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.	23096
Gene name Gene Name - the full gene name approved by the HGNC.	IQ motif and Sec7 domain ArfGEF 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IQSEC2
Synonyms (NCBI Gene) Gene synonyms aliases	BRAG1, IQ-ArfGEF, MRX1, MRX18, MRX78, XLID1
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.22
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organ

Show/Hide all(86)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607186	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs267607187	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs267607188	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs267607189	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs370573314	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs371450118	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, coding sequence variant, synonymous variant, 3 prime UTR variant, genic downstream transcript variant
rs374220843	G>A,T	Likely-benign, benign, pathogenic	Coding sequence variant, downstream transcript variant, synonymous variant, stop gained, genic downstream transcript variant
rs587777261	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs781846571	G>A,C	Likely-pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, intron variant, 3 prime UTR variant, coding sequence variant
rs781940286	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs782099475	G>A	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs782517076	C>A,G,T	Pathogenic	Stop gained, genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs782536136	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, intron variant, 3 prime UTR variant, coding sequence variant
rs782632137	C>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs782660318	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs782697291	G>A	Likely-pathogenic, benign	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs782748026	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs797044889	GC>-	Pathogenic	Inframe indel, genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs797044932	C>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs797045140	TG>-	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs797045629	T>C	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, synonymous variant, genic downstream transcript variant, intron variant, downstream transcript variant, coding sequence variant
rs797045630	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, synonymous variant, genic downstream transcript variant, intron variant, downstream transcript variant, coding sequence variant
rs875989799	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs878853144	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886041433	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886041481	G>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs886041767	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1057518993	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1057520858	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1057521657	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1060499660	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064793152	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs1064793569	->GGTG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064795324	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064795421	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064795460	G>A	Likely-pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064795512	->C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064795725	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1064795806	G>A	Likely-pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant
rs1064796614	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1085307630	G>A,C	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, intron variant
rs1085307736	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131691650	T>-	Pathogenic	Intron variant, downstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1131691887	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1556858900	A>G	Likely-pathogenic	Intron variant, 3 prime UTR variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1556858912	->GGCCT	Pathogenic	Intron variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1556859257	G>A	Pathogenic	Intron variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant
rs1556860401	->C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1556861311	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1556862167	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1556862426	TAGGCACACCTGAAGG>-	Likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, splice donor variant
rs1556863043	C>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1556863090	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863165	->G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863340	G>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863398	->G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863435	GCCGG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556863492	TAGAGGGG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556865060	A>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1556880284	GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC>AT	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1569290954	G>-,GG	Pathogenic	Coding sequence variant, intron variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant
rs1569291627	G>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, intron variant, 3 prime UTR variant, genic downstream transcript variant
rs1569291654	G>A	Pathogenic	Downstream transcript variant, coding sequence variant, intron variant, stop gained, 3 prime UTR variant, genic downstream transcript variant
rs1569291699	G>A	Likely-pathogenic	Downstream transcript variant, coding sequence variant, intron variant, stop gained, 3 prime UTR variant, genic downstream transcript variant
rs1569300277	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569302816	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1569305431	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602256663	->G	Likely-pathogenic	Coding sequence variant, intron variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant
rs1602257111	G>A	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, intron variant, 3 prime UTR variant, missense variant
rs1602257730	->G	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, intron variant, 3 prime UTR variant, genic downstream transcript variant
rs1602260263	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant, downstream transcript variant
rs1602264294	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602268590	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1602268620	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602277471	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1602277592	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602279457	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1602282739	C>G	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1602283534	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602284689	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1602291658	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1602291861	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602293475	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602293563	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602293823	->TAGGGGGGTT	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1602383045	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant

Show/Hide all(160)

miRTarBase ID	miRNA	Experiments	Reference
MIRT487979	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT487978	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT487977	hsa-miR-3139	PAR-CLIP	23592263
MIRT487976	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT487975	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT487974	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT487973	hsa-miR-940	PAR-CLIP	23592263
MIRT487972	hsa-miR-1321	PAR-CLIP	23592263
MIRT487970	hsa-miR-4739	PAR-CLIP	23592263
MIRT487971	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT487969	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT487968	hsa-miR-1827	PAR-CLIP	23592263
MIRT487967	hsa-miR-4419a	PAR-CLIP	23592263
MIRT487966	hsa-miR-4510	PAR-CLIP	23592263
MIRT487965	hsa-miR-6127	PAR-CLIP	23592263
MIRT487964	hsa-miR-6129	PAR-CLIP	23592263
MIRT487963	hsa-miR-6130	PAR-CLIP	23592263
MIRT487962	hsa-miR-6133	PAR-CLIP	23592263
MIRT487961	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT487959	hsa-miR-8077	PAR-CLIP	23592263
MIRT487960	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT487958	hsa-miR-4306	PAR-CLIP	23592263
MIRT487957	hsa-miR-4644	PAR-CLIP	23592263
MIRT487956	hsa-miR-5192	PAR-CLIP	23592263
MIRT487955	hsa-miR-3612	PAR-CLIP	23592263
MIRT487954	hsa-miR-650	PAR-CLIP	23592263
MIRT487953	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487951	hsa-miR-8085	PAR-CLIP	23592263
MIRT487952	hsa-miR-3175	PAR-CLIP	23592263
MIRT487950	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT487979	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT487978	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT487977	hsa-miR-3139	PAR-CLIP	23592263
MIRT487976	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT487975	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT487974	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT487973	hsa-miR-940	PAR-CLIP	23592263
MIRT487972	hsa-miR-1321	PAR-CLIP	23592263
MIRT487970	hsa-miR-4739	PAR-CLIP	23592263
MIRT487971	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT487969	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT487968	hsa-miR-1827	PAR-CLIP	23592263
MIRT487967	hsa-miR-4419a	PAR-CLIP	23592263
MIRT487966	hsa-miR-4510	PAR-CLIP	23592263
MIRT487965	hsa-miR-6127	PAR-CLIP	23592263
MIRT487964	hsa-miR-6129	PAR-CLIP	23592263
MIRT487963	hsa-miR-6130	PAR-CLIP	23592263
MIRT487962	hsa-miR-6133	PAR-CLIP	23592263
MIRT487961	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT487959	hsa-miR-8077	PAR-CLIP	23592263
MIRT487960	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT487958	hsa-miR-4306	PAR-CLIP	23592263
MIRT487957	hsa-miR-4644	PAR-CLIP	23592263
MIRT487956	hsa-miR-5192	PAR-CLIP	23592263
MIRT487955	hsa-miR-3612	PAR-CLIP	23592263
MIRT487954	hsa-miR-650	PAR-CLIP	23592263
MIRT487953	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487951	hsa-miR-8085	PAR-CLIP	23592263
MIRT487952	hsa-miR-3175	PAR-CLIP	23592263
MIRT487950	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT1070242	hsa-miR-106a	CLIP-seq
MIRT1070243	hsa-miR-106b	CLIP-seq
MIRT1070244	hsa-miR-17	CLIP-seq
MIRT1070245	hsa-miR-20a	CLIP-seq
MIRT1070246	hsa-miR-20b	CLIP-seq
MIRT1070247	hsa-miR-33a	CLIP-seq
MIRT1070248	hsa-miR-33b	CLIP-seq
MIRT1070249	hsa-miR-342-3p	CLIP-seq
MIRT1070250	hsa-miR-3607-3p	CLIP-seq
MIRT1070251	hsa-miR-3609	CLIP-seq
MIRT1070252	hsa-miR-3670	CLIP-seq
MIRT1070253	hsa-miR-3686	CLIP-seq
MIRT1070254	hsa-miR-3689a-5p	CLIP-seq
MIRT1070255	hsa-miR-3689b	CLIP-seq
MIRT1070256	hsa-miR-3689e	CLIP-seq
MIRT1070257	hsa-miR-3689f	CLIP-seq
MIRT1070258	hsa-miR-377	CLIP-seq
MIRT1070259	hsa-miR-4796-3p	CLIP-seq
MIRT1070260	hsa-miR-511	CLIP-seq
MIRT1070261	hsa-miR-519a	CLIP-seq
MIRT1070262	hsa-miR-519b-3p	CLIP-seq
MIRT1070263	hsa-miR-519c-3p	CLIP-seq
MIRT1070264	hsa-miR-519d	CLIP-seq
MIRT1070265	hsa-miR-548ah	CLIP-seq
MIRT1070266	hsa-miR-93	CLIP-seq
MIRT1070267	hsa-miR-1184	CLIP-seq
MIRT1070268	hsa-miR-1252	CLIP-seq
MIRT1070269	hsa-miR-1284	CLIP-seq
MIRT1070270	hsa-miR-217	CLIP-seq
MIRT1070271	hsa-miR-3120-5p	CLIP-seq
MIRT1070272	hsa-miR-4418	CLIP-seq
MIRT1070273	hsa-miR-4796-5p	CLIP-seq
MIRT1070274	hsa-miR-509-3-5p	CLIP-seq
MIRT1070275	hsa-miR-509-5p	CLIP-seq
MIRT1070268	hsa-miR-1252	CLIP-seq
MIRT1070242	hsa-miR-106a	CLIP-seq
MIRT1070243	hsa-miR-106b	CLIP-seq
MIRT2017276	hsa-miR-135a	CLIP-seq
MIRT2017277	hsa-miR-135b	CLIP-seq
MIRT1070244	hsa-miR-17	CLIP-seq
MIRT1070245	hsa-miR-20a	CLIP-seq
MIRT1070246	hsa-miR-20b	CLIP-seq
MIRT1070247	hsa-miR-33a	CLIP-seq
MIRT1070248	hsa-miR-33b	CLIP-seq
MIRT1070250	hsa-miR-3607-3p	CLIP-seq
MIRT1070251	hsa-miR-3609	CLIP-seq
MIRT2017278	hsa-miR-3684	CLIP-seq
MIRT1070253	hsa-miR-3686	CLIP-seq
MIRT1070254	hsa-miR-3689a-5p	CLIP-seq
MIRT1070255	hsa-miR-3689b	CLIP-seq
MIRT1070256	hsa-miR-3689e	CLIP-seq
MIRT1070257	hsa-miR-3689f	CLIP-seq
MIRT2017279	hsa-miR-4446-3p	CLIP-seq
MIRT2017280	hsa-miR-4656	CLIP-seq
MIRT2017281	hsa-miR-4668-5p	CLIP-seq
MIRT2017282	hsa-miR-4685-5p	CLIP-seq
MIRT2017283	hsa-miR-4731-5p	CLIP-seq
MIRT2017284	hsa-miR-4749-3p	CLIP-seq
MIRT1070259	hsa-miR-4796-3p	CLIP-seq
MIRT1070260	hsa-miR-511	CLIP-seq
MIRT1070261	hsa-miR-519a	CLIP-seq
MIRT1070262	hsa-miR-519b-3p	CLIP-seq
MIRT1070263	hsa-miR-519c-3p	CLIP-seq
MIRT1070264	hsa-miR-519d	CLIP-seq
MIRT1070265	hsa-miR-548ah	CLIP-seq
MIRT2017285	hsa-miR-548t	CLIP-seq
MIRT1070266	hsa-miR-93	CLIP-seq
MIRT2249178	hsa-miR-185	CLIP-seq
MIRT2249179	hsa-miR-1915	CLIP-seq
MIRT2249180	hsa-miR-2355-5p	CLIP-seq
MIRT2249181	hsa-miR-31	CLIP-seq
MIRT1070271	hsa-miR-3120-5p	CLIP-seq
MIRT2017278	hsa-miR-3684	CLIP-seq
MIRT2249182	hsa-miR-378	CLIP-seq
MIRT2249183	hsa-miR-378b	CLIP-seq
MIRT2249184	hsa-miR-378c	CLIP-seq
MIRT2249185	hsa-miR-378d	CLIP-seq
MIRT2249186	hsa-miR-378e	CLIP-seq
MIRT2249187	hsa-miR-378f	CLIP-seq
MIRT2249188	hsa-miR-378h	CLIP-seq
MIRT2249189	hsa-miR-378i	CLIP-seq
MIRT2249190	hsa-miR-383	CLIP-seq
MIRT2249191	hsa-miR-422a	CLIP-seq
MIRT2249192	hsa-miR-4257	CLIP-seq
MIRT2249193	hsa-miR-4323	CLIP-seq
MIRT2017279	hsa-miR-4446-3p	CLIP-seq
MIRT2249194	hsa-miR-4638-3p	CLIP-seq
MIRT2249195	hsa-miR-4649-3p	CLIP-seq
MIRT2017281	hsa-miR-4668-5p	CLIP-seq
MIRT2017282	hsa-miR-4685-5p	CLIP-seq
MIRT2249196	hsa-miR-4717-5p	CLIP-seq
MIRT2249197	hsa-miR-4772-5p	CLIP-seq
MIRT1070259	hsa-miR-4796-3p	CLIP-seq
MIRT1070261	hsa-miR-519a	CLIP-seq
MIRT1070262	hsa-miR-519b-3p	CLIP-seq
MIRT1070263	hsa-miR-519c-3p	CLIP-seq
MIRT2017285	hsa-miR-548t	CLIP-seq
MIRT2249198	hsa-miR-708	CLIP-seq
MIRT1070268	hsa-miR-1252	CLIP-seq
MIRT2017283	hsa-miR-4731-5p	CLIP-seq

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	26793055
GO:0005515	Function	Protein binding	IPI	30842726, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0032012	Process	Regulation of ARF protein signal transduction	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	27009485
GO:0050804	Process	Modulation of chemical synaptic transmission	IMP	27009485
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IDA	27009485
GO:0098685	Component	Schaffer collateral - CA1 synapse	IMP	27009485
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IDA	27009485
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IMP	27009485
GO:1900454	Process	Positive regulation of long-term synaptic depression	IEA

MIM	HGNC	e!Ensembl
300522	29059	ENSG00000124313

Protein

UniProt ID

Q5JU85

Protein name

IQ motif and SEC7 domain-containing protein 2

Protein function

Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.

PDB

6FAE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01369	Sec7	753 → 941	Sec7 domain	Domain
PF16453	IQ_SEC7_PH	961 → 1098	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver. {ECO:0000269|PubMed:9628581}.

Sequence

MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRD
LREESQLHRGELHRDPHGARDSPGRESQYQNLRETQFHHRELRESQFHQAARDVGYPNRE
GAYQNREAVYRDKERDASYPLQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHP
GREKEAGYSAAVGVGPRPPRERGQLSRGASRSSSPGAGGGHSTSTSTSPATTLQRKSDGE
NSRTVSVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGLPWAQRARLQP
ASVALRKQEEEEIKRSKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQ
YRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKAQNPAYFEGKPASLDEGAMAG
ARSHRLERGLPYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALN
CHPSGPMSEEPGSAQLEKRESKEQQEDSSATSFSDLPLYLDDTVPQQSPERLPSTEPPPQ
GRPEFWAPAPLPPVPPPVPSGTREDGSREEGTRRGPGCLECRDFRLRAAHLPLLTIEPPS
DSSVDLSDRSDRGSVHRQLVYEADGCSPHGTLKHKGPPGRAPIPHRHYPAPEGPAPAPPG
PLPPAPNSGTGPSGVAGGRRLGKCEAAGENSDGGDNESLESSSNSNETINCSSGSSSRDS
LREPPATGLCKQTYQRETRHSWDSPAFNNDVVQRRHYRIGLNLFNKKPEKGIQYLIERGF
LSDTPVGVAHFILERKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFSSMDLDDALRKF
QSHIRVQGEAQKVERLIEAFSQRYCVCNPALVRQFRNPDTIFILAFAIILLNTDMYSPSV
KAERKMKLDDFIKNLRGVDNGEDIPRDLLVGIYQRIQGRELRTNDDHVSQVQAVERMIVG
KKPVLSLPHRRLVCCCQLYEVPDPNRPQRLGLHQREVFLFNDLLVVTKIFQKKKILVTYS
FRQSFPLVEMHMQLFQNSYYQFGIKLLSAVPGGERKVLIIFNAPSLQDRLRFTSDLRESI
AEVQEMEKYRVESELEKQKGMMRPNASQPGGAKDSVNGTMARSSLEDTYGAGDGLKRGAL
SSSLRDLSDAGKRGRRNSVGSLDSTIEGSVISSPRPHQRMPPPPPPPPPEEYKSQRPVSN
SSSFLGSLFGSKRGKGPFQMPPPPTGQASASSSSASSTHHHHHHHHHGHSHGGLGVLPDG
QSKLQALHAQYCQGPGPAPPPYLPPQQPSLPPPPQQPPPLPQLGSIPPPPASAPPVGPHR
HFHAHGPVPGPQHYTLGRPGRAPRRGAGGHPQFAPHGRHPLHQPTSPLPLYSPAPQHPPA
HKQGPKHFIFSHHPQMMPAAGAAGGPGSRPPGGSYSHPHHPQSPLSPHSPIPPHPSYPPL
PPPSPHTPHSPLPPTSPHGPLHASGPPGTANPPSANPKAKPSRISTVV

Sequence length

1488

Interactions

View interactions

	KEGG
	Endocytosis

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	intellectual disability	rs878853144, rs1602284689	N/A
Mental Retardation, X-Linked	Intellectual disability, X-linked 1	rs267607188, rs1602264294, rs1060499660, rs587777261, rs1602291658, rs1064795512, rs374220843, rs797045140, rs1602291861, rs1131691887, rs1569302816, rs1602383045, rs875989799, rs1556863435, rs782660318 View all (26 more)	N/A
autism spectrum disorder	Autism spectrum disorder	rs1569305431	N/A

Show/Hide Unknown Diseases (3)

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.
Microcephaly	microcephaly	N/A	N/A	ClinVar
Neurodevelopmental Disorders	X-linked complex neurodevelopmental disorder, complex neurodevelopmental disorder	N/A	N/A	GenCC
Specific Learning Disorder	specific learning disability	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Persistent Infection	Associate	27009485

IQSEC2 (IQ motif and Sec7 domain ArfGEF 2)