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

Gene ID: 55861, updated on 27-Nov-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
Involved in negative regulation of protein kinase activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in brain (RPKM 80.2), heart (RPKM 39.7) and 20 other tissues See more
Orthologs
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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: 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. 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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