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Aliases for IQSEC3 Gene

Aliases for IQSEC3 Gene

  • IQ Motif And Sec7 Domain 3 2 3 5
  • KIAA1110 4

External Ids for IQSEC3 Gene

Previous GeneCards Identifiers for IQSEC3 Gene

  • GC12P000057
  • GC12P000176

Summaries for IQSEC3 Gene

GeneCards Summary for IQSEC3 Gene

IQSEC3 (IQ Motif And Sec7 Domain 3) is a Protein Coding gene. Diseases associated with IQSEC3 include Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Endocytosis. GO annotations related to this gene include ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC2.

UniProtKB/Swiss-Prot for IQSEC3 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IQSEC3 Gene

Genomics for IQSEC3 Gene

Regulatory Elements for IQSEC3 Gene

Enhancers for IQSEC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F000138 1.2 Ensembl ENCODE 39.8 +72.2 72164 1.3 ZNF362 MAZ RNF2 MAX ZFHX2 CBX5 MYC PRDM1 EZH2 TRIM28 IQSEC3 LOC105379613 LOC574538
GH12F000162 0.4 ENCODE 26.2 +96.3 96322 0.3 ZNF263 MAZ ZEB2 BCL11B ZFP69B ZNF366 ZNF692 PATZ1 ZNF341 ZNF600 IQSEC3 ENSG00000256694 LOC574538
GH12F000163 0.6 ENCODE 25.6 +96.0 96015 0.2 ZNF263 MAZ ZEB2 BCL11B ZFP69B ZNF366 ZNF692 PATZ1 GLIS1 ZNF341 IQSEC3 ENSG00000256694 LOC574538
GH12F000166 0.2 ENCODE 18.4 +100.4 100435 1.6 ZFHX2 SCRT2 IRF1 EGR2 IQSEC3 ENSG00000256694 ENSG00000256540
GH12F000168 1.1 Ensembl 17.4 +102.5 102536 1.4 CTCF PKNOX1 POLR2A BHLHE40 ZIC2 MYC NR2F2 IQSEC3 ENSG00000256540 ENSG00000256694
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IQSEC3 on UCSC Golden Path with GeneCards custom track

Promoters for IQSEC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001460620 135 601 ZNF263 MAZ SIN3A REST ZFHX2 CREB1 NR2F6 IRF1 CREM ZBTB26

Genomic Location for IQSEC3 Gene

Chromosome:
12
Start:
66,765 bp from pter
End:
178,460 bp from pter
Size:
111,696 bases
Orientation:
Plus strand

Genomic View for IQSEC3 Gene

Genes around IQSEC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IQSEC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IQSEC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IQSEC3 Gene

Proteins for IQSEC3 Gene

  • Protein details for IQSEC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPP2-IQEC3_HUMAN
    Recommended name:
    IQ motif and SEC7 domain-containing protein 3
    Protein Accession:
    Q9UPP2
    Secondary Accessions:
    • A6NIF2
    • A6NKV9
    • Q8TB43

    Protein attributes for IQSEC3 Gene

    Size:
    1182 amino acids
    Molecular mass:
    127621 Da
    Quaternary structure:
    • Interacts with DLG1 and DLG4.

    Alternative splice isoforms for IQSEC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IQSEC3 Gene

Post-translational modifications for IQSEC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IQSEC3 Gene

Domains & Families for IQSEC3 Gene

Suggested Antigen Peptide Sequences for IQSEC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UPP2

UniProtKB/Swiss-Prot:

IQEC3_HUMAN :
  • Contains 1 IQ domain.
  • Belongs to the BRAG family.
Domain:
  • Contains 1 IQ domain.
  • Contains 1 PH domain.
  • Contains 1 SEC7 domain.
Family:
  • Belongs to the BRAG family.
genes like me logo Genes that share domains with IQSEC3: view

No data available for Gene Families for IQSEC3 Gene

Function for IQSEC3 Gene

Molecular function for IQSEC3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a guanine nucleotide exchange factor (GEF) for ARF1.

Gene Ontology (GO) - Molecular Function for IQSEC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with IQSEC3: view
genes like me logo Genes that share phenotypes with IQSEC3: view

Animal Models for IQSEC3 Gene

MGI Knock Outs for IQSEC3:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IQSEC3 Gene

Localization for IQSEC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IQSEC3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IQSEC3 Gene COMPARTMENTS Subcellular localization image for IQSEC3 gene
Compartment Confidence
cytosol 3
plasma membrane 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for IQSEC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0045211 postsynaptic membrane IEA --
GO:0060077 inhibitory synapse IEA --
genes like me logo Genes that share ontologies with IQSEC3: view

Pathways & Interactions for IQSEC3 Gene

SuperPathways for IQSEC3 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with IQSEC3: view

Pathways by source for IQSEC3 Gene

1 KEGG pathway for IQSEC3 Gene

Interacting Proteins for IQSEC3 Gene

Gene Ontology (GO) - Biological Process for IQSEC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030036 actin cytoskeleton organization IBA --
GO:0032012 regulation of ARF protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with IQSEC3: view

No data available for SIGNOR curated interactions for IQSEC3 Gene

Drugs & Compounds for IQSEC3 Gene

(3) Drugs for IQSEC3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with IQSEC3: view

Transcripts for IQSEC3 Gene

Unigene Clusters for IQSEC3 Gene

IQ motif and Sec7 domain 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IQSEC3 Gene

No ASD Table

Relevant External Links for IQSEC3 Gene

GeneLoc Exon Structure for
IQSEC3
ECgene alternative splicing isoforms for
IQSEC3

Expression for IQSEC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IQSEC3 Gene

mRNA differential expression in normal tissues according to GTEx for IQSEC3 Gene

This gene is overexpressed in Brain - Cerebellum (x7.4), Brain - Cerebellar Hemisphere (x6.3), Brain - Cortex (x5.7), Brain - Frontal Cortex (BA9) (x4.7), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for IQSEC3 Gene

This gene is overexpressed in Fetal gut (28.3), Frontal cortex (13.6), and Retina (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IQSEC3 Gene



Protein tissue co-expression partners for IQSEC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IQSEC3 Gene:

IQSEC3

SOURCE GeneReport for Unigene cluster for IQSEC3 Gene:

Hs.536319

mRNA Expression by UniProt/SwissProt for IQSEC3 Gene:

Q9UPP2-IQEC3_HUMAN
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 in glioma cells.
genes like me logo Genes that share expression patterns with IQSEC3: view

Primer Products

Orthologs for IQSEC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for IQSEC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IQSEC3 34 35
  • 95.93 (n)
dog
(Canis familiaris)
Mammalia IQSEC3 34 35
  • 89.25 (n)
cow
(Bos Taurus)
Mammalia IQSEC3 34 35
  • 87.11 (n)
mouse
(Mus musculus)
Mammalia Iqsec3 34 16 35
  • 84.87 (n)
rat
(Rattus norvegicus)
Mammalia Iqsec3 34
  • 84.5 (n)
oppossum
(Monodelphis domestica)
Mammalia IQSEC3 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IQSEC3 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves IQSEC3 34 35
  • 73.88 (n)
lizard
(Anolis carolinensis)
Reptilia IQSEC3 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqsec3 34
  • 66.6 (n)
zebrafish
(Danio rerio)
Actinopterygii iqsec3b 35
  • 62 (a)
OneToMany
LOC798516 34
  • 59.49 (n)
iqsec3a 35
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta siz 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for IQSEC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IQSEC3 Gene

ENSEMBL:
Gene Tree for IQSEC3 (if available)
TreeFam:
Gene Tree for IQSEC3 (if available)

Paralogs for IQSEC3 Gene

(5) SIMAP similar genes for IQSEC3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with IQSEC3: view

Variants for IQSEC3 Gene

Sequence variations from dbSNP and Humsavar for IQSEC3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10774454 -- 107,862(+) CTTAC(A/G)GAGTA intron-variant
rs10849552 -- 107,657(+) CGCCC(A/G)CCTCG intron-variant
rs10849555 -- 107,888(+) TCCTT(A/G)TGAGT intron-variant
rs11061764 -- 177,666(+) CTCAT(G/T)GTCAG intron-variant, utr-variant-3-prime
rs11064481 -- 106,049(+) CCCAT(C/G)AGAGA intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for IQSEC3 Gene

Variant ID Type Subtype PubMed ID
dgv1325n100 CNV gain+loss 25217958
dgv1326n100 CNV gain 25217958
dgv1327n100 CNV gain+loss 25217958
dgv1328n100 CNV gain 25217958
dgv1329n100 CNV gain 25217958
dgv1330n100 CNV gain 25217958
dgv1331n100 CNV gain 25217958
dgv2240n54 CNV loss 21841781
dgv2241n54 CNV loss 21841781
dgv241e214 CNV gain 21293372
dgv429e212 CNV loss 25503493
dgv430e212 CNV gain 25503493
dgv745n106 CNV duplication 24896259
dgv76e215 CNV deletion 23714750
dgv87n21 CNV loss 19592680
esv1788942 CNV insertion 17803354
esv1944737 CNV deletion 18987734
esv24198 CNV gain+loss 19812545
esv2445422 CNV insertion 19546169
esv2661929 CNV deletion 23128226
esv2668905 CNV deletion 23128226
esv3386480 CNV duplication 20981092
esv3580005 CNV loss 25503493
esv3628219 CNV loss 21293372
esv3628220 CNV gain 21293372
esv3628221 CNV gain 21293372
esv3628222 CNV loss 21293372
esv3628223 CNV gain 21293372
esv3628224 CNV loss 21293372
esv3628226 CNV gain 21293372
nsv1035539 CNV gain 25217958
nsv1035587 CNV gain 25217958
nsv1041720 CNV gain 25217958
nsv1045572 CNV gain 25217958
nsv1050434 CNV loss 25217958
nsv1069628 CNV deletion 25765185
nsv1070078 CNV deletion 25765185
nsv1075437 CNV duplication 25765185
nsv1076386 CNV duplication 25765185
nsv1121481 CNV deletion 24896259
nsv1121845 CNV deletion 24896259
nsv1122685 CNV deletion 24896259
nsv1130662 CNV deletion 24896259
nsv1141219 CNV deletion 24896259
nsv1151681 CNV deletion 26484159
nsv428269 CNV gain+loss 18775914
nsv468943 CNV gain 19166990
nsv468947 CNV gain 19166990
nsv470252 CNV gain 18288195
nsv556845 CNV loss 21841781
nsv556846 CNV loss 21841781
nsv556849 CNV loss 21841781
nsv556852 CNV gain 21841781
nsv556853 CNV gain 21841781
nsv556854 CNV loss 21841781
nsv556855 CNV loss 21841781
nsv556856 CNV loss 21841781
nsv556857 CNV gain 21841781
nsv567 CNV insertion 18451855
nsv568 CNV insertion 18451855
nsv821041 CNV duplication 20802225
nsv826169 CNV gain 20364138
nsv826170 CNV gain 20364138
nsv826171 CNV gain 20364138
nsv826172 CNV gain 20364138
nsv832301 CNV gain+loss 17160897
nsv832302 CNV gain 17160897
nsv952779 CNV deletion 24416366
nsv983261 CNV duplication 23825009

Variation tolerance for IQSEC3 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.51; 77.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IQSEC3 Gene

Human Gene Mutation Database (HGMD)
IQSEC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IQSEC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQSEC3 Gene

Disorders for IQSEC3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IQSEC3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
non-syndromic x-linked intellectual disability
  • mrx
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for IQSEC3

Genetic Association Database (GAD)
IQSEC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IQSEC3
genes like me logo Genes that share disorders with IQSEC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IQSEC3 Gene

Publications for IQSEC3 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. Identification of a neuron-specific human gene, KIAA1110, that is a guanine nucleotide exchange factor for ARF1. (PMID: 17981261) Hattori Y. … Toda M. (Biochem. Biophys. Res. Commun. 2007) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. IQ Motif and SEC7 Domain-containing Protein 3 (IQSEC3) Interacts with Gephyrin to Promote Inhibitory Synapse Formation. (PMID: 27002143) Um J.W. … Ko J. (J. Biol. Chem. 2016) 3 64
  5. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. (PMID: 22566498) Turner S.T. … Boerwinkle E. (Hypertension 2012) 3 64

Products for IQSEC3 Gene

Sources for IQSEC3 Gene

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