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Aliases for IQSEC2 Gene

Aliases for IQSEC2 Gene

  • IQ Motif And Sec7 Domain 2 2 3
  • KIAA0522 4 6
  • MRX1 3 6
  • Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1b 3
  • Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1c 3
  • Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1 3
  • Mental Retardation, X-Linked 1 (Non-Dysmorphic) 2
  • IQ Motif And SEC7 Domain-Containing Protein 2 3
  • BRAG1 3

External Ids for IQSEC2 Gene

Previous Symbols for IQSEC2 Gene

  • MRX1

Summaries for IQSEC2 Gene

Entrez Gene Summary for IQSEC2 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 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]

GeneCards Summary for IQSEC2 Gene

IQSEC2 (IQ Motif And Sec7 Domain 2) is a Protein Coding gene. Diseases associated with IQSEC2 include non-syndromic x-linked intellectual disability and severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome. Among its related pathways are Endocytosis. GO annotations related to this gene include phospholipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000268465.

Gene Wiki entry for IQSEC2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IQSEC2 Gene

Genomics for IQSEC2 Gene

Genomic Location for IQSEC2 Gene

Start:
53,227,633 bp from pter
End:
53,321,334 bp from pter
Size:
93,702 bases
Orientation:
Minus strand

Genomic View for IQSEC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IQSEC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IQSEC2 Gene

Regulatory Elements for IQSEC2 Gene

Proteins for IQSEC2 Gene

  • Protein details for IQSEC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JU85-IQEC2_HUMAN
    Recommended name:
    IQ motif and SEC7 domain-containing protein 2
    Protein Accession:
    Q5JU85
    Secondary Accessions:
    • B3KT97
    • C7SDG1
    • O60275
    • Q5JUX1

    Protein attributes for IQSEC2 Gene

    Size:
    1478 amino acids
    Molecular mass:
    161736 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for IQSEC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IQSEC2 Gene

Proteomics data for IQSEC2 Gene at MOPED

Post-translational modifications for IQSEC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IQSEC2 Gene

No data available for DME Specific Peptides for IQSEC2 Gene

Domains for IQSEC2 Gene

Protein Domains for IQSEC2 Gene

UniProtKB/Swiss-Prot:

IQEC2_HUMAN
Domain:
  • Contains 1 IQ domain.:
    • Q5JU85
  • Contains 1 PH domain.:
    • Q5JU85
  • Contains 1 SEC7 domain.:
    • Q5JU85
Family:
  • Belongs to the BRAG family.:
    • Q5JU85
genes like me logo Genes that share domains with IQSEC2: view

No data available for Gene Families for IQSEC2 Gene

Function for IQSEC2 Gene

Gene Ontology (GO) - Molecular Function for IQSEC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IBA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with IQSEC2: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for IQSEC2 Gene

Localization for IQSEC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IQSEC2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IQSEC2 Gene COMPARTMENTS Subcellular localization image for IQSEC2 gene
Compartment Confidence
cytosol 3
nucleus 3
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IQSEC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005802 NOT trans-Golgi network IBA --
GO:0030054 cell junction IBA --
genes like me logo Genes that share ontologies with IQSEC2: view

Pathways for IQSEC2 Gene

SuperPathways for IQSEC2 Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with IQSEC2: view

Pathways by source for IQSEC2 Gene

1 KEGG pathway for IQSEC2 Gene

Interacting Proteins for IQSEC2 Gene

Gene Ontology (GO) - Biological Process for IQSEC2 Gene

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 --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with IQSEC2: view

Transcripts for IQSEC2 Gene

Unigene Clusters for IQSEC2 Gene

IQ motif and Sec7 domain 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IQSEC2 Gene

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

Relevant External Links for IQSEC2 Gene

GeneLoc Exon Structure for
IQSEC2
ECgene alternative splicing isoforms for
IQSEC2

Expression for IQSEC2 Gene

mRNA expression in normal human tissues for IQSEC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IQSEC2 Gene

This gene is overexpressed in Brain - Cortex (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IQSEC2 Gene

SOURCE GeneReport for Unigene cluster for IQSEC2 Gene Hs.496138

mRNA Expression by UniProt/SwissProt for IQSEC2 Gene

Q5JU85-IQEC2_HUMAN
Tissue specificity: Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver.
genes like me logo Genes that share expressions with IQSEC2: view

Orthologs for IQSEC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for IQSEC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IQSEC2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IQSEC2 36
  • 94.67 (n)
  • 99.17 (a)
IQSEC2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IQSEC2 37
  • 98 (a)
OneToOne
LOC491895 36
  • 94.88 (n)
  • 98.79 (a)
mouse
(Mus musculus)
Mammalia Iqsec2 36
  • 92.88 (n)
  • 98.99 (a)
Iqsec2 16
Iqsec2 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IQSEC2 37
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IQSEC2 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iqsec2 36
  • 92.67 (n)
  • 98.72 (a)
lizard
(Anolis carolinensis)
Reptilia IQSEC2 37
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqsec2 36
  • 70.69 (n)
  • 76.12 (a)
zebrafish
(Danio rerio)
Actinopterygii iqsec2 36
  • 67.31 (n)
  • 70.65 (a)
iqsec2 37
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta siz 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 59 (a)
OneToMany
Species with no ortholog for IQSEC2:
  • 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)
  • chicken (Gallus gallus)
  • 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 IQSEC2 Gene

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

Paralogs for IQSEC2 Gene

Selected SIMAP similar genes for IQSEC2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with IQSEC2: view

Variants for IQSEC2 Gene

Sequence variations from dbSNP and Humsavar for IQSEC2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs880441 -- 53,314,825(+) TGGAG(A/C)GAGAG intron-variant
rs880442 -- 53,314,906(+) AGCAG(G/T)GGTCC intron-variant
rs1325855 -- 53,284,896(+) TCACA(G/T)GGAAA intron-variant
rs1409117 -- 53,273,313(+) GTCCC(A/G)TCCCA intron-variant
rs1536249 -- 53,255,459(+) TTAGC(C/T)AAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IQSEC2 Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073

Relevant External Links for IQSEC2 Gene

HapMap Linkage Disequilibrium report
IQSEC2
Human Gene Mutation Database (HGMD)
IQSEC2
Locus Specific Mutation Databases (LSDB)
IQSEC2

Disorders for IQSEC2 Gene

(1) OMIM Diseases for IQSEC2 Gene (300522)

UniProtKB/Swiss-Prot

IQEC2_HUMAN
  • Mental retardation, X-linked 1 (MRX1) [MIM:309530]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:20473311}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with IQSEC2: view

Publications for IQSEC2 Gene

  1. 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. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  2. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. (PMID: 20473311) Shoubridge C. … Gecz J. (Nat. Genet. 2010) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for IQSEC2 Gene

Sources for IQSEC2 Gene

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