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

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

AUTS2 Protein Structure

Auts2

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

  • 0
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  • 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

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