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Doc2a Gene Detail
Summary
  • Symbol
    Doc2a
  • Name
    double C2, alpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:109446
    NCBI Gene: 13446
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126446588-126451877 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.25 cM, cytoband F4
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    135 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109446
 protein coding gene Chr7:126446525-126451877 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033003
 protein coding gene Chr7:131153817-131159106 (+)
A/J MGP_AJ_G0032986
 protein coding gene Chr7:127673242-127678531 (+)
AKR/J MGP_AKRJ_G0032918
 protein coding gene Chr7:130908547-130913836 (+)
BALB/cJ MGP_BALBcJ_G0032991
 protein coding gene Chr7:127336754-127342043 (+)
C3H/HeJ MGP_C3HHeJ_G0032701
 protein coding gene Chr7:130846707-130851996 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033497
 protein coding gene Chr7:136254266-136259555 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030469
 protein coding gene Chr7:128867390-128872155 (+)
CAST/EiJ MGP_CASTEiJ_G0032030
 protein coding gene Chr7:122632628-122637925 (+)
CBA/J MGP_CBAJ_G0032674
 protein coding gene Chr7:140840460-140845749 (+)
DBA/2J MGP_DBA2J_G0032826
 protein coding gene Chr7:125648804-125654093 (+)
FVB/NJ MGP_FVBNJ_G0032779
 protein coding gene Chr7:125498985-125504274 (+)
LP/J MGP_LPJ_G0032920
 protein coding gene Chr7:132619982-132625271 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032811
 protein coding gene Chr7:142010554-142015843 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033516
 protein coding gene Chr7:129918359-129923648 (+)
PWK/PhJ MGP_PWKPhJ_G0031737
 protein coding gene Chr7:118643204-118648493 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031583
 protein coding gene Chr7:116764106-116769387 (+)
WSB/EiJ MGP_WSBEiJ_G0032142
 protein coding gene Chr7:130897680-130902969 (+)



Homology
more
  • Human Ortholog
    DOC2A, double C2 domain alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DOC2A, double C2 domain alpha
  • Synonyms
    Doc2
  • Links
    NCBI Gene ID: 8448
    neXtProt AC: NX_Q14183
    UniProt: Q14183

  • Chr Location
    16p11.2; chr16:30005514-30023270 (-)  GRCh38
Human Diseases
less
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    6 phenotypes from multigenic genotypes
    52 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.
Homozygous inactivation of this locus affects excitatory synaptic transmission, LTP, and learning/memory.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    9
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
membraneless 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
    708
  • Tissues
    1
  • cDNA Data
    7
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000052301 Ensembl Gene Model | MGI Sequence Detail 5290 C57BL/6J ±  kb
transcript ENSMUST00000064110 Ensembl | MGI Sequence Detail 2538 Not Applicable  
polypeptide ENSMUSP00000070119 Ensembl | MGI Sequence Detail 405 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-38491
References
more
  • Summaries
    All 81
    Developmental Gene Expression 2
    Diseases 3
    Gene Ontology 9
    Phenotypes 52
  • Earliest
    J:38862 Naito A, et al., Molecular cloning of mouse Doc2alpha and distribution of its mRNA in adult mouse brain. Brain Res Mol Brain Res. 1997 Mar;44(2):198-204
  • Latest
    J:351576 Guiberson NGL, et al., Disease-linked mutations in Munc18-1 deplete synaptic Doc2. Brain. 2024 Jun 3;147(6):2185-2202
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
11/12/2024
MGI 6.24 		The Jackson Laboratory