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Tubb4a Gene Detail
Summary
  • Symbol
    Tubb4a
  • Name
    tubulin, beta 4A class IVA
  • Synonyms
    Tubb, Tubb4
  • Feature Type
    protein coding gene
  • IDs
    MGI:107848
    NCBI Gene: 22153
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:57387061-57394600 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 29.66 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    52 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107848
 protein coding gene Chr17:57387061-57394782 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023954
 protein coding gene Chr17:58835855-58845958 (-)
A/J MGP_AJ_G0023912
 protein coding gene Chr17:57206595-57214603 (-)
AKR/J MGP_AKRJ_G0023881
 protein coding gene Chr17:57927459-57934893 (-)
BALB/cJ MGP_BALBcJ_G0023913
 protein coding gene Chr17:57044595-57052157 (-)
C3H/HeJ MGP_C3HHeJ_G0023677
 protein coding gene Chr17:58650116-58658026 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024359
 protein coding gene Chr17:61112845-61122499 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021805
 protein coding gene Chr17:53682465-53689994 (-)
CAST/EiJ MGP_CASTEiJ_G0023159
 protein coding gene Chr17:58953011-58963070 (-)
CBA/J MGP_CBAJ_G0023653
 protein coding gene Chr17:63506792-63514770 (-)
DBA/2J MGP_DBA2J_G0023781
 protein coding gene Chr17:55901369-55909055 (-)
FVB/NJ MGP_FVBNJ_G0023747
 protein coding gene Chr17:55476724-55484318 (-)
LP/J MGP_LPJ_G0023863
 protein coding gene Chr17:59530412-59537840 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023775
 protein coding gene Chr17:62952061-62961422 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024403
 protein coding gene Chr17:58288927-58296483 (-)
PWK/PhJ MGP_PWKPhJ_G0022905
 protein coding gene Chr17:55270995-55278548 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022716
 protein coding gene Chr17:55060651-55067975 (-)
WSB/EiJ MGP_WSBEiJ_G0023225
 protein coding gene Chr17:58914278-58923374 (-)



Homology
more
  • Human Ortholog
    TUBB4A, tubulin beta 4A class IVa
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TUBB4A, tubulin beta 4A class IVa
  • Synonyms
    beta-5, DYT4, TUBB4
  • Links
    NCBI Gene ID: 10382
    neXtProt AC: NX_P04350
    UniProt: P04350

  • Chr Location
    19p13.3; chr19:6494319-6502848 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tubb4a mouse models; 2 with human TUBB4A associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    33 phenotypes from 5 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 homozygous for a null allele do not exhibit a phenotype. However, mice with an N414K mutation exhibit ataxia, reduction of myelination, cerebellum atrophy and granule cell neuron degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    11
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
non-membrane-bounded 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
    1049
  • Tissues
    194
  • cDNA Data
    62
  • Literature Summary
    51
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22153 NCBI Gene Model | MGI Sequence Detail 7540 C57BL/6J ±  kb
    transcript NM_009451 RefSeq | MGI Sequence Detail 2068 ZRU/MplStud  
    polypeptide Q9D6F9 UniProt | EBI | MGI Sequence Detail 444 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 71
      Genomic 1
      cDNA 63
      Primer pair 5
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15302, MGD-MRK-36425, MGI:2146828, MGI:98870
    References
    more
    • Summaries
      All 117
      Developmental Gene Expression 51
      Diseases 2
      Gene Ontology 11
      Phenotypes 10
    • Earliest
      J:31028 Cleveland DW, et al., Number and evolutionary conservation of alpha- and beta-tubulin and cytoplasmic beta- and gamma-actin genes using specific cloned cDNA probes. Cell. 1980 May;20(1):95-105
    • Latest
      J:344312 Liu H, et al., Epigenetic repression of Cend1 by lysine-specific demethylase 1 is essential for murine heart development. iScience. 2024 Jan 19;27(1):108722
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory