Gene Gene information from NCBI Gene database.
Entrez ID 9231
Gene name Discs large MAGUK scaffold protein 5
Gene symbol DLG5
Synonyms (NCBI Gene)
LP-DLGP-DLG5PDLGYUVOB
Chromosome 10
Chromosome location 10q22.3
Summary This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and S
miRNA miRNA information provided by mirtarbase database.
1074
miRTarBase ID miRNA Experiments Reference
MIRT004847 hsa-miR-192-5p Luciferase reporter assayqRT-PCR 19074876
MIRT024569 hsa-miR-215-5p Microarray 19074876
MIRT004847 hsa-miR-192-5p Reporter assay;Microarray;Other 19074876
MIRT050554 hsa-miR-20a-5p CLASH 23622248
MIRT042178 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60
GO ID Ontology Definition Evidence Reference
GO:0001837 Process Epithelial to mesenchymal transition IMP 28169360
GO:0005515 Function Protein binding IPI 23624079, 28087714, 28169360
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 9738934
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604090 2904 ENSG00000151208
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TDM6
Protein name Disks large homolog 5 (Discs large protein P-dlg) (Placenta and prostate DLG)
Protein function Acts as a regulator of the Hippo signaling pathway (PubMed:28087714, PubMed:28169360). Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperpho
PDB 1UIT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04822 Takusan 128 213 Takusan Family
PF00595 PDZ 626 707 PDZ domain Domain
PF00595 PDZ 716 793 PDZ domain Domain
PF00595 PDZ 1350 1426 PDZ domain Domain
PF16610 dbPDZ_assoc 1427 1499 Disordered
PF00625 Guanylate_kin 1771 1907 Guanylate kinase Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in normal breast tissues and low-grade breast cancer tissues (at protein level) (PubMed:28169360). Highly expressed in the placenta and prostate. Expressed at a lower level in the thyroid, spinal cord, trachea, adrenal
Sequence
MEPQRRELLAQCQQSLAQAMTEVEAVLGLLEAAGALSPGERRQLDEEAGGAKAELLLKLL
LAKERDHFQDLRAALEKTQPHLLPILYLNGVVGPPQPAEGAGSTYSVLSTMPSDSESSSS
LSSVGTTGKAPSPPPLLTDQQVNEKVENLSIQLRLMTRERNELRKRLAFATHGTAFDKRP
YHRLNPDYERLKIQCVRAMSDLQSLQNQHTNAL
KRCEEVAKETDFYHTLHSRLLSDQTRL
KDDVDMLRRENGQLLRERNLLQQSWEDMKRLHEEDQKEIGDLRAQQQQVLKHNGSSEILN
KLYDTAMDKLEVVKKDYDALRKRYSEKVAIHNADLSRLEQLGEENQRLLKQTEMLTQQRD
TAIQLQHQCALSLRRFEAIHHELNKATAQNKDLQWEMELLQSELTELRTTQVKTAKESEK
YREERDAVYSEYKLIMSERDQVISELDKLQTEVELAESKLKSSTSEKKAANEEMEALRQI
KDTVTMDAGRANKEVEILRKQCKALCQELKEALQEADVAKCRRDWAFQERDKIVAERDSI
RTLCDNLRRERDRAVSELAEALRSLDDTRKQKNDVSRELKELKEQMESQLEKEARFRQLM
AHSSHDSAIDTDSMEWETEVVEFERETEDIDLKALGFDMAEGVNEPCFPGDCGIFVTKVD
KGSIADGRLRVNDWLLRINDVDLINKDKKQAIKALLNGEGAINMVVR
RRKSLGGKVVTPL
HINLSGQKDSGISLENGVYAAAVLPGSPAAKEGSLAVGDRIVAINGIALDNKSLNECESL
LRSCQDSLTLSLL
KVFPQSSSWSGQNIFENIKDSDKMLSFRAHGPEVQAHNKRNLIQHNN
STQTDIFYTDRLEDRKEPGPPGGSSSFLHKPFPGGPLQVCPQACPSASERSLSSFRSDAS
GDRGFGLVDVRGRRPLLPFETEVGPCGVGEASLDKADSEGSNSGGTWPKAMLSSTAVPEK
LSVYKKPKQRKSIFDPNTFKRPQTPPKIDYLLPGPGPAHSPQPSKRAGPLTPPKPPRRSD
SIKFQHRLETSSESEATLVGSSPSTSPPSALPPDVDPGEPMHASPPRKARVRIASSYYPE
GDGDSSHLPAKKSCDEDLTSQKVDELGQKRRRPKSAPSFRPKLAPVVIPAQFLEEQKCVP
ASGELSPELQEWAPYSPGHSSRHSNPPLYPSRPSVGTVPRSLTPSTTVSSILRNPIYTVR
SHRVGPCSSPPAARDAGPQGLHPSVQHQGRLSLDLSHRTCSDYSEMRATHGSNSLPSSAR
LGSSSNLQFKAERIKIPSTPRYPRSVVGSERGSVSHSECSTPPQSPLNIDTLSSCSQSQT
SASTLPRIAVNPASLGERRKDRPYVEEPRHVKVQKGSEPLGISIVSGEKGGIYVSKVTVG
SIAHQAGLEYGDQLLEFNGINLRSATEQQARLIIGQQCDTITILAQ
YNPHVHQLSSHSRS
SSHLDPAGTHSTLQGSGTTTPEHPSVIDPLMEQDEGPSTPPAKQSSSRIAGDANKKTLE
P
RVVFIKKSQLELGVHLCGGNLHGVFVAEVEDDSPAKGPDGLVPGDLILEYGSLDVRNKTV
EEVYVEMLKPRDGVRLKVQYRPEEFTKAKGLPGDSFYIRALYDRLADVEQELSFKKDDIL
YVDDTLPQGTFGSWMAWQLDENAQKIQRGQIPSKYVMDQEFSRRLSMSEVKDDNSATKTL
SAAARRSFFRRKHKHKRSGSKDGKDLLALDAFSSDSIPLFEDSVSLAYQRVQKVDCTALR
PVLILGPLLDVVKEMLVNEAPGKFCRCPLEVMKASQQAIERGVKDCLFVDYKRRSGHFDV
TTVASIKEITEKNRHCLLDIAPHAIERLHHMHIYPIVIFIHYKSAKHIKEQRDPIYLRDK
VTQRHSKEQFEAAQKLEQEYSRYFTGVIQGGALSSICTQILAMVNQE
QNKVLWIPACPL
Sequence length 1919
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Hippo signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Yuksel-Vogel-Bauer syndrome Pathogenic rs2492090314, rs764575492 RCV003494546
RCV003494547
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAKUT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 30450766, 39780116
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Associate 22065243
★☆☆☆☆
Found in Text Mining only
Crohn Disease Associate 15843420, 16437728, 18715515, 20037206, 22065243, 30648106
★☆☆☆☆
Found in Text Mining only
Glioblastoma Stimulate 34984467
★☆☆☆☆
Found in Text Mining only
Glioma Associate 34984467
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 18433468
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Associate 20037206, 22065243, 30648106
★☆☆☆☆
Found in Text Mining only
Mullerian aplasia Associate 35361250
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 16838325, 33908609, 34984467
★☆☆☆☆
Found in Text Mining only
Neoplasms Stimulate 31277598
★☆☆☆☆
Found in Text Mining only