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Kdm5a Gene Detail
Summary
  • Symbol
    Kdm5a
  • Name
    lysine demethylase 5A
  • Synonyms
    Jarid1a, MGC:11659, Rbbp2, RBP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2136980
    NCBI Gene: 214899
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:120341085-120421535 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 56.95 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    371 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2136980
 protein coding gene Chr6:120341060-120421535 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031203
 protein coding gene Chr6:123252504-123334669 (+)
A/J MGP_AJ_G0031172
 protein coding gene Chr6:118507173-118593715 (+)
AKR/J MGP_AKRJ_G0031103
 protein coding gene Chr6:121693275-121791557 (+)
BALB/cJ MGP_BALBcJ_G0031183
 protein coding gene Chr6:118274670-118358103 (+)
C3H/HeJ MGP_C3HHeJ_G0030526
 protein coding gene Chr6:62516594-62609228 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031641
 protein coding gene Chr6:126397973-126481697 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028801
 protein coding gene Chr6:115419415-115489242 (+)
CAST/EiJ MGP_CASTEiJ_G0030290
 protein coding gene Chr6:122135458-122225477 (+)
CBA/J MGP_CBAJ_G0030866
 protein coding gene Chr6:131418227-131516019 (+)
DBA/2J MGP_DBA2J_G0031022
 protein coding gene Chr6:117396982-117478134 (+)
FVB/NJ MGP_FVBNJ_G0030974
 protein coding gene Chr6:116517390-116603219 (+)
LP/J MGP_LPJ_G0031101
 protein coding gene Chr6:123240239-123324139 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031008
 protein coding gene Chr6:135410151-135498058 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031670
 protein coding gene Chr6:121729594-121813221 (+)
PWK/PhJ MGP_PWKPhJ_G0030005
 protein coding gene Chr6:116435645-116517275 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029834
 protein coding gene Chr6:120454619-120547594 (+)
WSB/EiJ MGP_WSBEiJ_G0030373
 protein coding gene Chr6:122020660-122106825 (+)



Homology
more
  • Human Ortholog
    KDM5A, lysine demethylase 5A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KDM5A, lysine demethylase 5A
  • Synonyms
    NEDEHC, RBBP-2, RBBP2, RBP2
  • Links
    NCBI Gene ID: 5927
    neXtProt AC: NX_P29375
    UniProt: P29375

  • Chr Location
    12p13.33; chr12:280057-389320 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human KDM5A 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
    10 phenotypes from 2 alleles in 5 genetic backgrounds
    11 phenotypes from multigenic genotypes
    19 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 knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatalsurvival is sensitive to genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    39
  • GO References
    10
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
    813
  • Tissues
    71
  • cDNA Data
    29
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030180 Ensembl Gene Model | MGI Sequence Detail 80451 C57BL/6J ±  kb
    transcript ENSMUST00000005108 Ensembl | MGI Sequence Detail 10944 Not Applicable  
    polypeptide ENSMUSP00000005108 Ensembl | MGI Sequence Detail 1690 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 31
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1353553, MGI:2141364
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 12
      Gene Ontology 10
      Phenotypes 19
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:343280 El Hayek L, et al., Disruption of the autism gene and chromatin regulator KDM5A alters hippocampal cell identity. Sci Adv. 2023 Nov 24;9(47):eadi0074
    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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory