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Tmem53 Gene Detail
Summary
  • Symbol
    Tmem53
  • Name
    transmembrane protein 53
  • Synonyms
    1110038M16Rik, 1500001P22Rik, 1700012A05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916027
    NCBI Gene: 68777
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:117109148-117125779 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 53.43 cM, cytoband D1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    514 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916027
 protein coding gene Chr4:117109148-117125785 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028649
 protein coding gene Chr4:118222510-118241963 (+)
A/J MGP_AJ_G0028610
 protein coding gene Chr4:113657876-113673957 (+)
AKR/J MGP_AKRJ_G0028560
 protein coding gene Chr4:116143115-116163744 (+)
BALB/cJ MGP_BALBcJ_G0028631
 protein coding gene Chr4:114288538-114306006 (+)
C3H/HeJ MGP_C3HHeJ_G0028345
 protein coding gene Chr4:117730780-117754827 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029072
 protein coding gene Chr4:122783835-122811436 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026356
 protein coding gene Chr4:107701062-107716677 (+)
CAST/EiJ MGP_CASTEiJ_G0027779
 protein coding gene Chr4:114932436-114952756 (+)
CBA/J MGP_CBAJ_G0028312
 protein coding gene Chr4:126145378-126163887 (+)
DBA/2J MGP_DBA2J_G0028460
 protein coding gene Chr4:114292397-114308230 (+)
FVB/NJ MGP_FVBNJ_G0028428
 protein coding gene Chr4:112799121-112815897 (+)
LP/J MGP_LPJ_G0028562
 protein coding gene Chr4:118400574-118417763 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028455
 protein coding gene Chr4:131087797-131108052 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029109
 protein coding gene Chr4:117296713-117314782 (+)
PWK/PhJ MGP_PWKPhJ_G0027505
 protein coding gene Chr4:111099460-111116002 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027328
 protein coding gene Chr4:113614646-113632467 (+)
WSB/EiJ MGP_WSBEiJ_G0027858
 protein coding gene Chr4:117175771-117196195 (+)



Homology
more
  • Human Ortholog
    TMEM53, transmembrane protein 53
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TMEM53, transmembrane protein 53
  • Synonyms
    CTDI, NET4
  • Links
    NCBI Gene ID: 79639
    neXtProt AC: NX_Q6P2H8
    UniProt: Q6P2H8

  • Chr Location
    1p34.1; chr1:44635238-44674481 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tmem53 mouse models; 1 with human TMEM53 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 3 alleles in 1 genetic background
    11 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    4
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    712
  • Tissues
    6
  • cDNA Data
    35
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048772 Ensembl Gene Model | MGI Sequence Detail 16632 C57BL/6J ±  kb
    transcript ENSMUST00000106434 Ensembl | MGI Sequence Detail 923 Not Applicable  
    polypeptide ENSMUSP00000102042 Ensembl | MGI Sequence Detail 283 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      cDNA 35
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1916223, MGI:1923634
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 4
      Phenotypes 11
    • 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:306057 Guo L, et al., Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nat Commun. 2021 Apr 6;12(1):2046
    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)
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    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