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Barhl1 Gene Detail
Summary
  • Symbol
    Barhl1
  • Name
    BarH like homeobox 1
  • Synonyms
    Dres115, MBH2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859288
    NCBI Gene: 54422
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:28797691-28806680 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 19.38 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859288
 protein coding gene Chr2:28797691-28807996 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025534
 protein coding gene Chr2:26995537-27004496 (-)
A/J MGP_AJ_G0025511
 protein coding gene Chr2:25964953-25973928 (-)
AKR/J MGP_AKRJ_G0025481
 protein coding gene Chr2:26822456-26831389 (-)
BALB/cJ MGP_BALBcJ_G0025507
 protein coding gene Chr2:26086923-26095888 (-)
C3H/HeJ MGP_C3HHeJ_G0025268
 protein coding gene Chr2:26746283-26755239 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025951
 protein coding gene Chr2:27887795-27896752 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023361
 protein coding gene Chr2:24780643-24789615 (-)
CAST/EiJ MGP_CASTEiJ_G0024731
 protein coding gene Chr2:26653527-26663750 (-)
CBA/J MGP_CBAJ_G0025246
 protein coding gene Chr2:28837819-28847103 (-)
DBA/2J MGP_DBA2J_G0025379
 protein coding gene Chr2:25773778-25782739 (-)
FVB/NJ MGP_FVBNJ_G0025341
 protein coding gene Chr2:25567682-25576635 (-)
LP/J MGP_LPJ_G0025465
 protein coding gene Chr2:26936105-26945083 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025372
 protein coding gene Chr2:28843371-28852363 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026010
 protein coding gene Chr2:26739652-26748611 (-)
PWK/PhJ MGP_PWKPhJ_G0024478
 protein coding gene Chr2:25585340-25594440 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024278
 protein coding gene Chr2:26871894-26880844 (-)
WSB/EiJ MGP_WSBEiJ_G0024800
 protein coding gene Chr2:26875073-26884014 (-)



Homology
more
  • Human Ortholog
    BARHL1, BarH like homeobox 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BARHL1, BarH like homeobox 1
  • Links
    NCBI Gene ID: 56751
    neXtProt AC: NX_Q9BZE3
    UniProt: Q9BZE3

  • Chr Location
    9q34.13; chr9:132582606-132590252 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    9 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.
Homozygous mutation of this gene results in progressive hearing loss starting at 2 weeks of age. Animals are completely deaf by 10 months of age and show degeneration of the inner and outer cochlear hair cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • 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
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
    1092
  • Tissues
    152
  • cDNA Data
    17
  • Literature Summary
    60
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000026805 Ensembl Gene Model | MGI Sequence Detail 8990 C57BL/6J ±  kb
transcript ENSMUST00000050776 Ensembl | MGI Sequence Detail 3666 Not Applicable  
polypeptide ENSMUSP00000053147 Ensembl | MGI Sequence Detail 327 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 21
    cDNA 17
    Other 4

    Microarray probesets 3
References
more
  • Summaries
    All 87
    Developmental Gene Expression 60
    Gene Ontology 6
    Phenotypes 9
  • Earliest
    J:51411 Bulfone A, et al., The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Hum Mol Genet. 1998 Dec;7(13):1997-2006
  • Latest
    J:345248 Tran HN, et al., Dbx1 is a dorsal midbrain-specific determinant of GABAergic neuron fate and regulates differentiation of the dorsal midbrain into the inferior and superior colliculi. Front Cell Dev Biol. 2024;12:1336308
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
04/09/2024
MGI 6.23 		The Jackson Laboratory