AUTS2 - activator of transcription and developmental regulator AUTS2 Gene

Homo sapiens

Also known as MRD26; FBRSL2

Gene ID: 26053 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	25519132	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25519132	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	25519132	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

AUTS2 Protein Structure

Auts2

0
200
400
600
800
1000
1259 a.a.

Protein Preferred Names

Protein Names

autism susceptibility gene 2 protein

AUTS2, activator of transcription and developmental regulator

Related Diseases

Diseases

Alias

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

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-RS01276	AUTS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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