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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 cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2) is a Protein Coding gene. Diseases associated with IQSEC2 include Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005086 | ARF guanyl-nucleotide exchange factor activity | IMP | 26793055 |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0098685 | Schaffer collateral - CA1 synapse | IMP | 27009485 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endocytosis |
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:0050804 | modulation of chemical synaptic transmission | IMP | 27009485 |
GO:0098696 | regulation of neurotransmitter receptor localization to postsynaptic specialization membrane | IMP | 27009485 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: | - | ||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IQSEC2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IQSEC2 31 |
|
OneToOne | |
LOC491895 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | IQSEC2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Iqsec2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Iqsec2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | IQSEC2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IQSEC2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IQSEC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | iqsec2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | iqsec2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | siz 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637967 | Pathogenic/Likely Pathogenic: Intellectual disability; not provided | 53,250,985(-) | G/A | NONSENSE | |
639042 | Pathogenic: Mental retardation, X-linked 1 | 53,254,745(-) | C/A | NONSENSE | |
639819 | Uncertain Significance: Mental retardation, X-linked 1 | 53,234,653(-) | G/A | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
642501 | Uncertain Significance: Mental retardation, X-linked 1 | 53,250,888(-) | C/T | MISSENSE_VARIANT | |
644370 | Uncertain Significance: Mental retardation, X-linked 1 | 53,234,854(-) | C/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome |
|
|
non-syndromic x-linked intellectual disability |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|
iqsec2 |
|
|
chromosome xp11.23-p11.22 duplication syndrome |
|
|