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.	7204
Gene name Gene Name - the full gene name approved by the HGNC.	Trio Rho guanine nucleotide exchange factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TRIO
Synonyms (NCBI Gene) Gene synonyms aliases	ARHGEF23, MEBAS, MRD44, MRD63, tgat
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MRD44, MRD63
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p15.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript

Show/Hide all(27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs879255622	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879255623	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255624	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs879255625	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255626	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255627	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255628	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs905287265	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1057516029	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1435239428	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1436796227	->C,CC	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, frameshift variant
rs1554054155	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554062562	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554062588	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554064737	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554064863	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554065893	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554068529	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554070777	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554086647	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1554091578	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1561518112	G>A	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1579448914	GT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579522661	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1579564431	A>G	Likely-pathogenic	Splice acceptor variant
rs1579803563	GC>CGAGGGG	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1579804792	->CCGGG	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant

Show/Hide all(257)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020707	hsa-miR-155-5p	Proteomics	18668040
MIRT028297	hsa-miR-32-5p	Sequencing	20371350
MIRT028514	hsa-miR-30a-5p	Proteomics	18668040
MIRT052599	hsa-let-7a-5p	CLASH	23622248
MIRT038821	hsa-miR-93-3p	CLASH	23622248
MIRT038821	hsa-miR-93-3p	CLASH	23622248
MIRT095655	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT095658	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028297	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1456202	hsa-miR-101	CLIP-seq
MIRT1456203	hsa-miR-1206	CLIP-seq
MIRT1456204	hsa-miR-1207-5p	CLIP-seq
MIRT1456205	hsa-miR-125a-3p	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT1456207	hsa-miR-1299	CLIP-seq
MIRT1456208	hsa-miR-132	CLIP-seq
MIRT1456209	hsa-miR-139-3p	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456212	hsa-miR-153	CLIP-seq
MIRT1456213	hsa-miR-190	CLIP-seq
MIRT1456214	hsa-miR-190b	CLIP-seq
MIRT1456215	hsa-miR-212	CLIP-seq
MIRT1456216	hsa-miR-2355-5p	CLIP-seq
MIRT1456217	hsa-miR-25	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT1456220	hsa-miR-3123	CLIP-seq
MIRT1456221	hsa-miR-3133	CLIP-seq
MIRT1456222	hsa-miR-3163	CLIP-seq
MIRT1456223	hsa-miR-32	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT1456225	hsa-miR-3613-3p	CLIP-seq
MIRT1456226	hsa-miR-363	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT1456229	hsa-miR-367	CLIP-seq
MIRT1456230	hsa-miR-3677-5p	CLIP-seq
MIRT1456231	hsa-miR-3714	CLIP-seq
MIRT1456232	hsa-miR-375	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT1456234	hsa-miR-383	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT1456238	hsa-miR-4307	CLIP-seq
MIRT1456239	hsa-miR-4311	CLIP-seq
MIRT1456240	hsa-miR-448	CLIP-seq
MIRT1456241	hsa-miR-4511	CLIP-seq
MIRT1456242	hsa-miR-4635	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT1456249	hsa-miR-4763-3p	CLIP-seq
MIRT1456250	hsa-miR-4772-5p	CLIP-seq
MIRT1456251	hsa-miR-4782-5p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT1456253	hsa-miR-502-5p	CLIP-seq
MIRT1456254	hsa-miR-509-3p	CLIP-seq
MIRT1456255	hsa-miR-516b	CLIP-seq
MIRT1456256	hsa-miR-539	CLIP-seq
MIRT1456257	hsa-miR-548aa	CLIP-seq
MIRT1456258	hsa-miR-548ac	CLIP-seq
MIRT1456259	hsa-miR-548d-3p	CLIP-seq
MIRT1456260	hsa-miR-548z	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT1456262	hsa-miR-570	CLIP-seq
MIRT1456263	hsa-miR-582-5p	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT1456265	hsa-miR-92a	CLIP-seq
MIRT1456266	hsa-miR-92b	CLIP-seq
MIRT1456267	hsa-miR-935	CLIP-seq
MIRT1456268	hsa-miR-940	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT1456204	hsa-miR-1207-5p	CLIP-seq
MIRT1456205	hsa-miR-125a-3p	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT2136773	hsa-miR-1286	CLIP-seq
MIRT2136774	hsa-miR-1293	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT2136775	hsa-miR-3132	CLIP-seq
MIRT2136776	hsa-miR-3151	CLIP-seq
MIRT2136777	hsa-miR-3177-5p	CLIP-seq
MIRT2136778	hsa-miR-3184	CLIP-seq
MIRT2136779	hsa-miR-34a	CLIP-seq
MIRT2136780	hsa-miR-34c-5p	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT2136781	hsa-miR-423-5p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT1456239	hsa-miR-4311	CLIP-seq
MIRT2136782	hsa-miR-4447	CLIP-seq
MIRT2136783	hsa-miR-4472	CLIP-seq
MIRT2136784	hsa-miR-4483	CLIP-seq
