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  2. AUTS2 - activator of transcription and developmental regulator AUTS2 Gene

AUTS2 - activator of transcription and developmental regulator AUTS2 Gene

中文名称:转录激活因子和发育调节因子 AUTS2

种属: Homo sapiens

同用名: MRD26; FBRSL2

基因 ID: 26053 | 基因类型: protein coding

关于 AUTS2

Cytogenetic location: 7q11.22 Genomic coordinates (GRCh38): 7:69,598,475-70,793,506 (from NCBI)

This gene has 34 transcripts (splice variants), 221 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in salivary gland (RPKM 2.5), skin (RPKM 2.4) and 25 other tissues.

功能概要

该基因与神经发育有关,并作为许多神经系统疾病的候选基因,包括自闭症谱系障碍、智力障碍和发育迟缓。该基因的突变也与非神经系统疾病有关,例如急性淋巴细胞白血病、皮肤老化、早发性雄激素性脱发和某些癌症。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2014 年 5 月]

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

AUTS2 基因产物(3)

mRNA Protein Name
NM_001127231.3 NP_001120703.1 autism susceptibility gene 2 protein isoform 2
NM_001127232.3 NP_001120704.1 autism susceptibility gene 2 protein isoform 3
NM_015570.4 NP_056385.1 autism susceptibility gene 2 protein isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables chromatin binding IDA
IDA: 通过直接分析推断
25519132 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25519132 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
25519132 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

AUTS2 蛋白结构

Auts2

Auts2: Autism susceptibility gene 2 protein (645 - 857)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1259 a.a.
蛋白主名 其他名称

autism susceptibility gene 2 protein

AUTS2, activator of transcription and developmental regulator

AUTS2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra AUTS2 Q8WXX7 PCGF5 Homo sapiens Q86SE9
Anti Tag CoIP
25519132
Intra AUTS2 Q8WXX7 PCGF5 Homo sapiens Q86SE9
TAP
25519132
Intra AUTS2 Q8WXX7 EP300 Homo sapiens Q09472
Anti Bait CoIP
25519132
Intra AUTS2 Q8WXX7 EP300 Homo sapiens Q09472
Anti Tag CoIP
34637754
Intra AUTS2 Q8WXX7 EP300 Homo sapiens Q09472
TAP
25519132
Intra AUTS2 Q8WXX7 RNF2 Homo sapiens Q99496
Anti Tag CoIP
34637754
Intra AUTS2 Q8WXX7 RNF2 Homo sapiens Q99496
Anti Tag CoIP
25519132
Intra AUTS2 Q8WXX7 RNF2 Homo sapiens Q99496
TAP
25519132
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 26

MRD26

Autism Spectrum Disorder Due To Auts2 Deficiency

Mental Retardation, Autosomal Dominant 26

Autosomal Dominant Intellectual Developmental Disorder 26

Autosomal Dominant Mental Retardation 26

Autosomal Dominant Non-Syndromic Intellectual Disability 26

Asd Due To Auts2 Deficiency

Auts2 Syndrome

Mental Retardation, Autosomal Dominant, Type 26

Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability

Mca/Mr

Multiple Congenital Anomalies-Intellectual Disability With Or Without Dysmorphism

Intellectual Developmental Disorder, Autosomal Dominant 57

Mental Retardation, Autosomal Dominant 57

MRD57

B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Corpus Callosum, Agenesis Of

Corpus Callosum Agenesis

Agenesis Of The Corpus Callosum

Isolated Corpus Callosum Agenesis

Acc

Non Rare In Europe: Isolated Corpus Callosum Agenesis

Congenital Malformation Of Corpus Callosum

Deformity Of Corpus Callosum

Absence Of Corpus Callosum

Absent Corpus Callosum

Acc - [Agenesis Of Corpus Callosum]

Aplasia Of Corpus Callosum

Congenital Absence Of Corpus Callosum

Hypoplastic Corpus Callosum

Hypoplasia Of Corpus Callosum

Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag

Da Silva Syndrome

Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome

Alopecia
Heroin Dependence
Skin Creases, Congenital Symmetric Circumferential, 1

Michelin Tire Baby Syndrome

CSCSC1

Skin Creases, Multiple Benign Ring-Shaped, Of Limbs

Circumferential Skin Creases, Kunze Type

Congenital Symmetric Circumferential Skin Creases 1

Circumferential Skin Creases Kunze Type

Symmetric Circumferential Skin Creases, Congenital, 1

Csc-Kt

Multiple Benign Ring-Shaped Skin Creases Of Limbs

Michelin-Tire Baby

Skin Creases, Congenital Symmetric Circumferential, 2

CSCSC2

Symmetric Circumferential Skin Creases, Congenital, 2

Congenital Symmetric Circumferential Skin Creases 2

Hypogonadotropic Hypogonadism 14 With Or Without Anosmia

HH14

Hypogonadism, Hypogonadotropic, Type 14 With/Without Anosmia

Bainbridge-Ropers Syndrome

BRPS

Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome

Asxl3-Related Disorder

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Multiple Benign Circumferential Skin Creases On Limbs

Ccsf

Circumferential Skin Creases, Kunze Type

Congenital Circumferential Skin Folds

Kunze-Riehm Syndrome

Kunze Riehm Syndrome

Michelin Tire Baby Syndrome

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

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Dyslexia
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris AUTS2 VGNC VGNC:38314
Bos taurus AUTS2 VGNC VGNC:26352
Mus musculus AUTS2 MGD MGI:1919847
Felis catus AUTS2 VGNC VGNC:60046
Macaca mulatta AUTS2 VGNC VGNC:70071
Rattus norvegicus AUTS2 RGD RGD:2323959