IQSEC2 - IQ motif and Sec7 domain ArfGEF 2 Gene

Homo sapiens

Also known as MRX1; BRAG1; MRX18; MRX78; XLID1; IQ-ArfGEF

Gene ID: 23096 | Gene type: protein coding

About IQSEC2

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:53,225,813-53,321,350 (from NCBI)

This gene has 22 transcripts (splice variants), 266 orthologues, 15 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 5.1), adrenal (RPKM 1.4) and 23 other tissues.

Summary

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 Products(4)

mRNA	Protein	Name
NM_001111125.3	NP_001104595.1	IQ motif and SEC7 domain-containing protein 2 isoform 1
NM_001243197.2	NP_001230126.1	IQ motif and SEC7 domain-containing protein 2 isoform 3
NM_001410736.1	NP_001397665.1	IQ motif and SEC7 domain-containing protein 2 isoform 4
NM_015075.2	NP_055890.1	IQ motif and SEC7 domain-containing protein 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	26793055	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	30842726	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in modulation of chemical synaptic transmission	IDA IDA: Inferred from direct assay	27009485	GOA
involved in modulation of chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	27009485	GOA
involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IDA IDA: Inferred from direct assay	27009485	GOA
involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IMP IMP: Inferred from mutant phenotype	27009485	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in Schaffer collateral - CA1 synapse	IDA IDA: Inferred from direct assay	27009485	GOA
is active in Schaffer collateral - CA1 synapse	IMP IMP: Inferred from mutant phenotype	27009485	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IQSEC2 Protein Structure

Sec7

0
300
600
900
1200
1488 a.a.

Protein Preferred Names

Protein Names

IQ motif and SEC7 domain-containing protein 2

IQ motif and Sec7 domain 2

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked 1

XLID1	Mrx1
Mrx18	Mrx78
Mrx	Mental Retardation, X-Linked 18
Mental Retardation, X-Linked 1

Iqsec2

Intellectual Disability, X-Linked 1	Iqsec2-Related Epilepsy
Iqsec2-Related Intellectual Disability	X-Linked Intellectual Disability 1
X-Linked Intellectual Disability 1/78	X-Linked Intellectual Disability 78

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome

Iqsec2-Related Syndromic Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Chromosome Xp11.23-P11.22 Duplication Syndrome

Microduplication Xp11.22-P11.23 Syndrome	Trisomy Xp11.22-P11.23
Dup	Microduplication Xp11.22p11.23 Syndrome
Trisomy Xp11.22p11.23	Chromosome Duplication Syndrome Xp11.23-P11.22

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Atrial Septal Defect 8

ASD8	Atrial Heart Septal Defect 8
Septal Defect, Atrial, Type 8

Thymic Dysplasia

Chromosome 16p11.2 Deletion Syndrome

Distal 16p11.2 Microdeletion Syndrome	16p11.2 Deletion Syndrome
Del(16)(P11.2)	Microdeletion 16p11.2
Monosomy 16p11.2	Autism, Susceptibility To, 14a
Auts14a	Distal Del(16)(P11.2)
Distal Monosomy 16p11.2

Pontocerebellar Hypoplasia, Type 16

PCH16	Pontocerebellar Hypoplasia Type 16
Pontocerebellar Hypoplasia 16	Doid:0112333

Pitt-Hopkins Syndrome

PTHS	Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
Mental Retardation, Syndromal, With Intermittent Hyperventilation	Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
Pitt Hopkins Syndrome	Phs
Encephalopathy Severe Epileptic With Autonomic Dysfunction

Syndromic X-Linked Intellectual Disability Claes-Jensen Type

Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type	Mrxscj
Mrxsj	Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation
Syndromic X-Linked Mental Retardation Jarid1c-Related

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1	Mrx18
Mrx78	X-Linked Mental Retardation 1/78
X-Linked Mental Retardation 18

Developmental And Epileptic Encephalopathy 27

DEE27	Epileptic Encephalopathy, Early Infantile, 27
Eiee27	Developmental And Epileptic Encephalopathy, 27
Early Infantile Epileptic Encephalopathy 27	Encephalopathy, Developmental And Epileptic, Type 27

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

BBSOAS

Optic Atrophy-Intellectual Disability Syndrome

Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations

MCCCHCM

Bruxism

Sleep Bruxism	Sleep-Related Bruxism
Bruxism - Teeth Grinding	Grinding Teeth
Sleep Related Bruxism	Teeth Grinding
Sleep Related Teeth Grinding

Nescav Syndrome

NESCAVS	Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
Mrd9	Intellectual Disability, Autosomal Dominant 9
Mental Retardation, Autosomal Dominant 9, Formerly	Mrd9, Formerly
Autosomal Dominant Intellectual Disability 9	Autosomal Dominant Non-Syndromic Intellectual Disability 9
Mental Retardation, Autosomal Dominant 9

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

Laryngomalacia

Congenital Laryngomalacia	Congenital Laryngeal Stridor
Laryngomalacia Congenital	Floppy Epiglottis

White-Sutton Syndrome

WHSUS	Mrd37
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome	Mental Retardation, Autosomal Dominant 37
Autosomal Dominant Mental Retardation 37	Pogz-Related Intellectual Disability Syndrome

Otopalatodigital Syndrome, Type I

Otopalatodigital Syndrome Type 1	Taybi Syndrome
OPD1	Opd Syndrome 1
Oto-Palato-Digital Syndrome Type 1	Opd I Syndrome
Oto-Palato-Digital Syndrome, Type I	Otopalatodigital Syndrome Type I
Opd Syndrome	Cranioorodigital Syndrome
Faciopalatoosseous Syndrome	Fpo
Opd Syndrome, Type 1	Otopalatodigital Syndrome 1

Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2	DEE2
Eiee2	Issx2
Developmental And Epileptic Encephalopathy, 2	Infantile Spasm Syndrome, X-Linked 2
Early Infantile Epileptic Encephalopathy 2	X-Linked Infantile Spasm Syndrome 2
Atypical Rett Syndrome Cdkl5-Related	Atypical Rett Syndrome Hanefeld Variant
Infantile Spasm Syndrome X-Linked 2	Rett Syndrome Early-Onset Seizure Variant
Rett Syndrome Variant With Infantile Spasms	Encephalopathy, Epileptic, Early Infantile, Type 2

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Kbg Syndrome

KBGS	Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies	Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome	Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06889	IQSEC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	IQSEC2	VGNC	VGNC:30262
Rattus norvegicus	IQSEC2	RGD	RGD:1596452
Canis familiaris	IQSEC2	VGNC	VGNC:42084
Mus musculus	IQSEC2	MGD	MGI:3528396
Felis catus	IQSEC2	VGNC	VGNC:62968
Macaca mulatta	IQSEC2	VGNC	VGNC:73676