2. Gene
  3. IQSEC2 - IQ motif and Sec7 domain ArfGEF 2 Gene

IQSEC2 - IQ motif and Sec7 domain ArfGEF 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：IQ 基序和 Sec7 域 ArfGEF 2

种属: Homo sapiens

同用名: MRX1; BRAG1; MRX18; MRX78; XLID1; IQ-ArfGEF

基因 ID: 23096 | 基因类型: protein coding

关于 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.

功能概要

该基因为小 GTP 结合蛋白的 ARF 家族编码鸟嘌呤核苷酸交换因子。编码的蛋白质是兴奋性突触突触后密度的组成部分，并且可能通过激活选定的 ARF 底物 (包括 ARF1 和 ARF6) 在细胞骨架和突触组织中发挥关键作用。该基因的突变与非综合征性 X 连锁认知障碍有关。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity IMP
IMP: 通过突变表型推断
26793055 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30842726 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in modulation of chemical synaptic transmission IDA
IDA: 通过直接分析推断
27009485 GOA
involved in modulation of chemical synaptic transmission IMP
IMP: 通过突变表型推断
27009485 GOA
involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IDA
IDA: 通过直接分析推断
27009485 GOA
involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IMP
IMP: 通过突变表型推断
27009485 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in Schaffer collateral - CA1 synapse IDA
IDA: 通过直接分析推断
27009485 GOA
is active in Schaffer collateral - CA1 synapse IMP
IMP: 通过突变表型推断
27009485 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

IQSEC2 蛋白结构

Sec7

Sec7: Sec7 domain (755 - 940)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1488 a.a.
蛋白主名 其他名称

IQ motif and SEC7 domain-containing protein 2

IQ motif and Sec7 domain 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06889 IQSEC2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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