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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
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:115952921-115968787 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 80.91 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    508 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 Chr11:115952921-115969321 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UNC13D, unc-13 homolog D
  • Synonyms
    FHL3, HLH3, HPLH3, Munc13-4
  • Links
    NCBI Gene ID: 201294
    neXtProt AC: NX_Q70J99
    UniProt: Q70J99

  • Chr Location
    17q25.1; chr17:75827225-75844785 (-)  GRCh38
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
less
  • Phenotype Summary
    22 phenotypes from 2 alleles in 2 genetic backgrounds
    45 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.
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
    32
  • 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
    706
  • cDNA Data
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 69
      Diseases 1
      Gene Ontology 9
      Phenotypes 45
    • 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:348041 Kogl T, et al., Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect. J Exp Med. 2024 Jul 1;221(7)
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory