Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9681
Gene name Gene Name - the full gene name approved by the HGNC.	DEP domain containing 5, GATOR1 subcomplex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DEPDC5
Synonyms (NCBI Gene) Gene synonyms aliases	DEE111, DEP.5, FFEVF, FFEVF1, FPEVF
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q12.2-q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this

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SNP ID	Visualize variation	Clinical significance	Consequence
rs16989535	C>T	Benign, pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs142540948	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs181347577	C>T	Likely-benign, benign, benign-likely-benign, pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs187334123	G>A,T	Uncertain-significance, benign-likely-benign, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs201202102	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs201312113	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs202083639	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs370940232	A>C	Pathogenic, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs371377906	C>T	Pathogenic, likely-benign	Genic downstream transcript variant, intron variant
rs374158137	T>A,C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, synonymous variant, stop gained, coding sequence variant
rs541024038	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs578185749	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587776973	C>G,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs587776974	GTT>-	Pathogenic	Inframe deletion, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs587776975	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, stop gained
rs587776976	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs587776977	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs587777458	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs587777459	C>G,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs757511744	C>G,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs759952667	C>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs766360619	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs768241563	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs768456731	G>A,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs772872014	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs780960812	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs786205703	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs797044545	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs797044546	C>T	Pathogenic	Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs879255234	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039243	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886039244	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039245	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886039246	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886039247	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039248	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039249	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886039250	TCGTT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039251	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039252	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886039253	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039254	TGAG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039255	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039256	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039257	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039258	->GATTTGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039259	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039260	C>G,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs886039261	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039262	CTGCATG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs886039263	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886039264	A>-	Pathogenic	Non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039265	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs886039266	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs886039267	G>A	Pathogenic	Downstream transcript variant, intron variant, genic downstream transcript variant
rs886039268	C>T	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886039269	C>T	Pathogenic	Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886039270	A>G	Pathogenic	Intron variant, genic downstream transcript variant
rs886039271	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs886039272	G>-	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039273	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs886039274	C>T	Pathogenic	Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886039280	A>G	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1057519107	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1057524233	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1060501487	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, genic upstream transcript variant
rs1060501488	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1064794917	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1085307452	GG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1261611694	G>A,C	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1315483224	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1372605067	CT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1383795440	G>C	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1475605360	->A	Not-provided, likely-pathogenic	Genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555882867	G>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1555882921	AT>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1555885023	G>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1555897392	->AGA	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1555900914	ACTGCGACATCTATGGGGACAGGCCC>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555914806	->TC	Likely-pathogenic	Intron variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555942720	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1556526609	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1556607762	G>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1556608580	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1568955379	C>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568963062	CAGG>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568991466	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1569012755	->A	Pathogenic	Genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569067939	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant
rs1569083500	CTCAGAGTTC>GGACA	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569166925	G>-	Pathogenic	Intron variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569186093	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs1569232705	C>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1569254004	->CA	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569512941	C>T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1569523728	GA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601599644	A>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601755632	->CTGG	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601875057	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1601925213	GAAGA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601935630	AT>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601969933	AG>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601970168	G>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601970824	T>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1602010382	C>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1602349641	G>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs1602903591	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1603014297	->T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1603014708	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017533	hsa-miR-335-5p	Microarray	18185580
MIRT043372	hsa-miR-331-3p	CLASH	23622248
MIRT932980	hsa-miR-1207-3p	CLIP-seq
MIRT932981	hsa-miR-216a	CLIP-seq
MIRT932982	hsa-miR-216b	CLIP-seq
MIRT932983	hsa-miR-3065-3p	CLIP-seq
MIRT932984	hsa-miR-3612	CLIP-seq
MIRT932985	hsa-miR-3622b-5p	CLIP-seq
MIRT932986	hsa-miR-4433	CLIP-seq
MIRT932987	hsa-miR-4443	CLIP-seq
MIRT932988	hsa-miR-4455	CLIP-seq
MIRT932989	hsa-miR-609	CLIP-seq
MIRT932990	hsa-miR-650	CLIP-seq
MIRT932991	hsa-miR-661	CLIP-seq
MIRT932992	hsa-miR-665	CLIP-seq
MIRT932993	hsa-miR-190	CLIP-seq
MIRT932994	hsa-miR-190b	CLIP-seq
MIRT932995	hsa-miR-3977	CLIP-seq
MIRT932996	hsa-miR-4693-3p	CLIP-seq
MIRT932997	hsa-miR-4710	CLIP-seq
MIRT932998	hsa-miR-4762-3p	CLIP-seq
MIRT932999	hsa-miR-4792	CLIP-seq
MIRT933000	hsa-miR-552	CLIP-seq
MIRT933001	hsa-miR-582-5p	CLIP-seq
MIRT933002	hsa-miR-15a	CLIP-seq
MIRT933003	hsa-miR-15b	CLIP-seq
MIRT933004	hsa-miR-16	CLIP-seq
MIRT933005	hsa-miR-195	CLIP-seq
MIRT933006	hsa-miR-2115	CLIP-seq
MIRT933007	hsa-miR-424	CLIP-seq
MIRT933008	hsa-miR-497	CLIP-seq
MIRT933009	hsa-miR-516a-3p	CLIP-seq
MIRT933010	hsa-miR-646	CLIP-seq
MIRT933011	hsa-miR-885-3p	CLIP-seq
MIRT2211650	hsa-miR-1224-3p	CLIP-seq
MIRT2211651	hsa-miR-1260	CLIP-seq
MIRT2211652	hsa-miR-1260b	CLIP-seq
MIRT2211653	hsa-miR-1280	CLIP-seq
MIRT933002	hsa-miR-15a	CLIP-seq
MIRT933003	hsa-miR-15b	CLIP-seq
MIRT933004	hsa-miR-16	CLIP-seq
MIRT933005	hsa-miR-195	CLIP-seq
MIRT2211654	hsa-miR-3194-3p	CLIP-seq
MIRT2211655	hsa-miR-3663-3p	CLIP-seq
MIRT2211656	hsa-miR-3921	CLIP-seq
MIRT933007	hsa-miR-424	CLIP-seq
MIRT2211657	hsa-miR-4303	CLIP-seq
MIRT2211658	hsa-miR-4653-5p	CLIP-seq
MIRT933008	hsa-miR-497	CLIP-seq
MIRT2211659	hsa-miR-532-3p	CLIP-seq
MIRT933002	hsa-miR-15a	CLIP-seq
MIRT933003	hsa-miR-15b	CLIP-seq
MIRT933004	hsa-miR-16	CLIP-seq
MIRT933005	hsa-miR-195	CLIP-seq
MIRT933006	hsa-miR-2115	CLIP-seq
MIRT933007	hsa-miR-424	CLIP-seq
MIRT932986	hsa-miR-4433	CLIP-seq
MIRT933008	hsa-miR-497	CLIP-seq
MIRT933009	hsa-miR-516a-3p	CLIP-seq
MIRT933010	hsa-miR-646	CLIP-seq
MIRT933011	hsa-miR-885-3p	CLIP-seq
MIRT2679182	hsa-miR-1264	CLIP-seq
MIRT933002	hsa-miR-15a	CLIP-seq
MIRT933003	hsa-miR-15b	CLIP-seq
MIRT933004	hsa-miR-16	CLIP-seq
MIRT933005	hsa-miR-195	CLIP-seq
MIRT933006	hsa-miR-2115	CLIP-seq
MIRT2679183	hsa-miR-3655	CLIP-seq
MIRT2679184	hsa-miR-3677-3p	CLIP-seq
MIRT933007	hsa-miR-424	CLIP-seq
MIRT932986	hsa-miR-4433	CLIP-seq
MIRT2679185	hsa-miR-4440	CLIP-seq
MIRT2679186	hsa-miR-4659a-3p	CLIP-seq
MIRT2679187	hsa-miR-4659b-3p	CLIP-seq
MIRT2679188	hsa-miR-4777-5p	CLIP-seq
MIRT933008	hsa-miR-497	CLIP-seq
MIRT933009	hsa-miR-516a-3p	CLIP-seq
MIRT2679189	hsa-miR-518d-5p	CLIP-seq
MIRT2679190	hsa-miR-519b-5p	CLIP-seq
MIRT2679191	hsa-miR-519c-5p	CLIP-seq
MIRT2679192	hsa-miR-520c-5p	CLIP-seq
MIRT2679193	hsa-miR-526a	CLIP-seq
MIRT933010	hsa-miR-646	CLIP-seq
MIRT933011	hsa-miR-885-3p	CLIP-seq

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	23723238
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	28199306
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	NAS	23723238
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0016020	Component	Membrane	IEA
GO:0031267	Function	Small GTPase binding	IDA	29590090, 35338845
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	29769719
GO:0031669	Process	Cellular response to nutrient levels	IDA	29236692, 29750193, 31601708
GO:0034198	Process	Cellular response to amino acid starvation	IBA
GO:0034198	Process	Cellular response to amino acid starvation	IDA	29590090, 35338845
GO:0034198	Process	Cellular response to amino acid starvation	IMP	23723238
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038202	Process	TORC1 signaling	IDA	12087098, 29750193
GO:0044877	Function	Protein-containing complex binding	IDA	23723238
GO:0045947	Process	Negative regulation of translational initiation	IDA	22578813
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0061462	Process	Protein localization to lysosome	IDA	31601708
GO:1904262	Process	Negative regulation of TORC1 signaling	IBA
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	29590090, 35338845
GO:1904262	Process	Negative regulation of TORC1 signaling	IMP	25457612, 29769719
GO:1904262	Process	Negative regulation of TORC1 signaling	NAS	23723238
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29236692, 31601708
GO:1990130	Component	GATOR1 complex	IBA
GO:1990130	Component	GATOR1 complex	IDA	29590090, 35338845
GO:1990130	Component	GATOR1 complex	IPI	25263562

MIM	HGNC	e!Ensembl
614191	18423	ENSG00000100150

Protein

UniProt ID

O75140

Protein name

GATOR1 complex protein DEPDC5 (DEP domain-containing protein 5)

Protein function

As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:25457612, PubMed:29590090, PubMed:29769719, PubMed:31548394, PubMed:35338845). In response to amino ac

PDB

6CES , 6CET , 7T3A , 7T3B , 7T3C , 8FW5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12257	IML1	100 → 382	Vacuolar membrane-associated protein Iml1	Family
PF00610	DEP	1190 → 1260	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in developing and adult brain. {ECO:0000269|PubMed:23542701}.

Sequence

MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKE
DLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKS
LVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCE
MWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRA
SIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNST
SAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDN
GIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFT
PRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTT
CRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHL
HQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINP
FAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLE
LAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTS
PDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPE
ADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGL
VSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSE
FVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRIT
EGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGP
ISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTP
TYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTSLGICTGQSMDRGNSQ
TFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGL
SPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKI
VTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRP
ASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSL
NAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLF
IPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKP
QYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRS
SATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP

Sequence length

1603

Interactions

View interactions

	KEGG		Reactome
	mTOR signaling pathway		Amino acids regulate mTORC1

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Epilepsy	epilepsy, familial focal, with variable foci 1, familial focal epilepsy with variable foci, Autosomal dominant epilepsy, epilepsy	rs1603014708, rs2083056830, rs1555882867, rs886039251, rs886039261, rs587776975, rs1569255443, rs886039273, rs587777459, rs1568963062, rs1601875057, rs2084070588, rs1555900914, rs886039263, rs1568955379 View all (57 more)	N/A
Mental retardation	intellectual disability	rs1601970168	N/A
Nocturnal Epilepsy	autosomal dominant nocturnal frontal lobe epilepsy	rs2092986219	N/A
seizure	Seizure	rs2082695884, rs1315483224, rs587776976, rs886039268	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Brugada Syndrome	Brugada syndrome	N/A	N/A	GenCC
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Ependymoma	ependymoma	N/A	N/A	ClinVar
Epilepsy With Auditory Features	autosomal dominant epilepsy with auditory features	N/A	N/A	GenCC
Epileptic encephalopathy	epileptic encephalopathy	N/A	N/A	ClinVar
focal epilepsy	Focal epilepsy	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anxiety	Associate	26216793
Brain Diseases	Associate	37263295
Carcinoma Hepatocellular	Associate	25551790, 26517016, 28928439, 30723271
Central Nervous System Vascular Malformations	Associate	32574724
Corneal Dystrophy Fleck	Associate	25623524
Drug Resistant Epilepsy	Associate	31353856, 36067010, 36697241
Epilepsies Partial	Associate	23542701, 25623524, 26216793, 29125946, 30911571, 34018700, 35907814, 36067010, 36639812, 37390664, 37722146
Epilepsy	Associate	25623524, 26216793, 29125946, 30977854, 32574724, 32613771, 36067010, 36639812, 37263295, 37390664
Epilepsy Familial Mesial Temporal Lobe	Associate	26216793
Epilepsy Nocturnal Frontal Lobe Type 2	Associate	26786403
Epilepsy Partial with Variable Foci	Associate	26216793
Epilepsy Temporal Lobe	Associate	26216793, 28633043
Epileptic Syndromes	Associate	23542701, 25623524, 27173016, 35907814, 36697241
Fibrosis	Associate	25551790, 26517016
Flatfoot	Associate	36697241
Focal Cortical Dysplasia	Associate	25599672, 25623524, 31353856, 31835056, 36067010, 37006128
Focal cortical dysplasia of Taylor	Associate	31074842, 36342087, 36697241
Heart Diseases	Associate	36067010
Hemimegalencephaly	Associate	25599672, 31444548
Hepatitis C	Associate	25551790
Hepatitis C Chronic	Associate	25551790, 26517016
Hypopigmentation	Associate	37263295
Intellectual Disability	Associate	33278787
Liver Cirrhosis	Associate	25551790
Liver Diseases	Associate	26517016
Malformations of Cortical Development	Associate	29125946, 31353856, 36226386
Megalencephaly	Associate	36067010
Neoplasm Metastasis	Associate	29486199
Neoplasms	Associate	35822448
Neutropenia	Associate	36067010
Nocturnal Paroxysmal Dystonia	Associate	29125946, 31835056
Polymicrogyria	Associate	36067010
Psychotic Disorders	Associate	39950246
Seizures	Associate	33453592
Status Epilepticus	Associate	33278787

DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit)