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FLASH GENE

Symbol

IQSEC2

contributors: mct/ - updated : 04-10-2017

HGNC name	IQ motif and Sec7 domain 2
HGNC id	29059

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRX1 mental retardation, 1
Location	Xp11.22      Physical location : 53.262.058 - 53.350.522
Synonym name	KIAA0522 protein
	brefeldin A resistant Arf-guanine nucleotide exchange factor 1b
	brefeldin A resistant Arf-guanine nucleotide exchange factor 1c
	brefeldin A resistant Arf-guanine nucleotide exchange factor 1
Synonym symbol(s)	KIAA0522, RP11-258C19.1, BRAG1, IQ-ARFGEF

DNA

TYPE	functioning gene
STRUCTURE	95.57 kb     15 Exon(s)

text structure

escaping X inactivation

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

between the JARID1C and SMC1L1 genes

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001111125 15 - 6021 NP_001104595 162.6 1488 - 2006 17045249 NM_015075 14 - 5248 NP_055890 105 949 - 2006 17045249 NM_001243197 3 - 971 NP_001230126 - 73 - 2006 17045249

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly   salivary gland       highly Endocrine pancreas         Nervous brain       highly Reproductive female system ovary         male system prostate       Urinary kidney       highly Visual eye retina       Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an IQ-like motif lacking the G and second basic residue of the complete motif
	one SEC7 domain, 200-AA domain responsible for catalyzing nucleotide exchange onto ARF substrates (Shoubridges 2010)
	one PH domain

HOMOLOGY

interspecies

homolog to murine Iqsec2 (99.2pc)

Homologene

FAMILY

BRAG family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	may be involved in th regulation of ARF protein signal transduction
	IQSEC1, IQSEC2 control activity-dependent removal of AMPA receptors from glutamatergic synapses, a process that is required for long-term synaptic depression
	may modulate the functions of ARF at synaptic sites
	guanine nucleotide exchange factor for the ARF family of GTP-binding proteins
	IQSEC1, IQSEC2, IQSEC3 have key roles in the function and organization of distinct excitatory and inhibitory synapses in the retina
	dual role of IQSEC2 in synaptic function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

component of the postsynaptic density of excitatory synapses

INTERACTION

DNA

RNA

small molecule

protein	may play roles downstream of NMDA receptors through the interaction with multivalent PSD proteins such as BAIAP2 and DLG4
	both ARF6 activation through GRIN2B-IQSEC2 during early development and the transition from IQSEC2- to IQSEC1-dependent ARF6 signaling induced by the GRIN2B subunit switch are critical for the development of mature glutamatergic synapses
	IQSEC2 functions as a regulator of AMPA receptor trafficking at excitatory synapses

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRX1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in nonsyndromic intellectual disability

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS