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Aliases for IQSEC2 Gene

Aliases for IQSEC2 Gene

  • IQ Motif And Sec7 Domain 2 2 3 5
  • 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
  • KIAA0522 4
  • BRAG1 3
  • MRX1 3

External Ids for IQSEC2 Gene

Previous HGNC Symbols for IQSEC2 Gene

  • MRX1

Previous GeneCards Identifiers for IQSEC2 Gene

  • GC0XM053146
  • GC0XM050327

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 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

Regulatory Elements for IQSEC2 Gene

Enhancers for IQSEC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IQSEC2 on UCSC Golden Path with GeneCards custom track

Promoters for IQSEC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IQSEC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for IQSEC2 Gene

Chromosome:
X
Start:
53,227,454 bp from pter
End:
53,321,350 bp from pter
Size:
93,897 bases
Orientation:
Minus strand

Genomic View for IQSEC2 Gene

Genes around IQSEC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IQSEC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IQSEC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

No data available for DME Specific Peptides for IQSEC2 Gene

Domains & Families for IQSEC2 Gene

Gene Families for IQSEC2 Gene

Protein Domains for IQSEC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q5JU85

UniProtKB/Swiss-Prot:

IQEC2_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 IQSEC2: view

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 IEA --
genes like me logo Genes that share ontologies with IQSEC2: view

Phenotypes for IQSEC2 Gene

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

Human Phenotype Ontology for IQSEC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for IQSEC2 Gene

Pathways & Interactions 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:0030036 actin cytoskeleton organization IBA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with IQSEC2: view

No data available for SIGNOR curated interactions for IQSEC2 Gene

Drugs & Compounds for IQSEC2 Gene

No Compound Related Data Available

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 (x4.4).

Protein differential expression in normal tissues from HIPED for IQSEC2 Gene

This gene is overexpressed in Brain (12.7), Breast (10.5), Peripheral blood mononuclear cells (10.0), Urine (8.7), Cervix (8.2), Platelet (8.1), and Frontal cortex (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IQSEC2: view

Primer Products

No data available for Protein tissue co-expression partners for IQSEC2 Gene

Orthologs for IQSEC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for IQSEC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IQSEC2 35
  • 94.67 (n)
  • 99.17 (a)
IQSEC2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC491895 35
  • 94.88 (n)
  • 98.79 (a)
IQSEC2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Iqsec2 35
  • 92.88 (n)
  • 98.99 (a)
Iqsec2 16
Iqsec2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iqsec2 35
  • 92.67 (n)
  • 98.72 (a)
oppossum
(Monodelphis domestica)
Mammalia IQSEC2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IQSEC2 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IQSEC2 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IQSEC2 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqsec2 35
  • 70.69 (n)
  • 76.12 (a)
zebrafish
(Danio rerio)
Actinopterygii iqsec2 35
  • 67.31 (n)
  • 70.65 (a)
iqsec2 36
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta siz 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(4) 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
VAR_063742 Mental retardation, X-linked 1 (MRX1)
VAR_063743 Mental retardation, X-linked 1 (MRX1)
VAR_063744 Mental retardation, X-linked 1 (MRX1)
VAR_063745 Mental retardation, X-linked 1 (MRX1)
rs880441 -- 53,314,825(+) TGGAG(A/C)GAGAG 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

Variation tolerance for IQSEC2 Gene

Residual Variation Intolerance Score: 3.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IQSEC2 Gene

Human Gene Mutation Database (HGMD)
IQSEC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQSEC2 Gene

Disorders for IQSEC2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IQSEC2 Gene - From: Orphanet, DISEASES, and GeneCards

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.

Relevant External Links for IQSEC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IQSEC2
genes like me logo Genes that share disorders with IQSEC2: view

No data available for Genatlas for IQSEC2 Gene

Publications for IQSEC2 Gene

  1. 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 67
  2. 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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3

Products for IQSEC2 Gene

Sources for IQSEC2 Gene

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