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

    Mouse Genome Browser

  • Download
    Sequence
      15867 bp   ±  kb flank

  • Genome Browsers
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

  • Chr Location
    17q25.1; chr17:75827225-75844717 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Unc13d mouse models; 1 with human UNC13D associations

Human Disease Mouse Models
       Hemophagocytic Lymphohistiocytosis, Familial, 3; FHL3   OMIM: 608898 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
    13 phenotypes from 1 allele in 1 genetic background
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    1
  • Gene trapped
    2
  • Targeted
    3
  • Incidental Mutations
Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus.
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003687 VEGA Gene Model | MGI Sequence Detail 15867 C57BL/6J ±  kb
transcript OTTMUST00000007989 VEGA | MGI Sequence Detail 4046 Not Applicable  
polypeptide OTTMUSP00000003882 VEGA | MGI Sequence Detail 1085 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    86 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000017089 protein unc-13 homolog D
  • InterPro Domains
    IPR000008 C2 domain
    IPR014772 Mammalian uncoordinated homology 13, domain 2
    IPR019558 Mammalian uncoordinated homology 13, subgroup, domain 2
    IPR014770 Munc13 homology 1
Molecular
Reagents
less
  • All nucleic 12
    cDNA 12

    Microarray probesets 2
Other
Accession IDs
less
MGI:3626342
References
more
  • Summaries
    All 39
    Diseases 1
    Gene Ontology 5
    Phenotypes 20
  • 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:223843 Vogl C, et al., Unconventional molecular regulation of synaptic vesicle replenishment in cochlear inner hair cells. J Cell Sci. 2015 Feb 15;128(4):638-44

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory