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    ABTB3 ankyrin repeat and BTB domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 121551, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ABTB3provided by HGNC
    Official Full Name
    ankyrin repeat and BTB domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:23844
    See related
    Ensembl:ENSG00000151136 MIM:621028; AllianceGenome:HGNC:23844
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABTB2B; BTBD11
    Summary
    Predicted to enable PDZ domain binding activity and protein heterodimerization activity. Predicted to act upstream of or within exploration behavior; glutamatergic synaptic transmission; and protein stabilization. Predicted to be located in glutamatergic synapse and membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in esophagus (RPKM 5.5), thyroid (RPKM 5.2) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABTB3 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (107318434..107659642)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (107282040..107623123)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (107712211..108053419)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903009 Neighboring gene Sharpr-MPRA regulatory region 1195 Neighboring gene Sharpr-MPRA regulatory region 11431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:107712713-107713432 Neighboring gene SET pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 10758 Neighboring gene small nucleolar RNA SNORD74 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:107779003-107779548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:107829935-107830435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6953 Neighboring gene NANOG hESC enhancer GRCh37_chr12:107889636-107890174 Neighboring gene RNA, 5S ribosomal pseudogene 371 Neighboring gene Sharpr-MPRA regulatory region 1299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:107931717-107932281 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:108003556-108004056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108011603-108012104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108012105-108012604 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:108025204-108026403 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:108029159-108030358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108054007-108054507 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:108076698-108076955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6955 Neighboring gene uncharacterized LOC124903010 Neighboring gene ribosomal protein L17 pseudogene 38 Neighboring gene PWP1 homolog, endonuclein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Btbd11 supports cell-type-specific synaptic function. Bygrave AM, et al. Cell Rep, 2023 Jun 27. PMID 37261953, Free PMC Article
    2. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837
    3. Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. Cobb J, et al. Pharmacogenomics J, 2014 Aug. PMID 24709693, Free PMC Article
    4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Need AC, et al. Hum Mol Genet, 2009 Dec 1. PMID 19734545, Free PMC Article
    5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33957, FLJ42845

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in exploration behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein stabilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and BTB/POZ domain-containing protein 3
    Names
    ANK-repeat BTB domain containing protein
    BTB (POZ) domain containing 11
    BTB domain containing 11
    BTB/POZ domain-containing protein 11
    ankyrin repeat and BTB/POZ domain-containing protein BTBD11

    NCBI Reference Sequences (RefSeq)

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    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_052621.1 RefSeqGene

      Range
      6267..347475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017523.2 → NP_001017523.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001017523.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (b) lacks several coding exons and has an alternate 5'-terminal exon, compared to variant a. The encoded isoform (b) has a shorter and distinct N-terminus, as compared to isoform a.
      Source sequence(s)
      AK122818, AK127295
      Consensus CDS
      CCDS41827.1
      UniProtKB/TrEMBL
      B3KXB0
      Related
      ENSP00000349690.4, ENST00000357167.8
      Conserved Domains (3) summary
      cd00204
      Location:135 → 288
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:143 → 184
      ANK; ANK repeat [structural motif]
      pfam00651
      Location:452 → 559
      BTB; BTB/POZ domain

    2. NM_001018072.2 → NP_001018082.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_001018082.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AI638039, AK122818, AK124835, AK127012, BC027931
      Consensus CDS
      CCDS31893.1
      UniProtKB/Swiss-Prot
      A4FU41, A6QL63, B3KXG3, C9J019, C9JK80, E9PHS4, Q3ZTQ4, Q52M89, Q6ZV99, Q8N245
      Related
      ENSP00000280758.5, ENST00000280758.10
      Conserved Domains (7) summary
      smart00225
      Location:924 → 1022
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:598 → 751
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00651
      Location:915 → 1018
      BTB; BTB/POZ domain
      pfam12796
      Location:608 → 716
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:580 → 624
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:606 → 647
      ANK; ANK repeat [structural motif]
      cl23907
      Location:200 → 244
      H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...

    3. NM_001347943.2 → NP_001334872.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (c) lacks an alternate in-frame segment compared to variant a. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC007540, AC007649
      Consensus CDS
      CCDS86332.1
      UniProtKB/Swiss-Prot
      A6QL63
      Related
      ENSP00000413889.2, ENST00000420571.6

    4. NM_001347944.1 → NP_001334873.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (d) differs in the 5' UTR and coding sequence compared to variant a. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC007540, AC007649

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      107318434..107659642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428301.1 → XP_047284257.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X1

    2. XM_011537910.4 → XP_011536212.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X3

      Conserved Domains (7) summary
      smart00225
      Location:558 → 656
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:232 → 385
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00651
      Location:549 → 652
      BTB; BTB/POZ domain
      pfam12796
      Location:242 → 350
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:324 → 385
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:240 → 281
      ANK; ANK repeat [structural motif]
      cl06652
      Location:656 → 704
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

    3. XM_011537909.3 → XP_011536211.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X2

      Conserved Domains (6) summary
      smart00225
      Location:577 → 675
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:251 → 404
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00651
      Location:568 → 671
      BTB; BTB/POZ domain
      pfam12796
      Location:261 → 369
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:343 → 404
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:259 → 300
      ANK; ANK repeat [structural motif]

    4. XM_005268645.4 → XP_005268702.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X4

      Conserved Domains (7) summary
      smart00225
      Location:547 → 645
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd00204
      Location:221 → 374
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00651
      Location:538 → 641
      BTB; BTB/POZ domain
      pfam12796
      Location:231 → 339
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:313 → 374
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:229 → 270
      ANK; ANK repeat [structural motif]
      cl06652
      Location:645 → 693
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      107282040..107623123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371099.1 → XP_054227074.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X1

    2. XM_054371101.1 → XP_054227076.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X3

    3. XM_054371100.1 → XP_054227075.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X2

    4. XM_054371102.1 → XP_054227077.1  ankyrin repeat and BTB/POZ domain-containing protein 3 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152322.2: Suppressed sequence

      Description
      NM_152322.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6QL63.3 GenPept UniProtKB/Swiss-Prot:A6QL63

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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