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Mrtfa Gene Detail
Summary
  • Symbol
    Mrtfa
  • Name
    myocardin related transcription factor A
  • Synonyms
    Bsac, Mal, Mkl1, MRTF-A
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384495
    NCBI Gene: 223701
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:80896482-81074937 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 37.98 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3932 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384495
 protein coding gene Chr15:80896482-81074958 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022107
 protein coding gene Chr15:81413703-81594794 (-)
A/J MGP_AJ_G0022068
 protein coding gene Chr15:78558982-78736769 (-)
AKR/J MGP_AKRJ_G0022043
 protein coding gene Chr15:80751914-80931252 (-)
BALB/cJ MGP_BALBcJ_G0022074
 protein coding gene Chr15:78569604-78761237 (-)
C3H/HeJ MGP_C3HHeJ_G0021845
 protein coding gene Chr15:80740776-80920464 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022517
 protein coding gene Chr15:84595774-84781606 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020047
 protein coding gene Chr15:75035449-75204258 (-)
CAST/EiJ MGP_CASTEiJ_G0021366
 protein coding gene Chr15:81489786-81671548 (-)
CBA/J MGP_CBAJ_G0021810
 protein coding gene Chr15:87251549-87452131 (-)
DBA/2J MGP_DBA2J_G0021939
 protein coding gene Chr15:78048922-78220910 (-)
FVB/NJ MGP_FVBNJ_G0021917
 protein coding gene Chr15:77085116-77258959 (-)
LP/J MGP_LPJ_G0022007
 protein coding gene Chr15:81571708-81755721 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021937
 protein coding gene Chr15:92234006-92427268 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022531
 protein coding gene Chr15:80804116-80985339 (-)
PWK/PhJ MGP_PWKPhJ_G0021108
 protein coding gene Chr15:78068729-78243040 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020945
 protein coding gene Chr15:80596739-80781416 (-)
WSB/EiJ MGP_WSBEiJ_G0021418
 protein coding gene Chr15:81208851-81395031 (-)



Homology
more
  • Human Ortholog
    MRTFA, myocardin related transcription factor A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MRTFA, myocardin related transcription factor A
  • Synonyms
    BSAC, MAL, MKL, MKL1, MRTF-A
  • Links
    NCBI Gene ID: 57591
    neXtProt AC: NX_Q969V6
    UniProt: Q969V6

  • Chr Location
    22q13.1-q13.2; chr22:40410281-40636719 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human MRTFA associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    23 phenotypes from multigenic genotypes
    1 images
    63 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 null allele exhibit impaired mammary myoepithelial cell differentiation and fail to eject milk and productively nurse their offspring. Mice homozygous for another null allele show partial embryonic lethality caused by myocardial necrosis as well as mammary gland dysfunction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    40
  • GO References
    16
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
    799
  • Tissues
    52
  • cDNA Data
    63
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 223701 NCBI Gene Model | MGI Sequence Detail 178456 C57BL/6J ±  kb
    transcript NM_001082536 RefSeq | MGI Sequence Detail 4345 C57BL/6  
    polypeptide Q8K4J6 UniProt | EBI | MGI Sequence Detail 964 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 68
      cDNA 63
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146091, MGI:2146249, MGI:2146251, MGI:6209745
    References
    more
    • Summaries
      All 148
      Developmental Gene Expression 15
      Diseases 1
      Gene Ontology 16
      Phenotypes 63
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:351187 Khudayberdiev S, et al., The actin-binding protein CAP1 represses MRTF-SRF-dependent gene expression in mouse cerebral cortex. Sci Signal. 2024 May 7;17(835):eadj0032
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory