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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IQSEC2 Gene

protein-coding GIFtS: 54
GCID: GC0XM053278

IQ motif and Sec7 domain 2

Explore 5 diseases affiliated with
IQSEC2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
IQ Motif And Sec7 Domain 2¹ ²		Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1²
KIAA0522¹ ³ ⁵		Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1b²
MRX1² ⁵		Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1c²
BRAG1²		IQ Motif And SEC7 Domain-Containing Protein 2²

External Ids:	HGNC: 29059¹	Entrez Gene: 23096²	Ensembl: ENSG00000124313⁷	OMIM: 300522⁵	UniProtKB: Q5JU85³

Export aliases for IQSEC2 gene to outside databases

Previous GC identifers: GC0XM053146 GC0XM050327

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IQSEC2:

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 organization through the activation of selected ARF substrates including ARF1 and ARF6.

Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced

transcript variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Aug 2011)

Gene Wiki entry for IQSEC2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011630.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IQSEC2 gene promoter:
NF-1/L NF-1 Nkx2-5 HEN1 AREB6 POU2F1 CP2 POU2F1a Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IQSEC2 promoter sequence

Search SABiosciences Chromatin IP Primers for IQSEC2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IQSEC2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.22 Ensembl cytogenetic band: Xp11.22 HGNC cytogenetic band: Xp11.23

IQSEC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IQSEC2 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM053278: view genomic region (about GC identifiers)

Start:	53,262,058 bp from pter	End:	53,350,522 bp from pter
Size:	88,465 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IQEC2_HUMAN, Q5JU85 (See protein sequence)

Recommended Name: IQ motif and SEC7 domain-containing protein 2

Size: 1478 amino acids; 161736 Da

Subcellular location: Cytoplasm (Potential)

Secondary accessions: B3KT97 C7SDG1 O60275 Q5JUX1

Alternative splicing: 3 isoforms: Q5JU85-1 Q5JU85-2 Q5JU85-3 (Ref.1 (BAA25448) sequence differs from that shown due to erroneous initiation (Translation N-terminally shortened) and a frameshift in position 1458)

Explore the universe of human proteins at neXtProt for IQSEC2: NX_Q5JU85

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5JU85

IQSEC2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001104595.1 NP_001230126.1 NP_055890.1

ENSEMBL proteins:

ENSP00000379712 ENSP00000364514 ENSP00000364517

Human Recombinant Protein Products for IQSEC2:

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	Uscn Proteins for IQSEC2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IBA	--
GO:0005737	cytoplasm	IEA	--
GO:0005802	NOT trans-Golgi network	IBA	--
GO:0030054	cell junction	IBA	--

IQSEC2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IQSEC2 for domains About GeneDecksing

5 InterPro domains/families:

IPR000904 Sec7

IPR000048 IQ_motif_EF-hand-BS

IPR001849 Pleckstrin_homology

IPR023394 SEC7_alpha_orthog

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry Q5JU85

ProtoNet protein and cluster: Q5JU85

1 Blocks protein family: IPB000904 SEC7-like domain

UniProtKB/Swiss-Prot: IQEC2_HUMAN, Q5JU85

Similarity: Belongs to the BRAG family

Similarity: Contains 1 IQ domain

Similarity: Contains 1 PH domain

Similarity: Contains 1 SEC7 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IBA	--
GO:0005543	phospholipid binding	IEA	--

IQSEC2 for ontologies About GeneDecksing

Animal Models:

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miRNA Products:		OriGene 3'-UTR Clone (see all 2): IQSEC2 Browse MicroRNA Expression Plasmids
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		hsa-miR-3607-3p hsa-miR-1321 hsa-miR-300 hsa-miR-106a hsa-miR-374a hsa-miR-519a hsa-miR-4267 hsa-miR-3916

		SwitchGear 3'UTR luciferase reporter plasmid: IQSEC2 3' UTR sequence

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IQSEC2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Endocytosis

Endocytosis

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for IQSEC2):

Endocytosis

IQSEC2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for IQSEC2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5 Interacting proteins for IQSEC2 (Q5JU85³ ENSP00000379712⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DLG4	P78352³	I2D: score=1
YWHAB	P31946³	I2D: score=1
BAIAP2L1	ENSP00000005260⁴	STRING: ENSP00000005260
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269
BAIAP2	ENSP00000316338⁴	STRING: ENSP00000316338

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016192	NOT vesicle-mediated transport	IBA	--
GO:0030036	actin cytoskeleton organization	IBA	--
GO:0032012	regulation of ARF protein signal transduction	IEA	--

IQSEC2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IQSEC2
Search CenterWatch for drugs/clinical trials and news about IQSEC2 / IQEC2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IQSEC2 gene (3 alternative transcripts):

NM_001111125.2 NM_001243197.1 NM_015075.1

Unigene Cluster for IQSEC2:

IQ motif and Sec7 domain 2

Hs.496138 [show with all ESTs]

Unigene Representative Sequence: NM_001111125

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000396435(uc004dsc.3 uc004dsd.3) ENST00000375365(uc022bxf.1)

ENST00000485377(uc004dsf.2) ENST00000462054(uc004dse.2) ENST00000498281

ENST00000375368

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		hsa-miR-3607-3p hsa-miR-1321 hsa-miR-300 hsa-miR-106a hsa-miR-374a hsa-miR-519a hsa-miR-4267 hsa-miR-3916

		SwitchGear 3'UTR luciferase reporter plasmid: IQSEC2 3' UTR sequence

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Additional cDNA sequence:

AB011094.1 AK095232.1 BC038213.1 BC044252.1 BC108674.1 FJ154890.1 FJ154891.1 FJ154892.1

FJ154893.1

11 DOTS entries:

DT.100017063 DT.97769073 DT.400728 DT.208794 DT.92018383 DT.121309121 DT.92033421 DT.95364737

DT.99998799 DT.91639112 DT.95329369

24/28 AceView cDNA sequences (see all 28):

Z42970 Z39089 AI216367 CB154423 BI859372 AA043180 AI356151 BQ893281

AI589811 N27865 BV175273 BI837250 N40638 BC044252 AI393443 AA043179

AB011094 AK095232 AW960862 BF880978 BF375182 BQ224456 BE277403 BF571239

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for IQSEC2 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8
SP1:									-		-
SP2:
SP3:									-
SP4:

ECgene alternative splicing isoforms for IQSEC2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IQSEC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTCTGCCA

About this image
See IQSEC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IQSEC2

SOURCE GeneReport for Unigene cluster: Hs.496138

UniProtKB/Swiss-Prot: IQEC2_HUMAN, Q5JU85

Tissue specificity: Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary,

prostate and liver

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for IQSEC2 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	IQSEC2⁶	--	74(a)	1 ↔ 1	2(89566844-89604826)
zebrafish (Danio rerio)	Actinopterygii	LOC797187¹	novel protein similar to vertebrate IQ motif and Sec7 more	63.61(n) 65.7(a)		797187 XM_001337607.4 XP_001337643.4
fruit fly (Drosophila melanogaster)	Insecta	siz⁶	schizo	24(a)	1 → many	3L(21027635-21068544)
worm (Caenorhabditis elegans)	Secernentea	M02B7.5⁶	Protein M02B7.5	25(a)	1 → many	IV(3808075-3819318)
rice (Oryza sativa)	Liliopsida	--	guanine nucleotide exchange family protein, putati...	3(a)	1 → many	6(25049896-25054632)

ENSEMBL Gene Tree for IQSEC2 (if available)
TreeFam Gene Tree for IQSEC2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for IQSEC2 gene

PSD3² GBF1² CYTH3² IQSEC3² CYTH2² ARFGEF2² PSD4² ARFGEF1²

IQSEC1² PSD2² PSD² CYTH4² CYTH1² FBXO8²

5 SIMAP similar genes for IQSEC2 using alignment to 2 protein entries: IQEC2_HUMAN (see all proteins):

IQSEC1 CYTH1 FLJ00017 MST051 IQSEC3

IQSEC2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs183536885^1,2		--	53261640(+)	`ATCCTA/GTGAAA`	2	--	ds500¹ int¹		0	--	--	--	--
rs188812976^1,2		--	53261886(+)	`GTGTAA/TGAAAT`	2	--	ds500¹ int¹		0	--	--	--	--
rs12851791^1,2	C,F,H	--	53262303(+)	`GGCAAG/AAAGAG`	2	--	ut3¹ trp³		13		NS EA NA	1627
rs190837040^1,2		--	53262498(+)	`CTCTCC/TCCAGG`	2	--	ut3¹		0	--	--	--	--
rs113936224^1,2	C	--	53262530(+)	`CCCAGC/TGAGGT`	2	--	ut3¹		1		CSA	2
rs201449331^1,2		--	53262660(+)	`CTGAG-/CCCCCC`	2	--	ut3¹		0	--	--	--	--
rs182469318^1,2		--	53262666(+)	`CCCCCA/CCAAAA`	2	--	ut3¹		0	--	--	--	--
rs59407104^1,2	C	--	53262949(+)	`ACAGAG/ACGCTC`	2	--	ut3¹		1		WA	2
rs186748874^1,2	C	--	53263103(+)	`AAAGTA/GGGGAA`	2	--	ut3¹		0	--	--	--	--
rs191886831^1,2	C	--	53263460(+)	`GTTGGC/TTGTGC`	3	T A	mis¹ ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for IQSEC2 (53262058 - 53350522 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for IQSEC2
1 CNV: 23256
Human Gene Mutation Database (HGMD): IQSEC2

Locus Specific Mutation Databases (LSDB): IQSEC2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IQSEC2

DNA2.0 Custom Variant and Variant Library Synthesis for IQSEC2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IQSEC2 for disorders           About GeneDecksing

OMIM gene information: 300522
OMIM disorders: 309530
UniProtKB/Swiss-Prot: IQEC2_HUMAN, Q5JU85

Defects in IQSEC2 are the cause of mental retardation X-linked type 1 (MRX1) [MIM:309530]. Mental retardation

is characterized by significantly below average general intellectual functioning associated with impairments in

adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked

mental retardation which also present with associated physical, neurological and/or psychiatric manifestations,

intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation

5 diseases for IQSEC2: About MalaCards

mental retardation, x-linked mental retardation, x-linked, 1 x inactivation intellectual disability

prostatitis

Export disorders for IQSEC2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for IQSEC2 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with IQSEC2)

Utopia: connect your pdf to the dynamic
world of online information

Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)^{1, 2, 3} Nagase T....Ohara O. (1998)
Mutations in the guanine nucleotide exchange factor g ene IQSEC2 cause nonsyndromic intellectual disability. (PubMed id 20473311)^{1, 2} Shoubridge C....GAccz J. (2010)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual di sability. (PubMed id 21686261)¹ Shoubridge C....Harvey R.J. (2010)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-link ed infantile spasms (ISSX) syndrome. (PubMed id 21479374)¹ Morleo M....Franco B. (2008)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
Composition of the synaptic PSD-95 complex. (PubMed id 17623647)¹ Dosemeci A....Markey S.P. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23096	HGNC: 29059	AceView: IQSEC2	Ensembl:ENSG00000124313	euGenes: HUgn23096
ECgene: IQSEC2	Kegg: 23096	H-InvDB: IQSEC2

(According to HUGE)
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HUGE: KIAA0522

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for IQSEC2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for IQSEC2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for IQSEC2 gene:
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GeneCards and IP:
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IQ motif and Sec7 domain 2

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