Format

Send to:

Choose Destination

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

Gene ID: 55861, updated on 1-Aug-2020

Summary

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
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
Expression
Broad expression in brain (RPKM 80.2), heart (RPKM 39.7) and 20 other tissues See more
Orthologs

Genomic context

See DBNDD2 in Genome Data Viewer
Location:
20q13.12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45405993..45410610)
105 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 TP53 target 5 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 10 Neighboring gene uncharacterized LOC107985404 Neighboring gene uncharacterized LOC107985405 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class T Neighboring gene microRNA 6812

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough SYS1-DBNDD2

Readthrough gene: SYS1-DBNDD2, Included gene: SYS1

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001048221.3NP_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:1299
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  2. NM_001048222.3NP_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. Both variants 2 and 4 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:1280
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  3. NM_001048223.3NP_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:1299
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  4. NM_001048224.3NP_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. Both variants 2 and 4 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:1280
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  5. NM_001048225.4NP_001041690.3  dysbindin domain-containing protein 2 isoform c

    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
    CCDS56194.1
  6. NM_001048226.4NP_001041691.3  dysbindin domain-containing protein 2 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, uses an alternate start codon, 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 (c) has distinct N- and C-termini and is overall longer than isoform a.
    Source sequence(s)
    AL021578
  7. NM_001197139.2NP_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:1299
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  8. NM_001197140.2NP_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:1299
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  9. NM_018478.3NP_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
    Q9BQY9
    Related
    ENSP00000361805.3, ENST00000372720.7
    Conserved Domains (1) summary
    pfam04440
    Location:110255
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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