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Pabir1 Gene Detail
Summary
  • Symbol
    Pabir1
  • Name
    PP2A A alpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1
  • Synonyms
    2410124L17Rik, 2900009I07Rik, Fam122a, Gm9849
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915284
    NCBI Gene: 68034
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:24453866-24454720 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 19.53 cM, cytoband C1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    76 from dbSNP Build 142
  • Strain Annotations
    14
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915284
 protein coding gene Chr19:24451270-24454819 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024995
 protein coding gene Chr19:22705541-22706395 (-)
A/J MGP_AJ_G0024972
 protein coding gene Chr19:21456062-21456916 (-)
AKR/J no annotation
BALB/cJ MGP_BALBcJ_G0024971
 protein coding gene Chr19:21514189-21515043 (-)
C3H/HeJ no annotation
C57BL/6NJ MGP_C57BL6NJ_G0025412
 protein coding gene Chr19:23422811-23423665 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022831
 protein coding gene Chr19:21628396-21629256 (-)
CAST/EiJ MGP_CASTEiJ_G0024197
 protein coding gene Chr19:21988425-21989279 (-)
CBA/J no annotation
DBA/2J no annotation
FVB/NJ MGP_FVBNJ_G0024799
 protein coding gene Chr19:21343695-21344549 (-)
LP/J MGP_LPJ_G0024922
 protein coding gene Chr19:22660604-22661458 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024826
 protein coding gene Chr19:24458986-24459840 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025467
 protein coding gene Chr19:22289337-22290191 (-)
PWK/PhJ MGP_PWKPhJ_G0023945
 protein coding gene Chr19:21072758-21073612 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023750
 protein coding gene Chr19:21523540-21524394 (-)
WSB/EiJ MGP_WSBEiJ_G0024264
 protein coding gene Chr19:22315483-22316337 (-)



Homology
more
  • Human Ortholog
    PABIR1, PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PABIR1, PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1
  • Synonyms
    C9orf42, FAM122A
  • Links
    NCBI Gene ID: 116224
    neXtProt AC: NX_Q96E09
    UniProt: Q96E09

  • Chr Location
    9q21.11; chr9:68780065-68785566 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 2 alleles in 3 genetic backgrounds
    4 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 show embryonic lethality from E9.5-E12.5 with growth defects, open anterior neural folds, somite formation and turning defects and severe cardiovascular development defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • 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
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
    718
  • Tissues
    4
  • cDNA Data
    13
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074922 Ensembl Gene Model | MGI Sequence Detail 855 C57BL/6J ±  kb
    transcript ENSMUST00000099556 Ensembl | MGI Sequence Detail 855 Not Applicable  
    polypeptide ENSMUSP00000097152 Ensembl | MGI Sequence Detail 284 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 14
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1920926, MGI:3708647, MGI:7414057
    References
    more
    • Summaries
      All 26
      Developmental Gene Expression 1
      Gene Ontology 3
      Phenotypes 4
    • 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:337007 Yang YS, et al., FAM122A Is Required for Mesendodermal and Cardiac Differentiation of Embryonic Stem Cells. Stem Cells. 2023 Apr 25;41(4):354-367
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory