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Tpcn2 Gene Detail
Summary
  • Symbol
    Tpcn2
  • Name
    two pore segment channel 2
  • Synonyms
    D830047E22Rik, MGC:32411
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385297
    NCBI Gene: 233979
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:144740261-144837748 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 89.02 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1602 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385297
 protein coding gene Chr7:144735370-144837748 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033296
 protein coding gene Chr7:150661247-150693663 (-)
A/J MGP_AJ_G0033279
 protein coding gene Chr7:146290220-146321720 (-)
AKR/J MGP_AKRJ_G0033210
 protein coding gene Chr7:150389637-150419496 (-)
BALB/cJ MGP_BALBcJ_G0033279
 protein coding gene Chr7:146051105-146081829 (-)
C3H/HeJ MGP_C3HHeJ_G0032993
 protein coding gene Chr7:150162218-150192316 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033789
 protein coding gene Chr7:156080606-156110626 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030762
 protein coding gene Chr7:147433587-147463852 (-)
CAST/EiJ MGP_CASTEiJ_G0032316
 protein coding gene Chr7:142439895-142511650 (-)
CBA/J MGP_CBAJ_G0032966
 protein coding gene Chr7:161380618-161411964 (-)
DBA/2J MGP_DBA2J_G0033120
 protein coding gene Chr7:144253017-144282959 (-)
FVB/NJ MGP_FVBNJ_G0033068
 protein coding gene Chr7:144198195-144230983 (-)
LP/J MGP_LPJ_G0033212
 protein coding gene Chr7:152224175-152254075 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033102
 protein coding gene Chr7:161909499-161940974 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033807
 protein coding gene Chr7:149358906-149390121 (-)
PWK/PhJ MGP_PWKPhJ_G0032026
 protein coding gene Chr7:137541254-137613978 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031870
 protein coding gene Chr7:136159261-136190215 (-)
WSB/EiJ MGP_WSBEiJ_G0032429
 protein coding gene Chr7:150356113-150392057 (-)



Homology
more
  • Human Ortholog
    TPCN2, two pore segment channel 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TPCN2, two pore segment channel 2
  • Synonyms
    SHEP10, TPC2
  • Links
    NCBI Gene ID: 219931
    neXtProt AC: NX_Q8NHX9
    UniProt: Q8NHX9

  • Chr Location
    11q13.3; chr11:69048932-69136316 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TPCN2 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
    12 phenotypes from 5 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    33 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 gene trapped allele exhibit altered beta cell calcium ion physiology. Hetero- or homozygosity for a gain of function mutation leads to lysosomal acidification, enhanced lysosomal calcium ion release and reduced eye, coat and tail pigmentation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    57
  • GO References
    14
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
    776
  • Tissues
    43
  • cDNA Data
    10
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048677 Ensembl Gene Model | MGI Sequence Detail 97488 C57BL/6J ±  kb
    transcript ENSMUST00000058022 Ensembl | MGI Sequence Detail 2993 Not Applicable  
    polypeptide ENSMUSP00000061308 Ensembl | MGI Sequence Detail 731 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 11
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2443261
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 2
      Gene Ontology 14
      Phenotypes 33
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory