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    AUTS2 activator of transcription and developmental regulator AUTS2 [ Homo sapiens (human) ]

    Gene ID: 26053, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AUTS2provided by HGNC
    Official Full Name
    activator of transcription and developmental regulator AUTS2provided by HGNC
    Primary source
    HGNC:HGNC:14262
    See related
    Ensembl:ENSG00000158321 MIM:607270; AllianceGenome:HGNC:14262
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRD26; FBRSL2
    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]
    Expression
    Ubiquitous expression in salivary gland (RPKM 2.5), skin (RPKM 2.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AUTS2 in Genome Data Viewer
    Location:
    7q11.22
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (69598475..70793506)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (70821258..72017159)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (69063461..70258492)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18224 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:69073614-69074587 Neighboring gene NANOG hESC enhancer GRCh37_chr7:69075092-69075654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26096 Neighboring gene Sharpr-MPRA regulatory region 1350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26100 Neighboring gene Sharpr-MPRA regulatory region 8911 Neighboring gene NANOG hESC enhancer GRCh37_chr7:69209815-69210316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26101 Neighboring gene cancer/testis associated transcript 66 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26103 Neighboring gene VISTA enhancer hs2315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26104 Neighboring gene VISTA enhancer hs1660 Neighboring gene NANOG hESC enhancer GRCh37_chr7:69537097-69537598 Neighboring gene VISTA enhancer hs1425 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:69604114-69604315 Neighboring gene NANOG hESC enhancer GRCh37_chr7:69615911-69616412 Neighboring gene VISTA enhancer hs2316 Neighboring gene heart enhancer 21 Neighboring gene VISTA enhancer hs658 Neighboring gene VISTA enhancer hs2317 Neighboring gene VISTA enhancer hs2318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:69813727-69814226 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:69857943-69858138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:69881219-69881824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:69881825-69882428 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:69917332-69917455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:69961601-69962108 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:69969942-69971141 Neighboring gene uncharacterized LOC124901669 Neighboring gene uncharacterized LOC124901668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70061071-70061572 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:70079304-70079836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70095779-70096557 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70096558-70097335 Neighboring gene VISTA enhancer hs925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70111719-70112218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26110 Neighboring gene MPRA-validated peak6564 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70145703-70146628 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70146629-70147554 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18231 Neighboring gene uncharacterized LOC107986709 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:70164947-70165914 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:70168599-70169443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70176010-70176532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26111 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:70189901-70190592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18232 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70193362-70193882 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70193883-70194402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18233 Neighboring gene uncharacterized LOC105375347 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70227272-70227983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18235 Neighboring gene neuroepithelial cell transforming 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70303269-70304021 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:70300982-70302181 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99892 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:70323140-70324089 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70334305-70334806 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70349305-70349988 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70349989-70350672 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70359189-70359954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70357656-70358422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26113 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70359955-70360720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26115 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70372487-70372988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70372989-70373488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70399984-70400486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70704063-70704563 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70720332-70720840 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70720841-70721350 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 17 Neighboring gene microRNA 3914-1 Neighboring gene microRNA 3914-2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility. Dang W, et al. J Mol Neurosci, 2014 Dec. PMID 25398668
    2. Cocaine-Induced Chromatin Modifications Associate With Increased Expression and Three-Dimensional Looping of Auts2. Engmann O, et al. Biol Psychiatry, 2017 Dec 1. PMID 28577753, Free PMC Article
    3. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Nagamani SC, et al. Eur J Hum Genet, 2013 Mar. PMID 22872102, Free PMC Article
    4. AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype. Sengun E, et al. Am J Med Genet A, 2016 Dec. PMID 27531620
    5. Deregulation of polycomb repressor complex 1 modifier AUTS2 in T-cell leukemia. Nagel S, et al. Oncotarget, 2016 Jul 19. PMID 27322685, Free PMC Article

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/beta-catenin pathway.
      Title: AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/β-catenin pathway.
    2. Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies.
      Title: Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies.
    3. Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene.
      Title: Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene.
    4. Cerebral organoids containing an AUTS2 missense variant model microcephaly.
      Title: Cerebral organoids containing an AUTS2 missense variant model microcephaly.
    5. Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.
      Title: Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.
    6. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
      Title: Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
    7. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
      Title: NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
    8. Germ cell mosaicism for AUTS2 exon 6 deletion.
      Title: Germ cell mosaicism for AUTS2 exon 6 deletion.
    9. Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
      Title: Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
    10. Effect of AUTS2 gene rs6943555 variant in male patients with schizophrenia in a Turkish population.
      Title: Effect of AUTS2 gene rs6943555 variant in male patients with schizophrenia in a Turkish population.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autism spectrum disorder due to AUTS2 deficiency
    MedGen: C4014435 OMIM: 615834 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-06-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0442, MGC13140

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in axon extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dendrite extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of Rac protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    autism susceptibility gene 2 protein
    Names
    AUTS2, activator of transcription and developmental regulator
    autism susceptibility candidate 2
    autism-related protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034133.1 RefSeqGene

      Range
      4557..1199588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127231.3 → NP_001120703.1  autism susceptibility gene 2 protein isoform 2

      See identical proteins and their annotated locations for NP_001120703.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC006012, AC073873, AF326917, AW972135, BC064693, CA450113
      Consensus CDS
      CCDS47601.1
      UniProtKB/Swiss-Prot
      Q8WXX7
      Related
      ENSP00000385263.2, ENST00000406775.6
      Conserved Domains (2) summary
      pfam14650
      Location:322 → 383
      FAM75; FAM75 family
      pfam15336
      Location:621 → 833
      Auts2; Autism susceptibility gene 2 protein

    2. NM_001127232.3 → NP_001120704.1  autism susceptibility gene 2 protein isoform 3

      See identical proteins and their annotated locations for NP_001120704.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC006012, AC073148, BC011643, BC064693, BG208279
      Consensus CDS
      CCDS47602.1
      UniProtKB/Swiss-Prot
      Q8WXX7
      Related
      ENSP00000385572.2, ENST00000403018.3

    3. NM_015570.4 → NP_056385.1  autism susceptibility gene 2 protein isoform 1

      See identical proteins and their annotated locations for NP_056385.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC006012, AC073873, AF326917, AW972135, BC064693, CA450113
      Consensus CDS
      CCDS5539.1
      UniProtKB/Swiss-Prot
      A4D1Y9, L7QET3, L7QF75, Q5D049, Q6PJU5, Q8WXX7, Q9Y4F2
      UniProtKB/TrEMBL
      Q75MD7
      Related
      ENSP00000344087.4, ENST00000342771.10
      Conserved Domains (2) summary
      pfam14650
      Location:322 → 383
      FAM75; FAM75 family
      pfam15336
      Location:645 → 857
      Auts2; Autism susceptibility gene 2 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      69598475..70793506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516010.3 → XP_011514312.1  autism susceptibility gene 2 protein isoform X1

      Conserved Domains (2) summary
      pfam14650
      Location:322 → 383
      FAM75; FAM75 family
      pfam15336
      Location:652 → 864
      Auts2; Autism susceptibility gene 2 protein

    2. XM_011516013.3 → XP_011514315.1  autism susceptibility gene 2 protein isoform X6

      Conserved Domains (2) summary
      pfam14650
      Location:322 → 383
      FAM75; FAM75 family
      pfam15336
      Location:628 → 840
      Auts2; Autism susceptibility gene 2 protein

    3. XM_011516014.3 → XP_011514316.1  autism susceptibility gene 2 protein isoform X8

      Conserved Domains (2) summary
      pfam14650
      Location:322 → 383
      FAM75; FAM75 family
      pfam15336
      Location:618 → 830
      Auts2; Autism susceptibility gene 2 protein

    4. XM_047420157.1 → XP_047276113.1  autism susceptibility gene 2 protein isoform X9

    5. XM_011516012.3 → XP_011514314.1  autism susceptibility gene 2 protein isoform X4

      UniProtKB/TrEMBL
      Q75MD7
      Conserved Domains (2) summary
      pfam14650
      Location:322 → 383
      FAM75; FAM75 family
      pfam15336
      Location:630 → 842
      Auts2; Autism susceptibility gene 2 protein

    6. XM_047420159.1 → XP_047276115.1  autism susceptibility gene 2 protein isoform X11

    7. XM_047420161.1 → XP_047276117.1  autism susceptibility gene 2 protein isoform X13

    8. XM_011516011.3 → XP_011514313.1  autism susceptibility gene 2 protein isoform X2

      Conserved Domains (2) summary
      pfam14650
      Location:322 → 383
      FAM75; FAM75 family
      pfam15336
      Location:651 → 863
      Auts2; Autism susceptibility gene 2 protein

    9. XM_047420154.1 → XP_047276110.1  autism susceptibility gene 2 protein isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y8C6, Q75MD7
      Related
      ENSP00000496726.1, ENST00000644939.1

    10. XM_047420156.1 → XP_047276112.1  autism susceptibility gene 2 protein isoform X7

    11. XM_047420158.1 → XP_047276114.1  autism susceptibility gene 2 protein isoform X10

    12. XM_047420155.1 → XP_047276111.1  autism susceptibility gene 2 protein isoform X5

      UniProtKB/TrEMBL
      Q75MD7

    13. XM_047420160.1 → XP_047276116.1  autism susceptibility gene 2 protein isoform X12

    14. XM_047420162.1 → XP_047276118.1  autism susceptibility gene 2 protein isoform X14

    15. XM_047420166.1 → XP_047276122.1  autism susceptibility gene 2 protein isoform X19

      UniProtKB/TrEMBL
      Q75MD7

    16. XM_047420167.1 → XP_047276123.1  autism susceptibility gene 2 protein isoform X19

      UniProtKB/TrEMBL
      Q75MD7

    17. XM_047420168.1 → XP_047276124.1  autism susceptibility gene 2 protein isoform X19

      UniProtKB/TrEMBL
      Q75MD7

    18. XM_011516018.3 → XP_011514320.1  autism susceptibility gene 2 protein isoform X21

      UniProtKB/TrEMBL
      Q75MD7
      Conserved Domains (2) summary
      pfam14650
      Location:155 → 216
      FAM75; FAM75 family
      pfam15336
      Location:485 → 697
      Auts2; Autism susceptibility gene 2 protein

    19. XM_011516017.3 → XP_011514319.1  autism susceptibility gene 2 protein isoform X15

      UniProtKB/TrEMBL
      Q75MD7
      Conserved Domains (2) summary
      pfam14650
      Location:164 → 225
      FAM75; FAM75 family
      pfam15336
      Location:494 → 706
      Auts2; Autism susceptibility gene 2 protein

    20. XM_047420164.1 → XP_047276120.1  autism susceptibility gene 2 protein isoform X17

      UniProtKB/TrEMBL
      Q75MD7
      Related
      ENSP00000478134.1, ENST00000611706.4

    21. XM_047420163.1 → XP_047276119.1  autism susceptibility gene 2 protein isoform X16

      UniProtKB/TrEMBL
      Q75MD7

    22. XM_047420169.1 → XP_047276125.1  autism susceptibility gene 2 protein isoform X20

      UniProtKB/TrEMBL
      A0A087WVB5

    23. XM_047420165.1 → XP_047276121.1  autism susceptibility gene 2 protein isoform X18

      UniProtKB/TrEMBL
      Q75MD7

    24. XM_047420171.1 → XP_047276127.1  autism susceptibility gene 2 protein isoform X23

      UniProtKB/TrEMBL
      A0A024RDL5, A0A2R8Y568
      Related
      ENSP00000496672.1, ENST00000644506.1

    25. XM_047420170.1 → XP_047276126.1  autism susceptibility gene 2 protein isoform X23

      UniProtKB/TrEMBL
      A0A024RDL5, A0A2R8Y568
      Related
      ENSP00000494561.1, ENST00000644359.1

    26. XM_005250257.3 → XP_005250314.1  autism susceptibility gene 2 protein isoform X22

      UniProtKB/TrEMBL
      A0A2R8Y568
      Related
      ENSP00000494226.1, ENST00000647140.1
      Conserved Domains (1) summary
      pfam15336
      Location:194 → 406
      Auts2; Autism susceptibility gene 2 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      70821258..72017159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357813.1 → XP_054213788.1  autism susceptibility gene 2 protein isoform X1

    2. XM_054357818.1 → XP_054213793.1  autism susceptibility gene 2 protein isoform X6

    3. XM_054357820.1 → XP_054213795.1  autism susceptibility gene 2 protein isoform X8

    4. XM_054357821.1 → XP_054213796.1  autism susceptibility gene 2 protein isoform X9

    5. XM_054357816.1 → XP_054213791.1  autism susceptibility gene 2 protein isoform X4

      UniProtKB/TrEMBL
      Q75MD7

    6. XM_054357823.1 → XP_054213798.1  autism susceptibility gene 2 protein isoform X11

    7. XM_054357825.1 → XP_054213800.1  autism susceptibility gene 2 protein isoform X13

    8. XM_054357814.1 → XP_054213789.1  autism susceptibility gene 2 protein isoform X2

    9. XM_054357815.1 → XP_054213790.1  autism susceptibility gene 2 protein isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y8C6, Q75MD7

    10. XM_054357819.1 → XP_054213794.1  autism susceptibility gene 2 protein isoform X7

    11. XM_054357822.1 → XP_054213797.1  autism susceptibility gene 2 protein isoform X10

    12. XM_054357817.1 → XP_054213792.1  autism susceptibility gene 2 protein isoform X5

      UniProtKB/TrEMBL
      Q75MD7

    13. XM_054357824.1 → XP_054213799.1  autism susceptibility gene 2 protein isoform X12

    14. XM_054357826.1 → XP_054213801.1  autism susceptibility gene 2 protein isoform X14

    15. XM_054357832.1 → XP_054213807.1  autism susceptibility gene 2 protein isoform X19

      UniProtKB/TrEMBL
      Q75MD7

    16. XM_054357833.1 → XP_054213808.1  autism susceptibility gene 2 protein isoform X19

      UniProtKB/TrEMBL
      Q75MD7

    17. XM_054357835.1 → XP_054213810.1  autism susceptibility gene 2 protein isoform X21

      UniProtKB/TrEMBL
      Q75MD7

    18. XM_054357831.1 → XP_054213806.1  autism susceptibility gene 2 protein isoform X19

      UniProtKB/TrEMBL
      Q75MD7

    19. XM_054357827.1 → XP_054213802.1  autism susceptibility gene 2 protein isoform X15

      UniProtKB/TrEMBL
      Q75MD7

    20. XM_054357829.1 → XP_054213804.1  autism susceptibility gene 2 protein isoform X17

      UniProtKB/TrEMBL
      Q75MD7

    21. XM_054357828.1 → XP_054213803.1  autism susceptibility gene 2 protein isoform X16

      UniProtKB/TrEMBL
      Q75MD7

    22. XM_054357834.1 → XP_054213809.1  autism susceptibility gene 2 protein isoform X20

      UniProtKB/TrEMBL
      A0A087WVB5

    23. XM_054357830.1 → XP_054213805.1  autism susceptibility gene 2 protein isoform X18

      UniProtKB/TrEMBL
      Q75MD7

    24. XM_054357836.1 → XP_054213811.1  autism susceptibility gene 2 protein isoform X22

      UniProtKB/TrEMBL
      A0A2R8Y568

    25. XM_054357837.1 → XP_054213812.1  autism susceptibility gene 2 protein isoform X22

      UniProtKB/TrEMBL
      A0A2R8Y568

    26. XM_054357838.1 → XP_054213813.1  autism susceptibility gene 2 protein isoform X22

      UniProtKB/TrEMBL
      A0A2R8Y568
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXX7.1 GenPept UniProtKB/Swiss-Prot:Q8WXX7

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