MIRT2136785	hsa-miR-449a	CLIP-seq
MIRT2136786	hsa-miR-449b	CLIP-seq
MIRT2136787	hsa-miR-4651	CLIP-seq
MIRT2136788	hsa-miR-4688	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT1456249	hsa-miR-4763-3p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT1456254	hsa-miR-509-3p	CLIP-seq
MIRT2136789	hsa-miR-5095	CLIP-seq
MIRT2136790	hsa-miR-541	CLIP-seq
MIRT2136791	hsa-miR-552	CLIP-seq
MIRT2136792	hsa-miR-556-3p	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT2136793	hsa-miR-608	CLIP-seq
MIRT2136794	hsa-miR-654-5p	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT2136795	hsa-miR-892a	CLIP-seq
MIRT2136796	hsa-miR-943	CLIP-seq
MIRT1456202	hsa-miR-101	CLIP-seq
MIRT1456203	hsa-miR-1206	CLIP-seq
MIRT2357540	hsa-miR-1268	CLIP-seq
MIRT2357541	hsa-miR-1268b	CLIP-seq
MIRT2357542	hsa-miR-1273f	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT2136773	hsa-miR-1286	CLIP-seq
MIRT2357543	hsa-miR-129-5p	CLIP-seq
MIRT2357544	hsa-miR-1298	CLIP-seq
MIRT2357545	hsa-miR-1304	CLIP-seq
MIRT1456208	hsa-miR-132	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT2357546	hsa-miR-143	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456212	hsa-miR-153	CLIP-seq
MIRT1456213	hsa-miR-190	CLIP-seq
MIRT1456214	hsa-miR-190b	CLIP-seq
MIRT2357547	hsa-miR-200b	CLIP-seq
MIRT2357548	hsa-miR-200c	CLIP-seq
MIRT1456215	hsa-miR-212	CLIP-seq
MIRT1456216	hsa-miR-2355-5p	CLIP-seq
MIRT1456217	hsa-miR-25	CLIP-seq
MIRT2357549	hsa-miR-2964a-5p	CLIP-seq
MIRT2357550	hsa-miR-298	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT2357551	hsa-miR-3120-3p	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT2357552	hsa-miR-3140-5p	CLIP-seq
MIRT2136776	hsa-miR-3151	CLIP-seq
MIRT1456222	hsa-miR-3163	CLIP-seq
MIRT2136777	hsa-miR-3177-5p	CLIP-seq
MIRT2136778	hsa-miR-3184	CLIP-seq
MIRT2357553	hsa-miR-3189-3p	CLIP-seq
MIRT1456223	hsa-miR-32	CLIP-seq
MIRT2357554	hsa-miR-345	CLIP-seq
MIRT2136779	hsa-miR-34a	CLIP-seq
MIRT2136780	hsa-miR-34c-5p	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT2357555	hsa-miR-3607-5p	CLIP-seq
MIRT1456225	hsa-miR-3613-3p	CLIP-seq
MIRT2357556	hsa-miR-3614-5p	CLIP-seq
MIRT1456226	hsa-miR-363	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT2357557	hsa-miR-3663-3p	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT1456229	hsa-miR-367	CLIP-seq
MIRT2357558	hsa-miR-3673	CLIP-seq
MIRT2357559	hsa-miR-3678-3p	CLIP-seq
MIRT2357560	hsa-miR-3689a-5p	CLIP-seq
MIRT2357561	hsa-miR-3689b	CLIP-seq
MIRT2357562	hsa-miR-3689e	CLIP-seq
MIRT2357563	hsa-miR-3689f	CLIP-seq
MIRT1456231	hsa-miR-3714	CLIP-seq
MIRT1456232	hsa-miR-375	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT2357564	hsa-miR-3908	CLIP-seq
MIRT2357565	hsa-miR-3920	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2136781	hsa-miR-423-5p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT2357566	hsa-miR-429	CLIP-seq
MIRT2357567	hsa-miR-4312	CLIP-seq
MIRT2357568	hsa-miR-4318	CLIP-seq
MIRT2357569	hsa-miR-4427	CLIP-seq
MIRT1456240	hsa-miR-448	CLIP-seq
MIRT2136785	hsa-miR-449a	CLIP-seq
MIRT2136786	hsa-miR-449b	CLIP-seq
MIRT2357570	hsa-miR-450b-5p	CLIP-seq
MIRT2357571	hsa-miR-4663	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT2357572	hsa-miR-4679	CLIP-seq
MIRT2136788	hsa-miR-4688	CLIP-seq
MIRT2357573	hsa-miR-4693-5p	CLIP-seq
MIRT2357574	hsa-miR-4708-5p	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT2357575	hsa-miR-4750	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT2357576	hsa-miR-4770	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT2357578	hsa-miR-507	CLIP-seq
MIRT2136789	hsa-miR-5095	CLIP-seq
MIRT1456257	hsa-miR-548aa	CLIP-seq
MIRT1456258	hsa-miR-548ac	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1456259	hsa-miR-548d-3p	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT1456260	hsa-miR-548z	CLIP-seq
MIRT2136791	hsa-miR-552	CLIP-seq
MIRT2136792	hsa-miR-556-3p	CLIP-seq
MIRT2357579	hsa-miR-557	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT1456263	hsa-miR-582-5p	CLIP-seq
MIRT2357580	hsa-miR-635	CLIP-seq
MIRT2357581	hsa-miR-664	CLIP-seq
MIRT2357582	hsa-miR-711	CLIP-seq
MIRT2357583	hsa-miR-759	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT2357584	hsa-miR-890	CLIP-seq
MIRT2136795	hsa-miR-892a	CLIP-seq
MIRT1456265	hsa-miR-92a	CLIP-seq
MIRT1456266	hsa-miR-92b	CLIP-seq
MIRT1456268	hsa-miR-940	CLIP-seq
MIRT2136796	hsa-miR-943	CLIP-seq
MIRT2357540	hsa-miR-1268	CLIP-seq
MIRT2357541	hsa-miR-1268b	CLIP-seq
MIRT2357542	hsa-miR-1273f	CLIP-seq
MIRT2357545	hsa-miR-1304	CLIP-seq
MIRT2357546	hsa-miR-143	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2357574	hsa-miR-4708-5p	CLIP-seq
MIRT2357575	hsa-miR-4750	CLIP-seq
MIRT2357576	hsa-miR-4770	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq
MIRT2357544	hsa-miR-1298	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT2357551	hsa-miR-3120-3p	CLIP-seq
MIRT2357553	hsa-miR-3189-3p	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT2357564	hsa-miR-3908	CLIP-seq
MIRT2357567	hsa-miR-4312	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT2434365	hsa-miR-491-3p	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT2357580	hsa-miR-635	CLIP-seq
MIRT2357581	hsa-miR-664	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	8643598
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	17043677, 19846667, 22666460, 31413325
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IEA
GO:0007185	Process	Transmembrane receptor protein tyrosine phosphatase signaling pathway	TAS	8643598
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0048812	Process	Neuron projection morphogenesis	IMP	32109419
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

MIM	HGNC	e!Ensembl
601893	12303	ENSG00000038382

Protein

UniProt ID

O75962

Protein name

Triple functional domain protein (EC 2.7.11.1) (PTPRF-interacting protein)

Protein function

Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:22155786, PubMed:27418539, PubMed:8643598). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786)

PDB

1NTY , 2NZ8 , 6D8Z , 7SJ4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00650	CRAL_TRIO	67 → 205	CRAL/TRIO domain	Domain
PF00435	Spectrin	340 → 446	Spectrin repeat	Domain
PF00435	Spectrin	566 → 672	Spectrin repeat	Domain
PF00435	Spectrin	907 → 1011	Spectrin repeat	Domain
PF00435	Spectrin	1138 → 1244	Spectrin repeat	Domain
PF00621	RhoGEF	1296 → 1468	RhoGEF domain	Domain
PF00169	PH	1480 → 1591	PH domain	Domain
PF00018	SH3_1	1662 → 1713	SH3 domain	Domain
PF16609	SH3-RhoG_link	1715 → 1972		Disordered
PF00621	RhoGEF	1973 → 2143	RhoGEF domain	Domain
PF00169	PH	2159 → 2271	PH domain	Domain
PF07679	I-set	2685 → 2776	Immunoglobulin I-set domain	Domain
PF00069	Pkinase	2796 → 3050	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in heart, skeletal muscle, and brain. {ECO:0000269|PubMed:8643598}.

Sequence

MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEM
KAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVC
KRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFE
TNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDI
LAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSG
NADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNK
GLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIR
QIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDL
EDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDV
IHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSL
HRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFV
RRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTT
LQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKI
KLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNN
LTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHR
KHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKT
HQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTS
EQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRN
ADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQY
VVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLI
QLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQ
LDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLW
EMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKF
QMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELL
TCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTL
IRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVG
RTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRR
DGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRG
QTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVS
SNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKH
KKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEG
EEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSK
MALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVET
ERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLED
PEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKP
VQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVA
QGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKV
SCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNAL
TSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSR
IPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAE
GSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSP
LSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPG
KDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQI
LASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRK
KSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGE
TVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCI
AVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKR
AVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDC
VVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDA
VQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEET
CLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGV
LDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV

Sequence length

3097

Interactions

View interactions

	Reactome
			NRAGE signals death through JNK Rho GTPase cycle G alpha (q) signalling events G alpha (12/13) signalling events DCC mediated attractive signaling

Show/Hide Causal Diseases (14)

Disease term	Disease name	dbSNP ID	References
Causal
Atrioventricular septal defect	Atrioventricular Septal Defect	rs137852683, rs137852686, rs104894073, rs1598737972, rs1057518960, rs774018674, rs1575650682, rs1598737976, rs1188358849, rs2033057699
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Deafness	Deafness, Autosomal Recessive 28	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822 View all (1019 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 View all (1 more)
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	18206229
Mental retardation	Borderline intellectual disability, Mild Mental Retardation, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	27418539, 26721934
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	25533962, 26721934, 27418539, 22495306, 28928363, 24038936, 25363760, 8643598, 23033978
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 View all (2 more)	28191889
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Thyroid hormone resistance	Thyroid Hormone Resistance Syndrome	rs121918686, rs121918688, rs121918687, rs387906515, rs121918690, rs28999971, rs121918691, rs28933408, rs121918692, rs121918693, rs121918694, rs121918695, rs121918696, rs121918697, rs121918698 View all (21 more)

Show/Hide Unknown Diseases (8)

Disease term	Disease name	Evidence	References	Source
Unknown
Coronary heart disease	Coronary heart disease		22751097	ClinVar
Mental depression	Major Depressive Disorder		27777418	ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Macrocephaly	intellectual developmental disorder, autosomal dominant 63, with macrocephaly			GenCC
Mental Depression	Mental Depression			GWAS
Neuroblastoma	Neuroblastoma	Loss of SNAI2 function reduces self-renewal, 3D invasion as well as metastatic spread in vivo, while strongly sensitizing neuroblastoma cells to RA-induced growth inhibition.		GWAS, CBGDA
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Tremor	Tremor			GWAS

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining
Autism Spectrum Disorder	Associate	32109419, 34914033
Breast Neoplasms	Associate	23380069
Carcinoma Hepatocellular	Associate	25851347
Carcinoma Non Small Cell Lung	Associate	34496260
Cardiovascular Diseases	Associate	36197256
Chromosome Disorders	Associate	31515286
Developmental Disabilities	Associate	32109419, 33167890
Disease	Associate	32109419
Ectodermal Dysplasia	Associate	33167890
Encephalitis	Associate	22586486
Fetal Diseases	Associate	30992551
Fundus Albipunctatus	Associate	28764803
Glioblastoma	Associate	29363730
Hearing Loss	Associate	29363730
Hypophosphatasia	Associate	39519277
Intellectual Disability	Associate	32109419
Kashin Beck Disease	Associate	31220921
Lung Neoplasms	Associate	32648197
Lymphatic Metastasis	Stimulate	25851347
Malignant hyperthermia susceptibility type 4	Associate	15215162
Megalencephaly	Associate	33167890
Meningitis Aseptic	Associate	22586486
Mental Disorders	Associate	26235986
Microcephaly	Associate	33167890
Mosaic variegated aneuploidy syndrome	Associate	31515286
Neoplasm Invasiveness	Associate	15215162
Neoplasms	Stimulate	15215162
Neoplasms	Associate	25803821, 25851347, 28776571
Nerve Degeneration	Associate	22586486
Proteinuria	Associate	34616010
Triple Negative Breast Neoplasms	Associate	36075896
Urinary Bladder Neoplasms	Associate	15215162
Uterine Cervical Neoplasms	Associate	17311676

TRIO (trio Rho guanine nucleotide exchange factor)