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Heatr3 Gene Detail
Summary
  • Symbol
    Heatr3
  • Name
    HEAT repeat containing 3
  • Synonyms
    C030036P15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444491
    NCBI Gene: 234549
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:88864483-88898655 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 43.06 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    914 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444491
 protein coding gene Chr8:88864453-88901656 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033916
 protein coding gene Chr8:89196300-89236867 (+)
A/J MGP_AJ_G0033899
 protein coding gene Chr8:85694127-85726903 (+)
AKR/J MGP_AKRJ_G0033825
 protein coding gene Chr8:88202854-88238467 (+)
BALB/cJ MGP_BALBcJ_G0033892
 protein coding gene Chr8:85854505-85888592 (+)
C3H/HeJ MGP_C3HHeJ_G0033602
 protein coding gene Chr8:88821705-88854662 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034412
 protein coding gene Chr8:92559749-92601980 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031354
 protein coding gene Chr8:79676497-79714296 (+)
CAST/EiJ MGP_CASTEiJ_G0032933
 protein coding gene Chr8:88240597-88280078 (+)
CBA/J MGP_CBAJ_G0033578
 protein coding gene Chr8:95699844-95737476 (+)
DBA/2J MGP_DBA2J_G0033731
 protein coding gene Chr8:85282318-85316715 (+)
FVB/NJ MGP_FVBNJ_G0033678
 protein coding gene Chr8:84240664-84276993 (+)
LP/J MGP_LPJ_G0033823
 protein coding gene Chr8:89309091-89345019 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033721
 protein coding gene Chr8:98175226-98211242 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034431
 protein coding gene Chr8:88209615-88250846 (+)
PWK/PhJ MGP_PWKPhJ_G0032636
 protein coding gene Chr8:84553543-84587019 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032472
 protein coding gene Chr8:87025846-87060457 (+)
WSB/EiJ MGP_WSBEiJ_G0033044
 protein coding gene Chr8:88659462-88695184 (+)



Homology
more
  • Human Ortholog
    HEATR3, HEAT repeat containing 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HEATR3, HEAT repeat containing 3
  • Synonyms
    DBA21, SYO1
  • Links
    NCBI Gene ID: 55027
    neXtProt AC: NX_Q7Z4Q2
    UniProt: Q7Z4Q2

  • Chr Location
    16q12.1; chr16:50065967-50107272 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human HEATR3 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    35 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    9
  • GO References
    3
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
    706
  • cDNA Data
    53
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031657 Ensembl Gene Model | MGI Sequence Detail 34173 C57BL/6J ±  kb
    transcript ENSMUST00000034079 Ensembl | MGI Sequence Detail 3251 Not Applicable  
    polypeptide ENSMUSP00000034079 Ensembl | MGI Sequence Detail 679 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000029538 HEAT repeat-containing protein 3
      (term hierarchy)
    • InterPro Domains
      IPR011989 Armadillo-like helical
      IPR016024 Armadillo-type fold
      IPR052616 Nuclear Import and Ribosome Assembly Adapter
    • GlyGen
      Q8BQM4 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 55
      cDNA 54
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 55
      Gene Ontology 3
      Phenotypes 35
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory