IQSEC2 - IQ motif and Sec7 domain ArfGEF 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23096

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	References	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	References	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	References	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

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 Set	/	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
Others	IQSEC2	NCBI