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Unc13d Gene Detail
Summary
  • Symbol
    Unc13d
  • Name
    unc-13 homolog D
  • Synonyms
    2610108D09Rik, Jinx, Munc13-4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917700
    NCBI Gene: 70450
  • Gene Overview
    MyGene.info: UNC13D
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:116062095-116077961 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 80.91 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    86 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917700
protein coding gene Chr11:116062095-116078195 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019412
protein coding gene Chr11:120148619-120164124 (-)
A/J MGP_AJ_G0019381
protein coding gene Chr11:114896751-114913138 (-)
AKR/J MGP_AKRJ_G0019351
protein coding gene Chr11:118324132-118339879 (-)
BALB/cJ MGP_BALBcJ_G0019355
protein coding gene Chr11:115309471-115325179 (-)
C3H/HeJ MGP_C3HHeJ_G0019161
protein coding gene Chr11:118674627-118690665 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019805
protein coding gene Chr11:123824644-123841778 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017428
protein coding gene Chr11:111914328-111930925 (-)
CAST/EiJ MGP_CASTEiJ_G0018716
protein coding gene Chr11:120023611-120039924 (-)
CBA/J MGP_CBAJ_G0019133
protein coding gene Chr11:128714393-128730050 (-)
DBA/2J MGP_DBA2J_G0019244
protein coding gene Chr11:114314517-114330588 (-)
FVB/NJ MGP_FVBNJ_G0019236
protein coding gene Chr11:113827106-113843322 (-)
LP/J MGP_LPJ_G0019314
protein coding gene Chr11:120526453-120543401 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019269
protein coding gene Chr11:127811198-127826958 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019843
protein coding gene Chr11:118979776-118996178 (-)
PWK/PhJ MGP_PWKPhJ_G0018480
protein coding gene Chr11:115647660-115663104 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018273
protein coding gene Chr11:118734082-118750179 (-)
WSB/EiJ MGP_WSBEiJ_G0018768
protein coding gene Chr11:118938479-118955064 (-)



Homology
more
  • Human Ortholog
    UNC13D, unc-13 homolog D
  • Vertebrate Orthologs
    10
  • Human Ortholog
    UNC13D, unc-13 homolog D
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FHL3, HLH3, HPLH3, Munc13-4
  • Links
    NCBI Gene ID: 201294
    neXtProt AC: NX_Q70J99
    UniProt: Q70J99

  • Chr Location
    17q25.1; chr17:75827225-75844717 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 26714
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: UNC13D
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Unc13d mouse models; 1 with human UNC13D associations

Human Disease Mouse 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
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    30 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Targeted deletion of this gene leads to defective hemostasis, abrogated thrombus formation and protection of homozygotes from ischemic stroke in the absence of intracranial bleeding. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000057948 Ensembl Gene Model | MGI Sequence Detail 15867 C57BL/6J ±  kb
transcript ENSMUST00000106450 Ensembl | MGI Sequence Detail 4046 Not Applicable  
polypeptide ENSMUSP00000102058 Ensembl | MGI Sequence Detail 1085 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 13
    cDNA 13

    Microarray probesets 2
Other
Accession IDs
less
MGI:3626342
References
more
  • Summaries
    All 50
    Diseases 1
    Gene Ontology 6
    Phenotypes 30
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:264055 Bin NR, et al., C2 Domains of Munc13-4 Are Crucial for Ca(2+)-Dependent Degranulation and Cytotoxicity in NK Cells. J Immunol. 2018 Jul 15;201(2):700-713

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
12/04/2018
MGI 6.13
The Jackson Laboratory