Aliases for IQSEC1 Gene

Aliases for IQSEC1 Gene

  • IQ Motif And Sec7 Domain ArfGEF 1 2 3 5
  • BRAG2 2 3 4
  • ADP-Ribosylation Factors Guanine Nucleotide-Exchange Protein 100 3 4
  • ADP-Ribosylation Factors Guanine Nucleotide-Exchange Protein 2 3 4
  • IQ Motif And SEC7 Domain-Containing Protein 1 3 4
  • Brefeldin-Resistant Arf-GEF 2 Protein 3 4
  • Brefeldin A-Resistant ARF-GEF2 2 3
  • IQ Motif And Sec7 Domain 1 2 3
  • ARF-GEP100 2 3
  • ARFGEP100 3 4
  • KIAA0763 2 4
  • GEP100 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • IDDSSBA 3
  • IQSEC1 5

External Ids for IQSEC1 Gene

Previous GeneCards Identifiers for IQSEC1 Gene

  • GC03M012916
  • GC03M012938
  • GC03M012872
  • GC03M013084
  • GC03M013439
  • GC03M014640
  • GC03M014771
  • GC03M014891
  • GC03M015399
  • GC03M013682
  • GC03M013802
  • GC03M013923
  • GC03M014036
  • GC03M014162
  • GC03M014285
  • GC03M014410
  • GC03M014528
  • GC03M015774
  • GC03M016104

Summaries for IQSEC1 Gene

GeneCards Summary for IQSEC1 Gene

IQSEC1 (IQ Motif And Sec7 Domain ArfGEF 1) is a Protein Coding gene. Diseases associated with IQSEC1 include Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Arf6 signaling events and Endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC2.

UniProtKB/Swiss-Prot Summary for IQSEC1 Gene

  • Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:24058294, PubMed:11226253). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin (PubMed:16461286). Involved in neuronal development (Probable). In neurons, plays a role in the control of vesicle formation by endocytoc cargo. Upon long term depression, interacts with GRIA2 and mediates the activation of ARF6 to internalize synaptic AMPAR receptors (By similarity).

Gene Wiki entry for IQSEC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IQSEC1 Gene

Genomics for IQSEC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IQSEC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J012962 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 261.2 +316.3 316311 8.7 MYC IKZF1 ZNF600 KLF9 CEBPA POLR2A ZIC2 CHD4 ZBTB10 YY1 IQSEC1 lnc-RPL32-2 TSEN2 ENSG00000250939 RPL32 SNORA7A CAND2 HSALNG0024254
GH03J013068 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 257.9 +211.9 211886 5.4 SP1 POLR2A SIN3A BHLHE40 ZNF316 EBF1 MAX TAF1 SMARCA4 RFX5 IQSEC1 NUP210 piR-30466 RPL39P17 RPL32
GH03J012986 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 261.5 +296.4 296428 1.8 ZIC2 ZNF217 ZBTB7B CTBP1 SIN3A SMARCE1 MAZ ATF4 DPF2 RAD51 IQSEC1 HSALNG0024256 lnc-RPL32-2 RPL32
GH03J013281 Promoter 1.4 Ensembl CraniofacialAtlas 250.7 +1.1 1080 2.8 ZNF600 ZNF10 ZIC2 ZBTB10 YY1 MXD4 NONO KLF11 ZNF341 ZEB1 IQSEC1 lnc-HDAC11-3 RPL32
GH03J013283 Enhancer 0.8 FANTOM5 250.7 -0.5 -519 0.1 KLF11 BHLHE40 ZEB1 CTCF KMT2B SKIL MYNN RAD21 ZEB2 GATAD1 IQSEC1 HSALNG0024262 NUP210
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IQSEC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IQSEC1

Top Transcription factor binding sites by QIAGEN in the IQSEC1 gene promoter:
  • AML1a
  • Egr-2
  • ITF-2
  • Lmo2
  • Meis-1
  • Nkx6-1
  • PPAR-alpha
  • Tal-1beta
  • YY1

Genomic Locations for IQSEC1 Gene

Latest Assembly
chr3:12,897,043-13,283,281
(GRCh38/hg38)
Size:
386,239 bases
Orientation:
Minus strand

Previous Assembly
chr3:12,938,542-13,324,757
(GRCh37/hg19 by Entrez Gene)
Size:
386,216 bases
Orientation:
Minus strand

chr3:12,938,719-13,114,617
(GRCh37/hg19 by Ensembl)
Size:
175,899 bases
Orientation:
Minus strand

Genomic View for IQSEC1 Gene

Genes around IQSEC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IQSEC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IQSEC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IQSEC1 Gene

Proteins for IQSEC1 Gene

  • Protein details for IQSEC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6DN90-IQEC1_HUMAN
    Recommended name:
    IQ motif and SEC7 domain-containing protein 1
    Protein Accession:
    Q6DN90
    Secondary Accessions:
    • A0A087WWK8
    • O94863
    • Q96D85

    Protein attributes for IQSEC1 Gene

    Size:
    963 amino acids
    Molecular mass:
    108314 Da
    Quaternary structure:
    • Interacts with ARF1 and ARF6. Interacts with GRIA2; the interaction is required for ARF6 activation (By similarity).

    Three dimensional structures from OCA and Proteopedia for IQSEC1 Gene

    Alternative splice isoforms for IQSEC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IQSEC1 Gene

Post-translational modifications for IQSEC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Boster Bio Antibodies for IQSEC1
  • Santa Cruz Biotechnology (SCBT) Antibodies for IQSEC1

No data available for DME Specific Peptides for IQSEC1 Gene

Domains & Families for IQSEC1 Gene

Gene Families for IQSEC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IQSEC1 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • SEC7-like domain

Suggested Antigen Peptide Sequences for IQSEC1 Gene

GenScript: Design optimal peptide antigens:
  • Brefeldin-resistant Arf-GEF 2 protein (IQEC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6DN90

UniProtKB/Swiss-Prot:

IQEC1_HUMAN :
  • The PH domain mediates interaction with lipid membranes that contain phosphatidylinositol-4,5-bisphosphate, but does not bind membranes that lack phosphatidylinositol-4,5-bisphosphate.
  • Belongs to the BRAG family.
Domain:
  • The PH domain mediates interaction with lipid membranes that contain phosphatidylinositol-4,5-bisphosphate, but does not bind membranes that lack phosphatidylinositol-4,5-bisphosphate.
Family:
  • Belongs to the BRAG family.
genes like me logo Genes that share domains with IQSEC1: view

Function for IQSEC1 Gene

Molecular function for IQSEC1 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:24058294, PubMed:11226253). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin (PubMed:16461286). Involved in neuronal development (Probable). In neurons, plays a role in the control of vesicle formation by endocytoc cargo. Upon long term depression, interacts with GRIA2 and mediates the activation of ARF6 to internalize synaptic AMPAR receptors (By similarity).

Phenotypes From GWAS Catalog for IQSEC1 Gene

Gene Ontology (GO) - Molecular Function for IQSEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005086 ARF guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IEA,IPI 27265506
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with IQSEC1: view
genes like me logo Genes that share phenotypes with IQSEC1: view

Human Phenotype Ontology for IQSEC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IQSEC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for IQSEC1 Gene

Localization for IQSEC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IQSEC1 Gene

Cytoplasm. Nucleus. Cell junction, synapse, postsynaptic density. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Note=At steady state, may be preferentially cytosolic.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IQSEC1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
cytoskeleton 2
endosome 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoli rim (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IQSEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0008021 synaptic vesicle IEA --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with IQSEC1: view

Pathways & Interactions for IQSEC1 Gene

PathCards logo

SuperPathways for IQSEC1 Gene

genes like me logo Genes that share pathways with IQSEC1: view

Pathways by source for IQSEC1 Gene

2 BioSystems pathways for IQSEC1 Gene
1 KEGG pathway for IQSEC1 Gene

Gene Ontology (GO) - Biological Process for IQSEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030036 actin cytoskeleton organization IBA 21873635
GO:0032012 regulation of ARF protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051549 positive regulation of keratinocyte migration ISS --
GO:0060996 dendritic spine development ISS --
genes like me logo Genes that share ontologies with IQSEC1: view

No data available for SIGNOR curated interactions for IQSEC1 Gene

Drugs & Compounds for IQSEC1 Gene

(3) Drugs for IQSEC1 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 IQSEC1: view

Transcripts for IQSEC1 Gene

mRNA/cDNA for IQSEC1 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IQSEC1

Alternative Splicing Database (ASD) splice patterns (SP) for IQSEC1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17
SP1:
SP2:
SP3: - -
SP4: -
SP5: - - -
SP6: -
SP7:

Relevant External Links for IQSEC1 Gene

GeneLoc Exon Structure for
IQSEC1

Expression for IQSEC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IQSEC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IQSEC1 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for IQSEC1 Gene

This gene is overexpressed in Brain (24.8) and Frontal cortex (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IQSEC1 Gene



Protein tissue co-expression partners for IQSEC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IQSEC1

SOURCE GeneReport for Unigene cluster for IQSEC1 Gene:

Hs.475506

mRNA Expression by UniProt/SwissProt for IQSEC1 Gene:

Q6DN90-IQEC1_HUMAN
Tissue specificity: Expressed in brain, ovary, heart, lung, liver, kidney and leukocytes. Moderate expression was also detected in lung, skeletal muscle, placenta, small intestine, pancreas, spleen and testis.

Evidence on tissue expression from TISSUES for IQSEC1 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Eye(3)
  • Heart(2.2)
  • Muscle(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with IQSEC1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IQSEC1 Gene

Orthologs for IQSEC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IQSEC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IQSEC1 29 30
  • 99.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Iqsec1 29
  • 88.65 (n)
Mouse
(Mus musculus)
Mammalia Iqsec1 29 16 30
  • 87.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IQSEC1 30
  • 87 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia IQSEC1 29 30
  • 86.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IQSEC1 29 30
  • 85.92 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IQSEC1 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC415976 29
  • 73.76 (n)
IQSEC1 30
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IQSEC1 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia iqsec1 29
  • 75.24 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100148736 29
  • 74.03 (n)
IQSEC1 (2 of 2) 30
  • 71 (a)
OneToMany
IQSEC1 (1 of 2) 30
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta siz 30
  • 27 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SYT1 32
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 64 (a)
OneToMany
Species where no ortholog for IQSEC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 IQSEC1 Gene

ENSEMBL:
Gene Tree for IQSEC1 (if available)
TreeFam:
Gene Tree for IQSEC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IQSEC1: view image
Alliance of Genome Resources:
Additional Orthologs for IQSEC1

Paralogs for IQSEC1 Gene

(8) SIMAP similar genes for IQSEC1 Gene using alignment to 4 proteins:

  • IQEC1_HUMAN
  • C9JMG9_HUMAN
  • H7C107_HUMAN
  • L0R4Y9_HUMAN
genes like me logo Genes that share paralogs with IQSEC1: view

Variants for IQSEC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IQSEC1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1030436 Uncertain Significance: Intellectual developmental disorder with short stature and behavioral abnormalities 12,936,228(-) C/T
NM_001134382.3(IQSEC1):c.788G>A (p.Arg263Gln)
MISSENSE
1030437 Uncertain Significance: Intellectual developmental disorder with short stature and behavioral abnormalities 12,936,067(-) C/A
NM_001134382.3(IQSEC1):c.949G>T (p.Asp317Tyr)
MISSENSE
767885 Benign: not provided 12,901,351(-) GC/.
NM_001134382.3(IQSEC1):c.2976_2977= (p.Leu992_Pro993=)
NO_SEQUENCE_ALTERATION,INTRON
983406 Uncertain Significance: Intellectual disability 12,941,767(-) G/A
NM_001134382.3(IQSEC1):c.122C>T (p.Pro41Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR
984563 Likely Benign: Neurodevelopmental abnormality 12,902,814(-) C/T
NM_001134382.3(IQSEC1):c.2764G>A (p.Gly922Arg)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IQSEC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IQSEC1 Gene

Variant ID Type Subtype PubMed ID
dgv1361e212 CNV loss 25503493
dgv8228n54 CNV loss 21841781
esv2724937 CNV deletion 23290073
esv2759129 CNV loss 17122850
esv2763222 CNV gain 21179565
esv33247 CNV loss 17666407
esv33832 CNV gain 17666407
esv3446356 CNV duplication 20981092
esv3595344 CNV loss 21293372
esv3595345 CNV gain 21293372
esv3893663 CNV gain 25118596
esv999756 CNV deletion 20482838
nsv1074570 CNV deletion 25765185
nsv460435 CNV loss 19166990
nsv460442 CNV loss 19166990
nsv470405 CNV loss 18288195
nsv589715 CNV loss 21841781
nsv589716 CNV loss 21841781
nsv589717 CNV loss 21841781
nsv589718 CNV loss 21841781
nsv589719 CNV loss 21841781
nsv589720 CNV loss 21841781
nsv589721 CNV gain 21841781
nsv589725 CNV loss 21841781
nsv834617 CNV loss 17160897
nsv966990 CNV duplication 23825009
nsv999401 CNV gain 25217958

Variation tolerance for IQSEC1 Gene

Residual Variation Intolerance Score: 3.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.59; 78.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IQSEC1 Gene

Human Gene Mutation Database (HGMD)
IQSEC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IQSEC1
Leiden Open Variation Database (LOVD)
IQSEC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQSEC1 Gene

Disorders for IQSEC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IQSEC1 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IQEC1_HUMAN
  • Intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) [MIM:618687]: An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression. {ECO:0000269 PubMed:31607425}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for IQSEC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IQSEC1: view

No data available for Genatlas for IQSEC1 Gene

Publications for IQSEC1 Gene

  1. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. (PMID: 31607425) Ansar M … Antonarakis SE (American journal of human genetics 2019) 2 3 4 72
  2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  3. Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms. (PMID: 20613766) Akiyama K … Inoue I (Journal of human genetics 2010) 3 40
  4. The Arf6 GEF GEP100/BRAG2 regulates cell adhesion by controlling endocytosis of beta1 integrins. (PMID: 16461286) Dunphy JL … Casanova JE (Current biology : CB 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for IQSEC1 Gene

Sources for IQSEC1 Gene