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    DBNDD2 dysbindin domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 55861, updated on 27-Dec-2024

    Summary

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    Official Symbol
    DBNDD2provided by HGNC
    Official Full Name
    dysbindin domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:15881
    See related
    Ensembl:ENSG00000244274 MIM:611453; AllianceGenome:HGNC:15881
    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
    CK1BP; HSMNP1; C20orf35
    Summary
    Predicted to enable ATPase binding activity. Involved in negative regulation of protein kinase activity. Predicted to be located in cytoplasm. Predicted to be active in endoplasmic reticulum and lysosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in brain (RPKM 80.2), heart (RPKM 39.7) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DBNDD2 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45405993..45410610)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47141855..47146472)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44034633..44039250)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene SYS1-DBNDD2 readthrough (NMD candidate) Neighboring gene SYS1 golgi trafficking protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17950 Neighboring gene TP53 target 5 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 10 Neighboring gene uncharacterized LOC107985404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44035517-44036066 Neighboring gene uncharacterized LOC107985405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17951 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class T Neighboring gene uncharacterized LOC105372631 Neighboring gene microRNA 6812

    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. CK1BP Reduces α-Synuclein Oligomerization and Aggregation Independent of Serine 129 Phosphorylation. Elsholz L, et al. Cells, 2021 Oct 21. PMID 34831053, Free PMC Article
    2. The human orthologue of a novel apoptosis response gene induced during rat myelomonocytic stem cell apoptosis maps to 20q13.12. Lucas T, et al. Stem Cells Dev, 2005 Oct. PMID 16305340
    3. Dysbindin structural homologue CK1BP is an isoform-selective binding partner of human casein kinase-1. Yin H, et al. Biochemistry, 2006 Apr 25. PMID 16618118
    4. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    5. Charting the molecular links between driver and susceptibility genes in colorectal cancer. Arroyo R, et al. Biochem Biophys Res Commun, 2014 Mar 21. PMID 24412244

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CK1BP Reduces alpha-Synuclein Oligomerization and Aggregation Independent of Serine 129 Phosphorylation.
      Title: CK1BP Reduces α-Synuclein Oligomerization and Aggregation Independent of Serine 129 Phosphorylation.
    2. CK1BP is an isoform-selective binding partner of human casein kinase-1
      Title: Dysbindin structural homologue CK1BP is an isoform-selective binding partner of human casein kinase-1.
    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

    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

    Readthrough SYS1-DBNDD2

    Readthrough gene: SYS1-DBNDD2, Included gene: SYS1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dysbindin domain-containing protein 2
    Names
    SCF apoptosis response protein 1
    casein kinase-1 binding protein
    dysbindin (dystrobrevin binding protein 1) domain containing 2

    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.

    mRNA and Protein(s)

    1. NM_001048221.3 → NP_001041686.1  dysbindin domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_001041686.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 5, 7 and 8 all encode the same isoform (a).
      Source sequence(s)
      AL021578, AW516035, BP330715
      Consensus CDS
      CCDS42880.1
      UniProtKB/Swiss-Prot
      Q9BQY9
      Related
      ENSP00000361808.3, ENST00000372723.7
      Conserved Domains (1) summary
      pfam04440
      Location:12 → 157
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    2. NM_001048222.3 → NP_001041687.1  dysbindin domain-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_001041687.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the penultimate exon resulting in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a. Variants 2, 4, and 6 all encode the same isoform (b).
      Source sequence(s)
      AL021578, AW516035, BP330715, BX335176
      Consensus CDS
      CCDS42881.1
      UniProtKB/Swiss-Prot
      Q9BQY9
      Related
      ENSP00000361807.3, ENST00000372722.7
      Conserved Domains (1) summary
      pfam04440
      Location:12 → 80
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    3. NM_001048223.3 → NP_001041688.1  dysbindin domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_001041688.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 5, 7 and 8 all encode the same isoform (a).
      Source sequence(s)
      AJ276469, AL021578, AW516035, BM767886
      Consensus CDS
      CCDS42880.1
      UniProtKB/Swiss-Prot
      Q9BQY9
      Related
      ENSP00000354250.4, ENST00000360981.8
      Conserved Domains (1) summary
      pfam04440
      Location:12 → 157
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    4. NM_001048224.3 → NP_001041689.1  dysbindin domain-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_001041689.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, and uses an alternate splice site in the penultimate exon resulting in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a. Variants 2, 4, and 6 all encode the same isoform (b).
      Source sequence(s)
      AL021578, AW516035, BM767886
      Consensus CDS
      CCDS42881.1
      UniProtKB/Swiss-Prot
      Q9BQY9
      Related
      ENSP00000361802.1, ENST00000372717.5
      Conserved Domains (1) summary
      pfam04440
      Location:12 → 80
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    5. NM_001048225.4 → NP_001041690.3  dysbindin domain-containing protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct and longer N-terminus, compared to isoform a.
      Source sequence(s)
      AL021578, AY113697, BC023562
      Consensus CDS
      CCDS42880.1
      Related
      ENSP00000361795.4, ENST00000372710.5
      Conserved Domains (1) summary
      pfam04440
      Location:12 → 157
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    6. NM_001048226.4 → NP_001041691.3  dysbindin domain-containing protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) encodes isoform b. Variants 2, 4, and 6 all encode the same isoform (b).
      Source sequence(s)
      AL021578
      Conserved Domains (1) summary
      pfam04440
      Location:12 → 80
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    7. NM_001197139.2 → NP_001184068.1  dysbindin domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_001184068.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 5, 7 and 8 all encode the same isoform (a).
      Source sequence(s)
      AL021578, AW516035, CN347771
      Consensus CDS
      CCDS42880.1
      UniProtKB/Swiss-Prot
      Q9BQY9
      Related
      ENSP00000361797.2, ENST00000372712.6
      Conserved Domains (1) summary
      pfam04440
      Location:12 → 157
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    8. NM_001197140.2 → NP_001184069.1  dysbindin domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_001184069.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1, 5, 7 and 8 all encode the same isoform (a).
      Source sequence(s)
      AL021578, AW516035, CB155210
      Consensus CDS
      CCDS42880.1
      UniProtKB/Swiss-Prot
      Q9BQY9
      Related
      ENSP00000349822.2, ENST00000357275.6
      Conserved Domains (1) summary
      pfam04440
      Location:12 → 157
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    9. NM_018478.3 → NP_060948.3  dysbindin domain-containing protein 2 isoform e

      See identical proteins and their annotated locations for NP_060948.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (e) has a distinct and longer N-terminus, compared to isoform a.
      Source sequence(s)
      AF220191, AL021578, AW516035
      Consensus CDS
      CCDS56193.1
      UniProtKB/Swiss-Prot
      Q331S6, Q5QPV4, Q5QPV6, Q9BQY9, Q9BQZ0, Q9BVL1, Q9H1F6, Q9NWZ0, Q9NY07, Q9NZ31
      Related
      ENSP00000361805.3, ENST00000372720.7
      Conserved Domains (1) summary
      pfam04440
      Location:110 → 255
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45405993..45410610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47141855..47146472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQY9.3 GenPept UniProtKB/Swiss-Prot:Q9BQY9

    Gene LinkOut

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

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