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Tnnc1 Gene Detail
Summary
  • Symbol
    Tnnc1
  • Name
    troponin C, cardiac/slow skeletal
  • Synonyms
    cTnC, TnC
  • Feature Type
    protein coding gene
  • IDs
    MGI:98779
    NCBI Gene: 21924
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:30930274-30933671 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 19.09 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    150 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98779
 protein coding gene Chr14:30930269-30933686 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021122
 protein coding gene Chr14:24382287-24386719 (+)
A/J MGP_AJ_G0021070
 protein coding gene Chr14:23462077-23465415 (+)
AKR/J MGP_AKRJ_G0021047
 protein coding gene Chr14:24586043-24589394 (+)
BALB/cJ MGP_BALBcJ_G0021074
 protein coding gene Chr14:23584153-23587677 (+)
C3H/HeJ MGP_C3HHeJ_G0020857
 protein coding gene Chr14:24453419-24458795 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021506
 protein coding gene Chr14:25351484-25354838 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019069
 protein coding gene Chr14:23526704-23530371 (+)
CAST/EiJ MGP_CASTEiJ_G0020382
 protein coding gene Chr14:24219470-24222826 (+)
CBA/J MGP_CBAJ_G0020824
 protein coding gene Chr14:26324724-26328145 (+)
DBA/2J MGP_DBA2J_G0020946
 protein coding gene Chr14:23491863-23495280 (+)
FVB/NJ MGP_FVBNJ_G0020930
 protein coding gene Chr14:23453854-23457321 (+)
LP/J MGP_LPJ_G0021015
 protein coding gene Chr14:24709128-24712545 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020956
 protein coding gene Chr14:25588479-25591952 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021539
 protein coding gene Chr14:24347229-24350702 (+)
PWK/PhJ MGP_PWKPhJ_G0020130
 protein coding gene Chr14:22949123-22952654 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019954
 protein coding gene Chr14:23943090-23946483 (+)
WSB/EiJ MGP_WSBEiJ_G0020437
 protein coding gene Chr14:24408508-24413329 (+)



Homology
more
  • Human Ortholog
    TNNC1, troponin C1, slow skeletal and cardiac type
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TNNC1, troponin C1, slow skeletal and cardiac type
  • Synonyms
    CMD1Z, CMH13, TN-C, TNC, TNNC
  • Links
    NCBI Gene ID: 7134
    neXtProt AC: NX_P63316
    UniProt: P63316

  • Chr Location
    3p21.1; chr3:52451100-52454041 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tnnc1 mouse models; 3 with human TNNC1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    33 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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 the p.Ala8Val mutation develop hypertrophic cardiomyopathy with cardiac interstitial fibrosis, myofibrillar disarray, enlarged left atrium, diastolic dysfunction and enhanced systolic function. Aged females show anxiety- and depression-like behaviors and adrenal gland hypertrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    38
  • 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 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
    930
  • Tissues
    127
  • cDNA Data
    87
  • Literature Summary
    35
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21924 NCBI Gene Model | MGI Sequence Detail 3398 C57BL/6J ±  kb
    transcript NM_009393 RefSeq | MGI Sequence Detail 701 ZRU/MplStud  
    polypeptide P19123 UniProt | EBI | MGI Sequence Detail 161 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 94
      Genomic 1
      cDNA 87
      Primer pair 5
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15149, MGI:2145705
    References
    more
    • Summaries
      All 89
      Developmental Gene Expression 35
      Diseases 2
      Gene Ontology 8
      Phenotypes 14
    • Earliest
      J:9901 Parmacek MS, et al., Structure and expression of the murine slow/cardiac troponin C gene. J Biol Chem. 1989 Aug 5;264(22):13217-25
    • Latest
      J:346063 Rehmani T, et al., Deletion of Sarcolemmal Membrane-Associated Protein Isoform 3 (SLMAP3) in Cardiac Progenitors Delays Embryonic Growth of Myocardium without Affecting Hippo Pathway. Int J Mol Sci. 2024 Mar 1;25(5)
    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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    11/12/2024
    MGI 6.24     		The Jackson Laboratory