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Tmem30a Gene Detail
Summary
  • Symbol
    Tmem30a
  • Name
    transmembrane protein 30A
  • Synonyms
    2010200I23Rik, Cdc50a, D9Wsu20e
  • Feature Type
    protein coding gene
  • IDs
    MGI:106402
    NCBI Gene: 69981
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:79676223-79700712 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 43.82 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    620 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106402
 protein coding gene Chr9:79676223-79700789 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035076
 protein coding gene Chr9:80306351-80334129 (-)
A/J MGP_AJ_G0035057
 protein coding gene Chr9:77565578-77590192 (-)
AKR/J MGP_AKRJ_G0034985
 protein coding gene Chr9:79368149-79392706 (-)
BALB/cJ MGP_BALBcJ_G0035045
 protein coding gene Chr9:77185617-77210828 (-)
C3H/HeJ MGP_C3HHeJ_G0034757
 protein coding gene Chr9:79892847-79918157 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035568
 protein coding gene Chr9:82494117-82521375 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032475
 protein coding gene Chr9:76700771-76724662 (-)
CAST/EiJ MGP_CASTEiJ_G0034075
 protein coding gene Chr9:80224691-80254510 (-)
CBA/J MGP_CBAJ_G0034730
 protein coding gene Chr9:85431764-85459052 (-)
DBA/2J MGP_DBA2J_G0034888
 protein coding gene Chr9:77172516-77197768 (-)
FVB/NJ MGP_FVBNJ_G0034831
 protein coding gene Chr9:76389208-76413788 (-)
LP/J MGP_LPJ_G0034969
 protein coding gene Chr9:80563948-80594860 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034873
 protein coding gene Chr9:86670576-86699090 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035589
 protein coding gene Chr9:79586121-79614690 (-)
PWK/PhJ MGP_PWKPhJ_G0033779
 protein coding gene Chr9:77372878-77398487 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033615
 protein coding gene Chr9:79723184-79750341 (-)
WSB/EiJ MGP_WSBEiJ_G0034192
 protein coding gene Chr9:79524968-79551429 (-)



Homology
more
  • Human Ortholog
    TMEM30A, transmembrane protein 30A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TMEM30A, transmembrane protein 30A
  • Synonyms
    C6orf67, CDC50A
  • Links
    NCBI Gene ID: 55754
    neXtProt AC: NX_Q9NV96
    UniProt: Q9NV96

  • Chr Location
    6q14.1; chr6:75252924-75284948 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    30 phenotypes from 3 alleles in 7 genetic backgrounds
    25 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.
Constitutive or neuronal conditional knockout is embryonic lethal. Conditional KO in the retina results in post-natal retinal degeneration. Conditional KO in the liver leads to jaundice, increased bilirubin and bile salt levels, liver inflammation and liver fibrosis.
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
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
    712
  • Tissues
    2
  • cDNA Data
    17
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 69981 NCBI Gene Model | MGI Sequence Detail 24490 C57BL/6J ±  kb
    transcript NM_133718 RefSeq | MGI Sequence Detail 3680 ZRU/MplStud  
    polypeptide Q8VEK0 UniProt | EBI | MGI Sequence Detail 364 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000016423 cell cycle control protein 50A
      (term hierarchy)
    • InterPro Domains
      IPR005045 CDC50/LEM3 family
    • GlyGen
      Q8VEK0 7 sites, 16 N-linked glycans (6 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Primer pair 1

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGD-MRK-34095, MGI:1917231, MGI:2143313
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 2
      Gene Ontology 10
      Phenotypes 25
    • Earliest
      J:12013 Russell LB, Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res. 1971 Jan;11(1):107-23
    • 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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory