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Iqsec2 Gene Detail
Summary
  • Symbol
    Iqsec2
  • Name
    IQ motif and Sec7 domain 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:3528396
    NCBI Gene: 245666
  • Gene Overview
    MyGene.info: IQSEC2
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:152144268-152225236 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 68.46 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    178 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3528396
protein coding gene ChrX:152144183-152225237 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036183
protein coding gene ChrX:149903676-149984693 (+)
A/J MGP_AJ_G0036159
protein coding gene ChrX:149091015-149173543 (+)
AKR/J MGP_AKRJ_G0036085
protein coding gene ChrX:153932952-154019290 (+)
BALB/cJ MGP_BALBcJ_G0036150
protein coding gene ChrX:147283548-147364768 (+)
C3H/HeJ MGP_C3HHeJ_G0035858
protein coding gene ChrX:150114730-150198771 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036675
protein coding gene ChrX:154170658-154253611 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033499
protein coding gene ChrX:140785490-140865464 (+)
CAST/EiJ MGP_CASTEiJ_G0035149
protein coding gene ChrX:129531313-129615415 (+)
CBA/J MGP_CBAJ_G0035835
protein coding gene ChrX:158704618-158793755 (+)
DBA/2J MGP_DBA2J_G0035993
protein coding gene ChrX:148160055-148241260 (+)
FVB/NJ MGP_FVBNJ_G0035927
protein coding gene ChrX:147289722-147371084 (+)
LP/J MGP_LPJ_G0036084
protein coding gene ChrX:151001940-151086107 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035963
protein coding gene ChrX:166868139-166953021 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036710
protein coding gene ChrX:149428603-149514149 (+)
PWK/PhJ MGP_PWKPhJ_G0034843
protein coding gene ChrX:126479708-126562135 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034669
protein coding gene ChrX:129991118-130079379 (+)
WSB/EiJ MGP_WSBEiJ_G0035284
protein coding gene ChrX:147480876-147565410 (+)



Homology
more
  • Human Ortholog
    IQSEC2, IQ motif and Sec7 domain ArfGEF 2
  • Vertebrate Orthologs
    7
  • Human Ortholog
    IQSEC2, IQ motif and Sec7 domain ArfGEF 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BRAG1, IQ-ArfGEF, MRX1, MRX18, MRX78
  • Links
    NCBI Gene ID: 23096
    neXtProt AC: NX_Q5JU85
    UniProt: Q5JU85

  • Chr Location
    Xp11.22; chrX:53225784-53321350 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Iqsec2 mouse models; 1 with human IQSEC2 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 3 alleles in 3 genetic backgrounds
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice heterozygous or hemizygous for a null allele exhibit spontaneous seizures, hyperaticvity, altered anxiety and fear responses, decreased social interactions, delayed learning capacity and decreased memory retention/novel recognition.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041115 Ensembl Gene Model | MGI Sequence Detail 80969 C57BL/6J ±  kb
    transcript ENSMUST00000112605 Ensembl | MGI Sequence Detail 6017 Not Applicable  
    polypeptide ENSMUSP00000108224 Ensembl | MGI Sequence Detail 1488 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR033742 IQ motif and SEC7 domain-containing protein, PH domain
      IPR000048 IQ motif, EF-hand binding site
      IPR011993 PH-like domain superfamily
      IPR001849 Pleckstrin homology domain
      IPR023394 Sec7, C-terminal domain superfamily
      IPR000904 Sec7 domain
      IPR035999 Sec7 domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 30
      cDNA 29
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 8
      Phenotypes 9
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • Latest
      J:284762 Sah M, et al., Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease. Neurobiol Dis. 2020 Jan 21;137:104758

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    Funding Information
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    last database update
    06/30/2020
    MGI 6.15
    The Jackson Laboratory