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Heatr5b Gene Detail
Summary
  • Symbol
    Heatr5b
  • Name
    HEAT repeat containing 5B
  • Synonyms
    2010013B10Rik, A230048G03Rik, D330050P16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444098
    NCBI Gene: 320473
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:79060327-79142793 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 49.54 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2977 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444098
 protein coding gene Chr17:79060327-79142810 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024040
 protein coding gene Chr17:81590390-81670432 (-)
A/J MGP_AJ_G0023997
 protein coding gene Chr17:79089549-79169730 (-)
AKR/J MGP_AKRJ_G0023966
 protein coding gene Chr17:80288180-80370511 (-)
BALB/cJ MGP_BALBcJ_G0023999
 protein coding gene Chr17:78954573-79034979 (-)
C3H/HeJ MGP_C3HHeJ_G0023763
 protein coding gene Chr17:81189956-81276732 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024444
 protein coding gene Chr17:84565193-84650351 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021887
 protein coding gene Chr17:74484552-74564414 (-)
CAST/EiJ MGP_CASTEiJ_G0023243
 protein coding gene Chr17:81792477-81880241 (-)
CBA/J MGP_CBAJ_G0023737
 protein coding gene Chr17:88104235-88182871 (-)
DBA/2J MGP_DBA2J_G0023866
 protein coding gene Chr17:77607318-77688870 (-)
FVB/NJ MGP_FVBNJ_G0023832
 protein coding gene Chr17:77128852-77207617 (-)
LP/J MGP_LPJ_G0023949
 protein coding gene Chr17:82436259-82518303 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023860
 protein coding gene Chr17:88206542-88303001 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024488
 protein coding gene Chr17:80765664-80849633 (-)
PWK/PhJ MGP_PWKPhJ_G0022989
 protein coding gene Chr17:77100469-77184057 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022800
 protein coding gene Chr17:77561713-77642746 (-)
WSB/EiJ MGP_WSBEiJ_G0023310
 protein coding gene Chr17:81583465-81664484 (-)



Homology
more
  • Human Ortholog
    HEATR5B, HEAT repeat containing 5B
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HEATR5B, HEAT repeat containing 5B
  • Synonyms
    p200, p200a
  • Links
    NCBI Gene ID: 54497
    neXtProt AC: NX_Q9P2D3
    UniProt: Q9P2D3

  • Chr Location
    2p22.2; chr2:36968383-37084372 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    6 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
    13
  • GO References
    6
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
    12
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000039414 Ensembl Gene Model | MGI Sequence Detail 82467 C57BL/6J ±  kb
transcript ENSMUST00000097281 Ensembl | MGI Sequence Detail 6388 Not Applicable  
polypeptide ENSMUSP00000094882 Ensembl | MGI Sequence Detail 2070 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    cDNA 12

    Microarray probesets 4
Other
Accession IDs
less
MGI:1919323, MGI:2147016, MGI:2444838
References
more
  • Summaries
    All 30
    Gene Ontology 6
    Phenotypes 6
  • 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:341546 Ghosh SG, et al., Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. Eur J Hum Genet. 2021 Jun;29(6):957-964
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
12/10/2024
MGI 6.24 		The Jackson Laboratory