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Gabrd Gene Detail
Summary
  • Symbol
    Gabrd
  • Name
    gamma-aminobutyric acid (GABA) A receptor, subunit delta
  • Feature Type
    protein coding gene
  • IDs
    MGI:95622
    NCBI Gene: 14403
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:155469437-155482528 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 86.17 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    540 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95622
 protein coding gene Chr4:155469437-155482569 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029212
 protein coding gene Chr4:159707863-159722096 (-)
A/J MGP_AJ_G0029177
 protein coding gene Chr4:152998960-153014292 (-)
AKR/J MGP_AKRJ_G0029125
 protein coding gene Chr4:157159559-157172687 (-)
BALB/cJ MGP_BALBcJ_G0029193
 protein coding gene Chr4:153471951-153484777 (-)
C3H/HeJ MGP_C3HHeJ_G0028914
 protein coding gene Chr4:157701068-157713937 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029642
 protein coding gene Chr4:165394599-165408854 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026888
 protein coding gene Chr4:145295984-145308898 (-)
CAST/EiJ MGP_CASTEiJ_G0028327
 protein coding gene Chr4:155142619-155155362 (-)
CBA/J MGP_CBAJ_G0028876
 protein coding gene Chr4:170367585-170380395 (-)
DBA/2J MGP_DBA2J_G0029025
 protein coding gene Chr4:153017028-153030072 (-)
FVB/NJ MGP_FVBNJ_G0028989
 protein coding gene Chr4:152260106-152273547 (-)
LP/J MGP_LPJ_G0029115
 protein coding gene Chr4:159630816-159646045 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029016
 protein coding gene Chr4:173215488-173229620 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029674
 protein coding gene Chr4:157772037-157785139 (-)
PWK/PhJ MGP_PWKPhJ_G0028047
 protein coding gene Chr4:149150741-149164140 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027881
 protein coding gene Chr4:152041139-152055265 (-)
WSB/EiJ MGP_WSBEiJ_G0028407
 protein coding gene Chr4:157945657-157959934 (-)



Homology
more
  • Human Ortholog
    GABRD, gamma-aminobutyric acid type A receptor subunit delta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABRD, gamma-aminobutyric acid type A receptor subunit delta
  • Synonyms
    EIG10, EJM7, GABAARdelta, GEFSP5
  • Links
    NCBI Gene ID: 2563
    neXtProt AC: NX_O14764
    UniProt: O14764

  • Chr Location
    1p36.33; chr1:2019329-2030758 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gabrd mouse models; 1 with human GABRD associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 2 alleles in 3 genetic backgrounds
    76 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 exhibit increased postpartum depression and anxiety behaviors, lethality of pups due to materal neglect, and increased cued and contextual conditional freezing.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    13
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
    966
  • Tissues
    46
  • cDNA Data
    12
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14403 NCBI Gene Model | MGI Sequence Detail 13092 C57BL/6J ±  kb
    transcript NM_001421173 RefSeq | MGI Sequence Detail 1982 C57BL/6  
    polypeptide P22933 UniProt | EBI | MGI Sequence Detail 449 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000007775 gamma-aminobutyric acid receptor subunit delta
      (term hierarchy)
    • InterPro Domains
      IPR008098 Gamma-aminobutyric-acid A receptor delta subunit
      IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
      IPR038050 Neuronal acetylcholine receptor
      IPR006201 Neurotransmitter-gated ion-channel
      IPR018000 Neurotransmitter-gated ion-channel, conserved site
      IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
      IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
      IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
      IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
    • GlyGen
      P22933 3 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 4
      cDNA 12
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9939, MGI:2140393
    References
    more
    • Summaries
      All 129
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 13
      Phenotypes 76
    • Earliest
      J:10726 Shivers BD, et al., Two novel GABAA receptor subunits exist in distinct neuronal subpopulations. Neuron. 1989 Sep;3(3):327-37
    • Latest
      J:353874 Wei X, et al., A therapeutic small molecule enhances gamma-oscillations and improves cognition/memory in Alzheimer's disease model mice. Proc Natl Acad Sci U S A. 2024 Aug 13;121(33):e2400420121
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory