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Pitpnm2 Gene Detail
Summary
  • Symbol
    Pitpnm2
  • Name
    phosphatidylinositol transfer protein, membrane-associated 2
  • Synonyms
    mKIAA1457, NIR3, Rdgb2, RDGBA2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1336192
    NCBI Gene: 19679
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:124256753-124387823 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 63.39 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    467 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_1336192
 protein coding gene Chr5:124256752-124387973 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030090
 protein coding gene Chr5:127906895-128046518 (-)
A/J MGP_AJ_G0030055
 protein coding gene Chr5:122585784-122720278 (-)
AKR/J MGP_AKRJ_G0029991
 protein coding gene Chr5:126532323-126670699 (-)
BALB/cJ MGP_BALBcJ_G0030066
 protein coding gene Chr5:123921577-124056247 (-)
C3H/HeJ MGP_C3HHeJ_G0029783
 protein coding gene Chr5:127150161-127284475 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030519
 protein coding gene Chr5:132864895-133009481 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027745
 protein coding gene Chr5:117121348-117252454 (-)
CAST/EiJ MGP_CASTEiJ_G0029191
 protein coding gene Chr5:126259453-126401290 (-)
CBA/J MGP_CBAJ_G0029753
 protein coding gene Chr5:138097657-138240682 (-)
DBA/2J MGP_DBA2J_G0029903
 protein coding gene Chr5:122608427-122739744 (-)
FVB/NJ MGP_FVBNJ_G0029859
 protein coding gene Chr5:121640451-121775801 (-)
LP/J MGP_LPJ_G0029992
 protein coding gene Chr5:128455678-128594868 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029890
 protein coding gene Chr5:141677909-141816760 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030560
 protein coding gene Chr5:126154685-126290600 (-)
PWK/PhJ MGP_PWKPhJ_G0028906
 protein coding gene Chr5:121420654-121554497 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028743
 protein coding gene Chr5:123799783-123940793 (-)
WSB/EiJ MGP_WSBEiJ_G0029267
 protein coding gene Chr5:126826860-126962662 (-)



Homology
more
  • Human Ortholog
    PITPNM2, phosphatidylinositol transfer protein membrane associated 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PITPNM2, phosphatidylinositol transfer protein membrane associated 2
  • Synonyms
    NIR3, NIR-3, RDGB2, RDGBA2
  • Links
    NCBI Gene ID: 57605
    neXtProt AC: NX_Q9BZ72
    UniProt: Q9BZ72

  • Chr Location
    12q24.31; chr12:122983480-123110489 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    11 phenotype references
Homozygous null mice are viable, fertile, and show no defects pertaining to photoreceptor function or survival.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    8
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    786
  • Tissues
    57
  • cDNA Data
    49
  • Literature Summary
    5
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000029406 Ensembl Gene Model | MGI Sequence Detail 131071 C57BL/6J ±  kb
transcript ENSMUST00000161938 Ensembl | MGI Sequence Detail 5866 Not Applicable  
polypeptide ENSMUSP00000124111 Ensembl | MGI Sequence Detail 1335 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 54
    cDNA 51
    Primer pair 2
    Other 1

    Microarray probesets 5
References
more
  • Summaries
    All 45
    Developmental Gene Expression 5
    Gene Ontology 8
    Phenotypes 11
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:283057 Kirmiz M, et al., Neuronal ER-plasma membrane junctions organized by Kv2-VAP pairing recruit Nir proteins and affect phosphoinositide homeostasis. J Biol Chem. 2019 Nov 22;294(47):17735-17757
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
09/22/2022
MGI 6.21 		The Jackson Laboratory