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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
  • Gene Overview
    MyGene.info: DTNBP1
Location & Maps
more
  • Sequence Map
    Chr13:44922079-45002096 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      80018 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 21.73 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    DTNBP1, dystrobrevin binding protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DTNBP1, dystrobrevin binding protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BLOC1S8, DBND, HPS7, My031, SDY
  • Links
    NCBI Gene ID: 84062
    neXtProt AC: NX_Q96EV8

  • Chr Location
    6p22.3; chr6:15522801-15663058 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Dtnbp1 mouse models; 2 with human DTNBP1 associations

Human Disease Mouse Models
       Hermansky-Pudlak Syndrome 7; HPS7   OMIM: 614076 View 1 model
Schizophrenia; SCZD   OMIM: 181500 View 2 models
       Storage Pool Platelet Disease   OMIM: 185050 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 3 alleles in 5 genetic backgrounds
    46 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.
  • All Mutations and Alleles
    53
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    46
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Dtnbp1
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000057531 Ensembl Gene Model | MGI Sequence Detail 80018 C57BL/6J ±  kb
transcript ENSMUST00000072329 Ensembl | MGI Sequence Detail 1311 Not Applicable  
polypeptide ENSMUSP00000072170 Ensembl | MGI Sequence Detail 352 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    491 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 61
    cDNA 61

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-14348, MGI:1914048, MGI:2145406, MGI:98271
References
more
  • Summaries
    All 78
    Developmental Gene Expression 5
    Diseases 11
    Gene Ontology 17
    Phenotypes 46
  • Earliest
    J:14267 Sweet HO, Sandy (sdy). Mouse Genome. 1990;86:237
  • Latest
    J:232354 White RS, et al., Cellular and circuit models of increased resting-state network gamma activity in schizophrenia. Neuroscience. 2016 May 3;321:66-76

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory