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Dtnbp1 Gene Detail
Summary
  • Symbol
    Dtnbp1
  • Name
    dystrobrevin binding protein 1
  • Synonyms
    5430437B18Rik, Bloc1s8, dysbindin, sdy
  • Feature Type
    protein coding gene
  • IDs
    MGI:2137586
    NCBI Gene: 94245
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:45075552-45155614 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 21.73 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    492 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2137586
 protein coding gene Chr13:45075551-45155623 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020505
 protein coding gene Chr13:43609175-43689469 (-)
A/J MGP_AJ_G0020459
 protein coding gene Chr13:42098918-42181312 (-)
AKR/J MGP_AKRJ_G0020437
 protein coding gene Chr13:43278204-43364336 (-)
BALB/cJ MGP_BALBcJ_G0020455
 protein coding gene Chr13:42309818-42390197 (-)
C3H/HeJ MGP_C3HHeJ_G0020254
 protein coding gene Chr13:43120303-43203750 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020888
 protein coding gene Chr13:44940674-45029396 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018475
 protein coding gene Chr13:40177734-40258275 (-)
CAST/EiJ MGP_CASTEiJ_G0019769
 protein coding gene Chr13:42994131-43083332 (-)
CBA/J MGP_CBAJ_G0020215
 protein coding gene Chr13:46834294-46922362 (-)
DBA/2J MGP_DBA2J_G0020337
 protein coding gene Chr13:41664166-41745204 (-)
FVB/NJ MGP_FVBNJ_G0020316
 protein coding gene Chr13:41184783-41264304 (-)
LP/J MGP_LPJ_G0020412
 protein coding gene Chr13:43838267-43926661 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020345
 protein coding gene Chr13:46691704-46782689 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020931
 protein coding gene Chr13:42932645-43014738 (-)
PWK/PhJ MGP_PWKPhJ_G0019524
 protein coding gene Chr13:41785050-41865978 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019354
 protein coding gene Chr13:41587800-41669783 (-)
WSB/EiJ MGP_WSBEiJ_G0019831
 protein coding gene Chr13:43244865-43329380 (-)



Homology
more
  • Human Ortholog
    DTNBP1, dystrobrevin binding protein 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DTNBP1, dystrobrevin binding protein 1
  • Synonyms
    BLOC1S8, DBND, HPS7, My031, SDY
  • Links
    NCBI Gene ID: 84062
    neXtProt AC: NX_Q96EV8
    UniProt: Q96EV8

  • Chr Location
    6p22.3; chr6:15522807-15663058 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Dtnbp1 mouse models; 2 with human DTNBP1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 2 models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypes from 3 alleles in 5 genetic backgrounds
    79 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations at this locus result in pigmentation anomalies of the coat and eye as well as prolonged bleeding times due to platelet abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    91
  • GO References
    25
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    757
  • Tissues
    30
  • cDNA Data
    60
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 94245 NCBI Gene Model | MGI Sequence Detail 80063 C57BL/6J ±  kb
    transcript NM_025772 RefSeq | MGI Sequence Detail 1311 ZRU/MplStud  
    polypeptide Q91WZ8 UniProt | EBI | MGI Sequence Detail 352 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 65
      cDNA 62
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14348, MGI:1914048, MGI:2145406, MGI:98271
    References
    more
    • Summaries
      All 133
      Developmental Gene Expression 8
      Diseases 5
      Gene Ontology 25
      Phenotypes 79
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory