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Tbc1d24 Gene Detail
Summary
  • Symbol
    Tbc1d24
  • Name
    TBC1 domain family, member 24
  • Synonyms
    C530046L02Rik, mKIAA1171
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443456
    NCBI Gene: 224617
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:24394405-24424536 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 12.30 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    776 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443456
 protein coding gene Chr17:24394405-24424536 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023292
 protein coding gene Chr17:23130821-23167456 (-)
A/J MGP_AJ_G0023252
 protein coding gene Chr17:22528018-22564781 (-)
AKR/J MGP_AKRJ_G0023219
 protein coding gene Chr17:22590785-22629145 (-)
BALB/cJ MGP_BALBcJ_G0023257
 protein coding gene Chr17:22705305-22740120 (-)
C3H/HeJ MGP_C3HHeJ_G0023017
 protein coding gene Chr17:22930815-22968989 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023700
 protein coding gene Chr17:24174308-24208154 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021177
 protein coding gene Chr17:19986991-20019923 (-)
CAST/EiJ MGP_CASTEiJ_G0022519
 protein coding gene Chr17:22767851-22803969 (-)
CBA/J MGP_CBAJ_G0022993
 protein coding gene Chr17:25000898-25037292 (-)
DBA/2J MGP_DBA2J_G0023122
 protein coding gene Chr17:22101507-22135792 (-)
FVB/NJ MGP_FVBNJ_G0023092
 protein coding gene Chr17:21818019-21854605 (-)
LP/J MGP_LPJ_G0023199
 protein coding gene Chr17:23447383-23482350 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023111
 protein coding gene Chr17:24722822-24757084 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023738
 protein coding gene Chr17:22858311-22894958 (-)
PWK/PhJ MGP_PWKPhJ_G0022268
 protein coding gene Chr17:20860667-20895197 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022087
 protein coding gene Chr17:20882340-20918762 (-)
WSB/EiJ MGP_WSBEiJ_G0022582
 protein coding gene Chr17:22926195-22962820 (-)



Homology
more
  • Human Ortholog
    TBC1D24, TBC1 domain family member 24
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBC1D24, TBC1 domain family member 24
  • Synonyms
    DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME, TLDC6
  • Links
    NCBI Gene ID: 57465
    neXtProt AC: NX_Q9ULP9
    UniProt: Q9ULP9

  • Chr Location
    16p13.3; chr16:2475051-2509560 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tbc1d24 mouse models; 8 with human TBC1D24 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 "NOT" models
IDs
 View 1 "NOT" model
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 6 alleles in 7 genetic backgrounds
    1 phenotype from multigenic genotypes
    10 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.
Mice heterozygous for a knock-out allele show altered primary neuron maturation and survival, impaired endocytosis and an enlarged endosomal compartment in neurons, and a decrease in spontaneous neurotransmission.
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
    842
  • Tissues
    31
  • cDNA Data
    41
  • Literature Summary
    7
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 224617 NCBI Gene Model | MGI Sequence Detail 30132 C57BL/6J ±  kb
transcript NM_001163852 RefSeq | MGI Sequence Detail 7946 C57BL/6  
polypeptide Q3UUG6 UniProt | EBI | MGI Sequence Detail 561 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 43
    cDNA 41
    Primer pair 1
    Other 1

    Microarray probesets 5
References
more
  • Summaries
    All 42
    Developmental Gene Expression 7
    Diseases 2
    Gene Ontology 9
    Phenotypes 10
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
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