308003 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308005 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308006 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356495 (Get FASTA)   NCBI Sequence Viewer  
  XP_005256548 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522001 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522004 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879777 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879778 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306397 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB07736 (Get FASTA)   NCBI Sequence Viewer  
  AAB84250 (Get FASTA)   NCBI Sequence Viewer  
  AAC52113 (Get FASTA)   NCBI Sequence Viewer  
  AAD56173 (Get FASTA)   NCBI Sequence Viewer  
  AAH40533 (Get FASTA)   NCBI Sequence Viewer  
  AAI36554 (Get FASTA)   NCBI Sequence Viewer  
  BAH11607 (Get FASTA)   NCBI Sequence Viewer  
  BAH12328 (Get FASTA)   NCBI Sequence Viewer  
  BAH12558 (Get FASTA)   NCBI Sequence Viewer  
  BAH13133 (Get FASTA)   NCBI Sequence Viewer  
  BAH14467 (Get FASTA)   NCBI Sequence Viewer  
  EAW90251 (Get FASTA)   NCBI Sequence Viewer  
  EAW90252 (Get FASTA)   NCBI Sequence Viewer  
  EAW90253 (Get FASTA)   NCBI Sequence Viewer  
  EAW90254 (Get FASTA)   NCBI Sequence Viewer  
  EAW90255 (Get FASTA)   NCBI Sequence Viewer  
  P78352 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001356   ⟸   NM_001365
- Peptide Label: isoform 1 precursor
- UniProtKB: P78352 (UniProtKB/Swiss-Prot),   B7Z647 (UniProtKB/TrEMBL),   B9EGL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001122299   ⟸   NM_001128827
- Peptide Label: isoform 2
- UniProtKB: P78352 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005256548   ⟸   XM_005256491
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011522001   ⟸   XM_011523699
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011522004   ⟸   XM_011523702
- Peptide Label: isoform X7
- UniProtKB: B7Z647 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308003   ⟸   NM_001321074
- Peptide Label: isoform 3 precursor
- UniProtKB: B9EGL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308004   ⟸   NM_001321075
- Peptide Label: isoform 4
- UniProtKB: P78352 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308006   ⟸   NM_001321077
- Peptide Label: isoform 5
- UniProtKB: B7Z4H2 (UniProtKB/TrEMBL),   B7Z647 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308005   ⟸   NM_001321076
- Peptide Label: isoform 5
- UniProtKB: B7Z647 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879778   ⟸   XM_017024289
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016879777   ⟸   XM_017024288
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024306397   ⟸   XM_024450629
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001356495   ⟸   NM_001369566
- Peptide Label: isoform 6
RefSeq Acc Id: ENSP00000497806   ⟸   ENST00000648172
RefSeq Acc Id: ENSP00000496903   ⟸   ENST00000648658
RefSeq Acc Id: ENSP00000498035   ⟸   ENST00000648263
RefSeq Acc Id: ENSP00000497546   ⟸   ENST00000648896
RefSeq Acc Id: ENSP00000497462   ⟸   ENST00000648760
RefSeq Acc Id: ENSP00000497647   ⟸   ENST00000649520
RefSeq Acc Id: ENSP00000497879   ⟸   ENST00000649186
RefSeq Acc Id: ENSP00000497011   ⟸   ENST00000649971
RefSeq Acc Id: ENSP00000382425   ⟸   ENST00000399506
RefSeq Acc Id: ENSP00000382428   ⟸   ENST00000399510
RefSeq Acc Id: ENSP00000407918   ⟸   ENST00000451807
RefSeq Acc Id: ENSP00000467897   ⟸   ENST00000491753
RefSeq Acc Id: ENSP00000465789   ⟸   ENST00000493294
RefSeq Acc Id: ENSP00000497662   ⟸   ENST00000650301
RefSeq Acc Id: ENSP00000497553   ⟸   ENST00000650120
RefSeq Acc Id: ENSP00000460625   ⟸   ENST00000485100
RefSeq Acc Id: ENSP00000465720   ⟸   ENST00000486626
RefSeq Acc Id: ENSP00000388122   ⟸   ENST00000447163
RefSeq Acc Id: ENSP00000307471   ⟸   ENST00000302955
RefSeq Acc Id: ENSP00000497912   ⟸   ENST00000647975
Protein Domains
Guanylate kinase-like   MAGUK_N_PEST   PDZ   SH3

Promoters
RGD ID:6793950
Promoter ID:HG_KWN:24848
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259425,   OTTHUMT00000259426,   OTTHUMT00000259427
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,048,956 - 7,049,456 (-)MPROMDB
RGD ID:6793948
Promoter ID:HG_KWN:24849
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:OTTHUMT00000259423
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,058,211 - 7,058,711 (-)MPROMDB
RGD ID:6793954
Promoter ID:HG_KWN:24850
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000302955,   ENST00000380912,   ENST00000399506,   OTTHUMT00000259424,   UC002GEU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,061,586 - 7,062,086 (-)MPROMDB
RGD ID:6793947
Promoter ID:HG_KWN:24852
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000293813,   ENST00000356839,   NM_001033859,   UC002GET.2,   UC002GEX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,063,496 - 7,064,077 (-)MPROMDB
RGD ID:6794019
Promoter ID:HG_KWN:24851
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:ENST00000399510
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,064,211 - 7,064,711 (-)MPROMDB
RGD ID:7233641
Promoter ID:EPDNEW_H22565
Type:initiation region
Name:DLG4_3
Description:discs large MAGUK scaffold protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22566  EPDNEW_H22568  EPDNEW_H22567  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,192,314 - 7,192,374EPDNEW
RGD ID:7233639
Promoter ID:EPDNEW_H22566
Type:initiation region
Name:DLG4_1
Description:discs large MAGUK scaffold protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22565  EPDNEW_H22568  EPDNEW_H22567  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,217,227 - 7,217,287EPDNEW
RGD ID:7233645
Promoter ID:EPDNEW_H22567
Type:initiation region
Name:DLG4_4
Description:discs large MAGUK scaffold protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22566  EPDNEW_H22565  EPDNEW_H22568  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,218,863 - 7,218,923EPDNEW
RGD ID:7233643
Promoter ID:EPDNEW_H22568
Type:initiation region
Name:DLG4_2
Description:discs large MAGUK scaffold protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22566  EPDNEW_H22565  EPDNEW_H22567  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,219,731 - 7,219,791EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001365.4(DLG4):c.1283del (p.Thr428fs) deletion not provided [RCV000627488] Chr17:7196505 [GRCh38]
Chr17:7099824 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000018.4(ACADVL):c.-11G>T single nucleotide variant not provided [RCV000729633] Chr17:7219974 [GRCh38]
Chr17:7123293 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 copy number loss See cases [RCV000053425] Chr17:7210345..7496934 [GRCh38]
Chr17:7113664..7400253 [GRCh37]
Chr17:7054388..7340977 [NCBI36]
Chr17:17p13.1
pathogenic
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000020078]|not provided [RCV000224359]|not specified [RCV000251701] Chr17:7220033 [GRCh38]
Chr17:7123352 [GRCh37]
Chr17:17p13.1
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1
likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3 copy number gain See cases [RCV000139216] Chr17:6891357..7264234 [GRCh38]
Chr17:6794676..7167553 [GRCh37]
Chr17:6735400..7108277 [NCBI36]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
NM_001365.4(DLG4):c.-1087_-1073dup duplication Very long chain acyl-CoA dehydrogenase deficiency [RCV000335414]|not specified [RCV000152731] Chr17:7219921..7219922 [GRCh38]
Chr17:7123240..7123241 [GRCh37]
Chr17:17p13.1
benign
NM_001365.4(DLG4):c.159+502T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157090]|Very long chain acyl-CoA dehydrogenase deficiency [RCV000666003] Chr17:7217739 [GRCh38]
Chr17:7121058 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3 copy number gain Ductal breast carcinoma [RCV000207224] Chr17:7120452..7165252 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3 copy number gain Ductal breast carcinoma [RCV000207305] Chr17:7121580..7186623 [GRCh37]
Chr17:17p13.1
likely pathogenic|uncertain significance
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) duplication Cerebral visual impairment and intellectual disability [RCV000210399]|Intellectual developmental disorder 62 [RCV001004848] Chr17:7204200..7204201 [GRCh38]
Chr17:7107519..7107520 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic
NM_001365.4(DLG4):c.-1073_-1072insGCATCCTGCACGCCC insertion Very long chain acyl-CoA dehydrogenase deficiency [RCV000670373] Chr17:7219921..7219922 [GRCh38]
Chr17:7123240..7123241 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.-1072A>G single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000299039] Chr17:7219921 [GRCh38]
Chr17:7123240 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000018.4(ACADVL):c.-36A>G single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000398787]|not specified [RCV000434907] Chr17:7219949 [GRCh38]
Chr17:7123268 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001365.4(DLG4):c.1213-10C>G single nucleotide variant not specified [RCV000602835] Chr17:7196585 [GRCh38]
Chr17:7099904 [GRCh37]
Chr17:17p13.1
likely benign
NM_001365.4(DLG4):c.-1004G>A single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000400753] Chr17:7219853 [GRCh38]
Chr17:7123172 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000018.4(ACADVL):c.54G>A (p.Gly18=) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000533108] Chr17:7220038 [GRCh38]
Chr17:7123357 [GRCh37]
Chr17:17p13.1
likely benign
NM_001365.4(DLG4):c.734del (p.Lys245fs) deletion not provided [RCV000487154] Chr17:7203230 [GRCh38]
Chr17:7106549 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss PARP Inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1
drug response
NM_001365.4(DLG4):c.635-12C>G single nucleotide variant not specified [RCV000610315] Chr17:7203341 [GRCh38]
Chr17:7106660 [GRCh37]
Chr17:17p13.1
likely benign
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 copy number loss See cases [RCV000512276] Chr17:7094070..7414448 [GRCh37]
Chr17:17p13.1
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000018.4(ACADVL):c.33del (p.Arg12fs) deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV000673805] Chr17:7220014 [GRCh38]
Chr17:7123333 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_001365.4(DLG4):c.-1065_-1064insCACGCCCGCGTCCTG insertion Very long chain acyl-CoA dehydrogenase deficiency [RCV000668084] Chr17:7219913..7219914 [GRCh38]
Chr17:7123232..7123233 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.-1073_-1072insGCGTGCCCGCGTCCTGCACGCCC insertion Very long chain acyl-CoA dehydrogenase deficiency [RCV000671629] Chr17:7219921..7219922 [GRCh38]
Chr17:7123240..7123241 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.159+465C>T single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000668479] Chr17:7217776 [GRCh38]
Chr17:7121095 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.-1088_-1087insACGTCCTGCACGCCC insertion Very long chain acyl-CoA dehydrogenase deficiency [RCV000668563] Chr17:7219936..7219937 [GRCh38]
Chr17:7123255..7123256 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.159+489GCTTCT[3] microsatellite Very long chain acyl-CoA dehydrogenase deficiency [RCV000665391] Chr17:7217740..7217741 [GRCh38]
Chr17:7121059..7121060 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.-1074_-1073insGGCGTCCTGCACGCCCGCGTCCTGCACGCC insertion Very long chain acyl-CoA dehydrogenase deficiency [RCV000667551] Chr17:7219922..7219923 [GRCh38]
Chr17:7123241..7123242 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000671153] Chr17:7219987 [GRCh38]
Chr17:7123306 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_001365.4(DLG4):c.159+439_159+444dup duplication Very long chain acyl-CoA dehydrogenase deficiency [RCV000664571] Chr17:7217796..7217797 [GRCh38]
Chr17:7121115..7121116 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.-1065_-1064insCACGCCCACGTCCTC insertion Very long chain acyl-CoA dehydrogenase deficiency [RCV000668330] Chr17:7219913..7219914 [GRCh38]
Chr17:7123232..7123233 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.-1073_-1072insGCGTCCTGCACGCCCACGTCCTGCACGCCC insertion Very long chain acyl-CoA dehydrogenase deficiency [RCV000674467] Chr17:7219921..7219922 [GRCh38]
Chr17:7123240..7123241 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.159+472G>A single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000673132] Chr17:7217769 [GRCh38]
Chr17:7121088 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.159+435_159+439del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV000673163] Chr17:7217802..7217806 [GRCh38]
Chr17:7121121..7121125 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.159+487G>A single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000665785] Chr17:7217754 [GRCh38]
Chr17:7121073 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.159+1067C>T single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV000673715] Chr17:7217174 [GRCh38]
Chr17:7120493 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000018.4(ACADVL):c.16_32del (p.Met6fs) deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV000667776] Chr17:7219998..7220014 [GRCh38]
Chr17:7123317..7123333 [GRCh37]
Chr17:17p13.1
likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.1(chr17:7013365-7265208)x1 copy number loss not provided [RCV000739389] Chr17:7013365..7265208 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.1618C>T (p.Arg540Ter) single nucleotide variant not provided [RCV000760337] Chr17:7193990 [GRCh38]
Chr17:7097309 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001365.4(DLG4):c.1249C>T (p.Gln417Ter) single nucleotide variant not provided [RCV000760779] Chr17:7196539 [GRCh38]
Chr17:7099858 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001321075.3(DLG4):c.1893G>A (p.Ser631=) single nucleotide variant not provided [RCV000921928] Chr17:7191976 [GRCh38]
Chr17:7095295 [GRCh37]
Chr17:17p13.1
likely benign
NM_001321075.3(DLG4):c.1539G>A (p.Ser513=) single nucleotide variant not provided [RCV000898760] Chr17:7193848 [GRCh38]
Chr17:7097167 [GRCh37]
Chr17:17p13.1
likely benign
NM_001321075.3(DLG4):c.1317C>T (p.Tyr439=) single nucleotide variant not provided [RCV000927568] Chr17:7194480 [GRCh38]
Chr17:7097799 [GRCh37]
Chr17:17p13.1
likely benign
GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1 copy number loss not provided [RCV001006866] Chr17:6800893..7304696 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001321075.3(DLG4):c.396G>A (p.Ala132=) single nucleotide variant not provided [RCV000922421] Chr17:7203533 [GRCh38]
Chr17:7106852 [GRCh37]
Chr17:17p13.1
likely benign
NM_001321075.3(DLG4):c.2139C>G (p.Gly713=) single nucleotide variant not provided [RCV000927308] Chr17:7190744 [GRCh38]
Chr17:7094063 [GRCh37]
Chr17:17p13.1
likely benign
NM_001321075.3(DLG4):c.1740C>T (p.Tyr580=) single nucleotide variant not provided [RCV000960076] Chr17:7193071 [GRCh38]
Chr17:7096390 [GRCh37]
Chr17:17p13.1
benign
GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3 copy number gain not provided [RCV000849961] Chr17:6826243..7311408 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.1843del (p.Glu615fs) deletion Intellectual developmental disorder 62 [RCV001004851]|Marfanoid habitus and intellectual disability [RCV000850477] Chr17:7193097 [GRCh38]
Chr17:7096416 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable agammaglobulinemia [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001321075.3(DLG4):c.990C>T (p.Gly330=) single nucleotide variant not provided [RCV001090637] Chr17:7196850 [GRCh38]
Chr17:7100169 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001365.4(DLG4):c.1147_1154del (p.Phe383fs) deletion Intellectual developmental disorder 62 [RCV001004852]|Marfanoid habitus and intellectual disability [RCV000850478] Chr17:7196815..7196822 [GRCh38]
Chr17:7100134..7100141 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic
NM_001365.4(DLG4):c.1672+2T>C single nucleotide variant Intellectual developmental disorder 62 [RCV001004853]|Marfanoid habitus and intellectual disability [RCV000850484] Chr17:7193842 [GRCh38]
Chr17:7097161 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic
NM_001321075.3(DLG4):c.525dup (p.Gly176fs) duplication not provided [RCV001008151] Chr17:7203309..7203310 [GRCh38]
Chr17:7106628..7106629 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001321075.3(DLG4):c.1292del (p.Phe431fs) deletion not provided [RCV001008937] Chr17:7196229 [GRCh38]
Chr17:7099548 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001321075.3(DLG4):c.459C>T (p.Pro153=) single nucleotide variant not provided [RCV000909909] Chr17:7203470 [GRCh38]
Chr17:7106789 [GRCh37]
Chr17:17p13.1
benign
NM_001321075.3(DLG4):c.2152G>A (p.Val718Ile) single nucleotide variant not provided [RCV000955001] Chr17:7190731 [GRCh38]
Chr17:7094050 [GRCh37]
Chr17:17p13.1
likely benign
NM_000018.4(ACADVL):c.62+1G>A single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV001236568] Chr17:7220047 [GRCh38]
Chr17:7123366 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_001321075.3(DLG4):c.210+1G>T single nucleotide variant not provided [RCV001057454] Chr17:7204007 [GRCh38]
Chr17:7107326 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_001321075.3(DLG4):c.1974G>A (p.Val658=) single nucleotide variant not provided [RCV000913706] Chr17:7191895 [GRCh38]
Chr17:7095214 [GRCh37]
Chr17:17p13.1
likely benign
NM_001321075.3(DLG4):c.906C>T (p.Leu302=) single nucleotide variant not provided [RCV000911877] Chr17:7196934 [GRCh38]
Chr17:7100253 [GRCh37]
Chr17:17p13.1
likely benign
NM_001321075.3(DLG4):c.326del (p.Gly109fs) deletion not provided [RCV001008392] Chr17:7203701 [GRCh38]
Chr17:7107020 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter) single nucleotide variant Abnormality of circulating enzyme level [RCV001003624] Chr17:7220021 [GRCh38]
Chr17:7123340 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000018.4(ACADVL):c.51C>T (p.Leu17=) single nucleotide variant Very long chain acyl-CoA dehydrogenase deficiency [RCV001126459] Chr17:7220035 [GRCh38]
Chr17:7123354 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter) single nucleotide variant not provided [RCV001172111] Chr17:7196320 [GRCh38]
Chr17:7099639 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) single nucleotide variant Intellectual developmental disorder 62 [RCV001004850]|not provided [RCV001171614] Chr17:7196915 [GRCh38]
Chr17:7100234 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic
DLG4, 1-BP DUP, 277A duplication INTELLECTUAL DEVELOPMENTAL DISORDER 62 [RCV001004848] Chr17:17p13.1 pathogenic
NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter) single nucleotide variant Intellectual developmental disorder 62 [RCV001004849] Chr17:7196557 [GRCh38]
Chr17:7099876 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001321075.3(DLG4):c.1363C>T (p.Arg455Cys) single nucleotide variant Intellectual disability [RCV001252472] Chr17:7194434 [GRCh38]
Chr17:7097753 [GRCh37]
Chr17:17p13.1
likely benign
NM_001321075.3(DLG4):c.1421G>A (p.Arg474Gln) single nucleotide variant Intellectual disability [RCV001252473] Chr17:7194376 [GRCh38]
Chr17:7097695 [GRCh37]
Chr17:17p13.1
likely benign
NM_001321075.3(DLG4):c.926G>A (p.Arg309Gln) single nucleotide variant Intellectual disability [RCV001252474] Chr17:7196914 [GRCh38]
Chr17:7100233 [GRCh37]
Chr17:17p13.1
likely benign
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1 copy number loss not provided [RCV001259300] Chr17:7014481..7283233 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter) duplication not provided [RCV001268465] Chr17:7194362..7194363 [GRCh38]
Chr17:7097681..7097682 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter) single nucleotide variant Inborn genetic diseases [RCV001266082] Chr17:7193712 [GRCh38]
Chr17:7097031 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001365.4(DLG4):c.20-1G>C single nucleotide variant Autism spectrum disorder [RCV001291270] Chr17:7218640 [GRCh38]
Chr17:7121959 [GRCh37]
Chr17:17p13.1
association
NM_001365.4(DLG4):c.38G>A (p.Trp13Ter) single nucleotide variant not provided [RCV001291571] Chr17:7218621 [GRCh38]
Chr17:7121940 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_001321075.3(DLG4):c.1711C>T (p.Arg571Trp) single nucleotide variant Intellectual developmental disorder 62 [RCV001291797] Chr17:7193100 [GRCh38]
Chr17:7096419 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.10:g.(?_6328780)_(7128416_?)dup duplication Epileptic encephalopathy, early infantile, 25 [RCV001320321] Chr17:6328780..7128416 [GRCh37]
Chr17:17p13.2-13.1
uncertain significance
NM_001321075.3(DLG4):c.210+2del deletion Intellectual developmental disorder 62 [RCV001270405] Chr17:7204006 [GRCh38]
Chr17:7107325 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_001321075.3(DLG4):c.193del (p.Glu65fs) deletion not provided [RCV001311107] Chr17:7204025 [GRCh38]
Chr17:7107344 [GRCh37]
Chr17:17p13.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2903 AgrOrtholog
COSMIC DLG4 COSMIC
Ensembl Genes ENSG00000132535 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000307471 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382425 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382428 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000388122 UniProtKB/TrEMBL
  ENSP00000407918 UniProtKB/TrEMBL
  ENSP00000460625 UniProtKB/TrEMBL
  ENSP00000465720 UniProtKB/TrEMBL
  ENSP00000465789 UniProtKB/TrEMBL
  ENSP00000467897 UniProtKB/TrEMBL
  ENSP00000496903 UniProtKB/TrEMBL
  ENSP00000497011 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497462 UniProtKB/TrEMBL
  ENSP00000497546 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497553 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497647 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497662 UniProtKB/TrEMBL
  ENSP00000497806 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497879 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497912 UniProtKB/TrEMBL
  ENSP00000498035 UniProtKB/TrEMBL
Ensembl Transcript ENST00000302955 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399506 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399510 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000447163 UniProtKB/TrEMBL
  ENST00000451807 UniProtKB/TrEMBL
  ENST00000485100 UniProtKB/TrEMBL
  ENST00000486626 UniProtKB/TrEMBL
  ENST00000491753 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000493294 UniProtKB/TrEMBL
  ENST00000647975 UniProtKB/TrEMBL
  ENST00000648172 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000648263 UniProtKB/TrEMBL
  ENST00000648658 UniProtKB/TrEMBL
  ENST00000648760 UniProtKB/TrEMBL
  ENST00000648896 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000649186 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000649520 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000649971 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000650120 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000650301 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132535 GTEx
HGNC ID HGNC:2903 ENTREZGENE
Human Proteome Map DLG4 Human Proteome Map
InterPro DLG1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DLG1_PEST_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GK/Ca_channel_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1742 UniProtKB/Swiss-Prot
NCBI Gene 1742 ENTREZGENE
OMIM 602887 OMIM
  618793 OMIM
Pfam Guanylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGUK_N_PEST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27359 PharmGKB
PIRSF MAGUK_DLGH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GUANYLATE_KINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GuKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGUK_N_PEST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRP2_HUMAN UniProtKB/TrEMBL
  A0A3B3IS17_HUMAN UniProtKB/TrEMBL
  A0A3B3ISL1_HUMAN UniProtKB/TrEMBL
  A0A3B3ISQ5_HUMAN UniProtKB/TrEMBL
  A0A3B3ISR0_HUMAN UniProtKB/TrEMBL
  A0A3B3ITD1_HUMAN UniProtKB/TrEMBL
  A0A3B3ITI9_HUMAN UniProtKB/TrEMBL
  A0A3B3IU19_HUMAN UniProtKB/TrEMBL
  B7Z3U2_HUMAN UniProtKB/TrEMBL
  B7Z4H2 ENTREZGENE, UniProtKB/TrEMBL
  B7Z647 ENTREZGENE, UniProtKB/TrEMBL
  B9EGL1 ENTREZGENE, UniProtKB/TrEMBL
  C9JWP9_HUMAN UniProtKB/TrEMBL
  C9JYG3_HUMAN UniProtKB/TrEMBL
  DLG4_HUMAN UniProtKB/Swiss-Prot
  K7EKP9_HUMAN UniProtKB/TrEMBL
  K7EKU8_HUMAN UniProtKB/TrEMBL
  O14909_HUMAN UniProtKB/TrEMBL
  P78352 ENTREZGENE
  Q3ZCU5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z1S1 UniProtKB/Swiss-Prot
  G5E939 UniProtKB/Swiss-Prot
  K7EQM6 UniProtKB/TrEMBL
  Q92941 UniProtKB/Swiss-Prot
  Q9UKK8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 DLG4  discs large MAGUK scaffold protein 4    discs large homolog 4  Symbol and/or name change 5135510 APPROVED
2016-01-26 DLG4  discs large homolog 4    discs, large homolog 4 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-08-16 DLG4  discs, large homolog 4 (Drosophila)  DLG4  discs, large homolog 4 (Drosophila)  Symbol and/or name change 5135510 APPROVED