AUTS2 - activator of transcription and developmental regulator AUTS2 Gene

Also Known as MRD26; FBRSL2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26053

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	References	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	References	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
1200
1259 a.a.

Protein Preferred Names	Protein Names
autism susceptibility gene 2 protein	AUTS2, activator of transcription and developmental regulator

AUTS2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS01276	AUTS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21493	Auts2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28011	Auts2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	AUTS2	NCBI