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Tmem63a Gene Detail
Summary
  • Symbol
    Tmem63a
  • Name
    transmembrane protein 63a
  • Synonyms
    MGC:11687, MGC:25803
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384789
    NCBI Gene: 208795
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:180769909-180802677 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 84.46 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    432 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384789
 protein coding gene Chr1:180769899-180802677 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016879
 protein coding gene Chr1:187426541-187459222 (+)
A/J MGP_AJ_G0016858
 protein coding gene Chr1:179833262-179868304 (+)
AKR/J MGP_AKRJ_G0016824
 protein coding gene Chr1:185177827-185213952 (+)
BALB/cJ MGP_BALBcJ_G0016816
 protein coding gene Chr1:180456179-180489517 (+)
C3H/HeJ MGP_C3HHeJ_G0016641
 protein coding gene Chr1:185954473-185988198 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017279
 protein coding gene Chr1:193476384-193547334 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014987
 protein coding gene Chr1:170807482-170841456 (+)
CAST/EiJ MGP_CASTEiJ_G0016222
 protein coding gene Chr1:185296657-185333449 (+)
CBA/J MGP_CBAJ_G0016615
 protein coding gene Chr1:200647381-200679681 (+)
DBA/2J MGP_DBA2J_G0016721
 protein coding gene Chr1:178668316-178701781 (+)
FVB/NJ MGP_FVBNJ_G0016717
 protein coding gene Chr1:176768005-176801830 (+)
LP/J MGP_LPJ_G0016795
 protein coding gene Chr1:188676260-188709262 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016748
 protein coding gene Chr1:207811591-207846905 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017316
 protein coding gene Chr1:184956188-184992575 (+)
PWK/PhJ MGP_PWKPhJ_G0016010
 protein coding gene Chr1:177783330-177818365 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015786
 protein coding gene Chr1:183892815-183928881 (+)
WSB/EiJ MGP_WSBEiJ_G0016285
 protein coding gene Chr1:185159499-185195562 (+)



Homology
more
  • Human Ortholog
    TMEM63A, transmembrane protein 63A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TMEM63A, transmembrane protein 63A
  • Synonyms
    HLD19, KIAA0792
  • Links
    NCBI Gene ID: 9725
    neXtProt AC: NX_O94886
    UniProt: O94886

  • Chr Location
    1q42.12; chr1:225840556-225882380 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TMEM63A 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
    1 phenotype from 1 allele 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
    16
  • GO References
    9
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
    706
  • cDNA Data
    54
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000026519 Ensembl Gene Model | MGI Sequence Detail 32769 C57BL/6J ±  kb
transcript ENSMUST00000027800 Ensembl | MGI Sequence Detail 3306 Not Applicable  
polypeptide ENSMUSP00000027800 Ensembl | MGI Sequence Detail 804 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000030450 CSC1-like protein 1
    (term hierarchy)
  • InterPro Domains
    IPR045122 Calcium permeable stress-gated cation channel 1-like
    IPR003864 CSC1/OSCA1-like, 7TM region
    IPR027815 CSC1/OSCA1-like, cytosolic domain
    IPR032880 CSC1/OSCA1-like, N-terminal transmembrane domain
    IPR012677 Nucleotide-binding alpha-beta plait domain superfamily
    IPR035979 RNA-binding domain superfamily
Molecular
Reagents
less
  • All nucleic 54
    cDNA 54

    Microarray probesets 3
References
more
  • Summaries
    All 41
    Gene Ontology 9
    Phenotypes 11
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:346997 Chen GL, et al., Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion. J Clin Invest. 2024 Dec 21;134(5):e174508
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
04/16/2024
MGI 6.23 		The Jackson Laboratory