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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	440073
Gene name	IQ motif and Sec7 domain ArfGEF 3
Gene symbol	IQSEC3
Synonyms (NCBI Gene)	-
Chromosome	12
Chromosome location	12p13.33

211

Show/Hide all (211)

miRTarBase ID	miRNA	Experiments	Reference
MIRT629248	hsa-miR-548ad-3p	HITS-CLIP	23824327
MIRT629247	hsa-miR-8485	HITS-CLIP	23824327
MIRT573507	hsa-miR-8080	PAR-CLIP	20371350
MIRT573506	hsa-miR-4779	PAR-CLIP	20371350
MIRT573505	hsa-miR-4716-3p	PAR-CLIP	20371350
MIRT573504	hsa-miR-6794-5p	PAR-CLIP	20371350
MIRT573502	hsa-miR-4292	PAR-CLIP	20371350
MIRT573503	hsa-miR-6791-5p	PAR-CLIP	20371350
MIRT573501	hsa-miR-3192-5p	PAR-CLIP	20371350
MIRT573500	hsa-miR-5008-5p	PAR-CLIP	20371350
MIRT573499	hsa-miR-4533	PAR-CLIP	20371350
MIRT573498	hsa-miR-765	PAR-CLIP	20371350
MIRT573497	hsa-miR-1291	PAR-CLIP	20371350
MIRT573496	hsa-miR-6775-3p	PAR-CLIP	20371350
MIRT573495	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT573494	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT573493	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT573492	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT573491	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT573490	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT573488	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT573489	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT573487	hsa-miR-4271	PAR-CLIP	20371350
MIRT573486	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT573485	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT573484	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT573483	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT573482	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT573481	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT573480	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT573479	hsa-miR-3689c	PAR-CLIP	20371350
MIRT573478	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT573477	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT629248	hsa-miR-548ad-3p	HITS-CLIP	23824327
MIRT629247	hsa-miR-8485	HITS-CLIP	23824327
MIRT573507	hsa-miR-8080	PAR-CLIP	20371350
MIRT573506	hsa-miR-4779	PAR-CLIP	20371350
MIRT573505	hsa-miR-4716-3p	PAR-CLIP	20371350
MIRT573504	hsa-miR-6794-5p	PAR-CLIP	20371350
MIRT573502	hsa-miR-4292	PAR-CLIP	20371350
MIRT573503	hsa-miR-6791-5p	PAR-CLIP	20371350
MIRT573501	hsa-miR-3192-5p	PAR-CLIP	20371350
MIRT573500	hsa-miR-5008-5p	PAR-CLIP	20371350
MIRT573499	hsa-miR-4533	PAR-CLIP	20371350
MIRT573498	hsa-miR-765	PAR-CLIP	20371350
MIRT573497	hsa-miR-1291	PAR-CLIP	20371350
MIRT573496	hsa-miR-6775-3p	PAR-CLIP	20371350
MIRT573495	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT573494	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT573493	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT573492	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT573491	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT573490	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT573488	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT573489	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT573487	hsa-miR-4271	PAR-CLIP	20371350
MIRT573486	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT573485	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT573484	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT573483	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT573482	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT573481	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT573480	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT573479	hsa-miR-3689c	PAR-CLIP	20371350
MIRT573478	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT573477	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT1070276	hsa-miR-1200	CLIP-seq
MIRT1070277	hsa-miR-1324	CLIP-seq
MIRT1070278	hsa-miR-145	CLIP-seq
MIRT1070279	hsa-miR-149	CLIP-seq
MIRT1070280	hsa-miR-184	CLIP-seq
MIRT1070281	hsa-miR-1909	CLIP-seq
MIRT1070282	hsa-miR-1913	CLIP-seq
MIRT1070283	hsa-miR-200b	CLIP-seq
MIRT1070284	hsa-miR-200c	CLIP-seq
MIRT1070285	hsa-miR-2467-3p	CLIP-seq
MIRT1070286	hsa-miR-3074-5p	CLIP-seq
MIRT1070287	hsa-miR-3169	CLIP-seq
MIRT1070288	hsa-miR-3175	CLIP-seq
MIRT1070289	hsa-miR-3184	CLIP-seq
MIRT1070290	hsa-miR-3192	CLIP-seq
MIRT1070291	hsa-miR-324-3p	CLIP-seq
MIRT1070292	hsa-miR-3614-5p	CLIP-seq
MIRT1070293	hsa-miR-3616-3p	CLIP-seq
MIRT1070294	hsa-miR-3664-3p	CLIP-seq
MIRT1070295	hsa-miR-3669	CLIP-seq
MIRT1070296	hsa-miR-3915	CLIP-seq
MIRT1070297	hsa-miR-3925-3p	CLIP-seq
MIRT1070298	hsa-miR-3928	CLIP-seq
MIRT1070299	hsa-miR-3929	CLIP-seq
MIRT1070300	hsa-miR-421	CLIP-seq
MIRT1070301	hsa-miR-423-5p	CLIP-seq
MIRT1070302	hsa-miR-4277	CLIP-seq
MIRT1070303	hsa-miR-429	CLIP-seq
MIRT1070304	hsa-miR-4324	CLIP-seq
MIRT1070305	hsa-miR-4419b	CLIP-seq
MIRT1070306	hsa-miR-4436a	CLIP-seq
MIRT1070307	hsa-miR-4478	CLIP-seq
MIRT1070308	hsa-miR-450b-3p	CLIP-seq
MIRT1070309	hsa-miR-4515	CLIP-seq
MIRT1070310	hsa-miR-4691-3p	CLIP-seq
MIRT1070311	hsa-miR-4709-5p	CLIP-seq
MIRT1070312	hsa-miR-4722-3p	CLIP-seq
MIRT1070313	hsa-miR-4726-3p	CLIP-seq
MIRT1070314	hsa-miR-4755-3p	CLIP-seq
MIRT1070315	hsa-miR-544b	CLIP-seq
MIRT1070316	hsa-miR-764	CLIP-seq
MIRT1070317	hsa-miR-766	CLIP-seq
MIRT1070318	hsa-miR-769-3p	CLIP-seq
MIRT1070319	hsa-miR-892b	CLIP-seq
MIRT1550188	hsa-miR-1254	CLIP-seq
MIRT1550189	hsa-miR-1908	CLIP-seq
MIRT1070282	hsa-miR-1913	CLIP-seq
MIRT1550190	hsa-miR-2861	CLIP-seq
MIRT1550191	hsa-miR-3116	CLIP-seq
MIRT1550192	hsa-miR-3127-5p	CLIP-seq
MIRT1070291	hsa-miR-324-3p	CLIP-seq
MIRT1550193	hsa-miR-3621	CLIP-seq
MIRT1550194	hsa-miR-3918	CLIP-seq
MIRT1550195	hsa-miR-4446-3p	CLIP-seq
MIRT1550196	hsa-miR-4651	CLIP-seq
MIRT1070312	hsa-miR-4722-3p	CLIP-seq
MIRT1550197	hsa-miR-4757-5p	CLIP-seq
MIRT1550198	hsa-miR-541	CLIP-seq
MIRT1550199	hsa-miR-608	CLIP-seq
MIRT1550200	hsa-miR-615-5p	CLIP-seq
MIRT1550201	hsa-miR-654-5p	CLIP-seq
MIRT1550202	hsa-miR-661	CLIP-seq
MIRT1550203	hsa-miR-663	CLIP-seq
MIRT2017286	hsa-miR-1233	CLIP-seq
MIRT2017287	hsa-miR-1286	CLIP-seq
MIRT2017288	hsa-miR-1301	CLIP-seq
MIRT2017289	hsa-miR-146b-3p	CLIP-seq
MIRT1070282	hsa-miR-1913	CLIP-seq
MIRT2017290	hsa-miR-193a-5p	CLIP-seq
MIRT1550190	hsa-miR-2861	CLIP-seq
MIRT2017291	hsa-miR-3173-5p	CLIP-seq
MIRT1070291	hsa-miR-324-3p	CLIP-seq
MIRT2017292	hsa-miR-342-5p	CLIP-seq
MIRT2017293	hsa-miR-3944-5p	CLIP-seq
MIRT2017294	hsa-miR-4283	CLIP-seq
MIRT2017295	hsa-miR-4308	CLIP-seq
MIRT2017296	hsa-miR-4419a	CLIP-seq
MIRT1550195	hsa-miR-4446-3p	CLIP-seq
MIRT2017297	hsa-miR-4459	CLIP-seq
MIRT2017298	hsa-miR-4510	CLIP-seq
MIRT2017299	hsa-miR-4640-5p	CLIP-seq
MIRT1550196	hsa-miR-4651	CLIP-seq
MIRT2017300	hsa-miR-4660	CLIP-seq
MIRT2017301	hsa-miR-4664-5p	CLIP-seq
MIRT2017302	hsa-miR-4667-5p	CLIP-seq
MIRT2017303	hsa-miR-4675	CLIP-seq
MIRT2017304	hsa-miR-4700-5p	CLIP-seq
MIRT2017305	hsa-miR-4722-5p	CLIP-seq
MIRT2017306	hsa-miR-4726-5p	CLIP-seq
MIRT2017307	hsa-miR-4741	CLIP-seq
MIRT1550197	hsa-miR-4757-5p	CLIP-seq
MIRT2017308	hsa-miR-5047	CLIP-seq
MIRT1550198	hsa-miR-541	CLIP-seq
MIRT1550199	hsa-miR-608	CLIP-seq
MIRT2017309	hsa-miR-626	CLIP-seq
MIRT1550201	hsa-miR-654-5p	CLIP-seq
MIRT2017310	hsa-miR-874	CLIP-seq
MIRT2017286	hsa-miR-1233	CLIP-seq
MIRT2017287	hsa-miR-1286	CLIP-seq
MIRT2249199	hsa-miR-1302	CLIP-seq
MIRT1070281	hsa-miR-1909	CLIP-seq
MIRT1070282	hsa-miR-1913	CLIP-seq
MIRT2249200	hsa-miR-3122	CLIP-seq
MIRT1070291	hsa-miR-324-3p	CLIP-seq
MIRT2249201	hsa-miR-3913-5p	CLIP-seq
MIRT2017293	hsa-miR-3944-5p	CLIP-seq
MIRT2017294	hsa-miR-4283	CLIP-seq
MIRT2249202	hsa-miR-4298	CLIP-seq
MIRT2017296	hsa-miR-4419a	CLIP-seq
MIRT2017297	hsa-miR-4459	CLIP-seq
MIRT2249203	hsa-miR-4489	CLIP-seq
MIRT2017298	hsa-miR-4510	CLIP-seq
MIRT1550196	hsa-miR-4651	CLIP-seq
MIRT2249204	hsa-miR-4667-3p	CLIP-seq
MIRT2017302	hsa-miR-4667-5p	CLIP-seq
MIRT2017304	hsa-miR-4700-5p	CLIP-seq
MIRT2017305	hsa-miR-4722-5p	CLIP-seq
MIRT2249205	hsa-miR-4731-5p	CLIP-seq
MIRT1550199	hsa-miR-608	CLIP-seq
MIRT2249206	hsa-miR-615-3p	CLIP-seq
MIRT2249207	hsa-miR-637	CLIP-seq
MIRT2249208	hsa-miR-642b	CLIP-seq
MIRT1070282	hsa-miR-1913	CLIP-seq
MIRT1550190	hsa-miR-2861	CLIP-seq
MIRT2389460	hsa-miR-3144-5p	CLIP-seq
MIRT2389461	hsa-miR-3191	CLIP-seq
MIRT1070291	hsa-miR-324-3p	CLIP-seq
MIRT2389462	hsa-miR-326	CLIP-seq
MIRT2389463	hsa-miR-330-5p	CLIP-seq
MIRT1550196	hsa-miR-4651	CLIP-seq
MIRT2389464	hsa-miR-4652-5p	CLIP-seq
MIRT2017302	hsa-miR-4667-5p	CLIP-seq
MIRT2017304	hsa-miR-4700-5p	CLIP-seq
MIRT1550197	hsa-miR-4757-5p	CLIP-seq
MIRT1550198	hsa-miR-541	CLIP-seq
MIRT1550199	hsa-miR-608	CLIP-seq
MIRT2249207	hsa-miR-637	CLIP-seq
MIRT1550201	hsa-miR-654-5p	CLIP-seq
MIRT1550202	hsa-miR-661	CLIP-seq
MIRT1070276	hsa-miR-1200	CLIP-seq
MIRT1070285	hsa-miR-2467-3p	CLIP-seq
MIRT1070296	hsa-miR-3915	CLIP-seq
MIRT1070298	hsa-miR-3928	CLIP-seq
MIRT1070304	hsa-miR-4324	CLIP-seq
MIRT1070315	hsa-miR-544b	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0032012	Process	Regulation of ARF protein signal transduction	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0060077	Component	Inhibitory synapse	IEA
GO:0098690	Component	Glycinergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099629	Component	Postsynaptic specialization of symmetric synapse	IEA

MIM	HGNC	e!Ensembl
612118	29193	ENSG00000120645

Q9UPP2

Protein name

IQ motif and SEC7 domain-containing protein 3

Protein function

Acts as a guanine nucleotide exchange factor (GEF) for ARF1.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01369	Sec7	651 → 839	Sec7 domain	Domain
PF16453	IQ_SEC7_PH	859 → 996	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed specifically in the adult brain, predominantly in the cerebral cortex and the olfactory bulb, but not in the fetal brain. Expressed only in mature neurons, but not in undifferentiated neural stem precursor cells (NSPCs), nor

Sequence

MESLLENPVRAVLYLKELTAIVQNQQSLIHTQRERIDELERRLDELSAENRSLWEHQQLL
QAQPPPGLVPPSSAPLPAAPATAPAAAARAQEPLQDQGQRSAAAPHPAPDRPPRQHHGQL
LEQPQRGPGSRAHTPQSPHKHLGTQGAVTDKEKERPPSCCAAAGALLQHKSPSALGKGVL
SRRPENETVLHQFCCPAADACSDLASQSDGSCTQAGGGMEDSVVAAAAVAAGRPSAHAPK
AQAQELQEEEERPGAGAASPRAGPQHKASPGRQQPALATALCPHAPAASDYELSLDLKNK
QIEMLEHKYGGHLVSRRAACTIQTAFRQYQLSKNFEKIRNSLLESRLPRRISLRKVRSPT
AESLAAEKALMEGYGLVGLPLVRSPSLPPTFAGTLTELEDSFTEQVQSLAKSIDDALSTW
SLKTMCSLRESGAYQLHQALQAAAGPPGLEAEGRAPESAGPGPGDDAAETPGLPPAHSGT
LMMAFRDVTVQIANQNISVSSSTALSVANCLGAQTVQAPAEPAAGKAEQGETSGREAPEA
PAVGREDASAEDSCAEAAASGAADGATAPKTEEEEEEEETAEVGRGAEAEAGDLEQLSSS
STSTKSAKSGSEASASASKDALQAMILSLPRYHCENPASCKSPTLSTDTLRKRLYRIGLN
LFNINPDKGIQFLISRGFIPDTPIGVAHFLLQRKGLSRQMIGEFLGNSKKQFNRDVLDCV
VDEMDFSSMELDEALRKFQAHIRVQGEAQKVERLIEAFSQRYCMCNPEVVQQFHNPDTIF
ILAFAIILLNTDMYSPNIKPDRKMMLEDFIRNLRGVDDGADIPRELVVGIYERIQQKELK
SNEDHVTYVTKVEKSIVGMKTVLSVPHRRLVCCSRLFEVTDVNKLQKQAAHQREVFLFND
LLVILKLCPKKKSSSTYTFCKSVGLLGMQFQLFENEYYSHGITLVTPLSGSEKKQVLHFC
ALGSDEMQKFVEDLKESIAEVTELEQIRIEWELEKQQGTKTLSFKPCGAQGDPQSKQGSP
TAKREAALRERPAESTVEVSIHNRLQTSQHNSGLGAERGAPVPPPDLQPSPPRQQTPPLP
PPPPTPPGTLVQCQQIVKVIVLDKPCLARMEPLLSQALSCYTSSSSDSCGSTPLGGPGSP
VKVTHQPPLPPPPPPYNHPHQFCPPGSLLHGHRYSSGSRSLV

Sequence length

1182

Interactions

View interactions

	KEGG
	Endocytosis

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IQSEC3-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	Pubtator	27219343	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33170908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35676651	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31130284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	31680123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

IQSEC3 (IQ motif and Sec7 domain ArfGEF 3)