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Tafazzin Gene Detail
Summary
  • Symbol
    Tafazzin
  • Name
    tafazzin, phospholipid-lysophospholipid transacylase
  • Synonyms
    5031411C02Rik, 9130012G04Rik, G4.5, Taz
  • Feature Type
    protein coding gene
  • IDs
    MGI:109626
    NCBI Gene: 66826
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:73325518-73333757 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.95 cM, cytoband C1-C3
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    42 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109626
 protein coding gene ChrX:73325498-73340182 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035838
 protein coding gene ChrX:70079651-70087890 (+)
A/J MGP_AJ_G0035819
 protein coding gene ChrX:70265908-70274258 (+)
AKR/J MGP_AKRJ_G0035744
 protein coding gene ChrX:72167676-72175915 (+)
BALB/cJ MGP_BALBcJ_G0035804
 protein coding gene ChrX:69291216-69299455 (+)
C3H/HeJ MGP_C3HHeJ_G0035509
 protein coding gene ChrX:70555483-70563722 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036334
 protein coding gene ChrX:72241122-72249361 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033178
 protein coding gene ChrX:69331447-69339867 (+)
CAST/EiJ MGP_CASTEiJ_G0034800
 protein coding gene ChrX:55935101-55943974 (+)
CBA/J MGP_CBAJ_G0035484
 protein coding gene ChrX:74235699-74243938 (+)
DBA/2J MGP_DBA2J_G0035641
 protein coding gene ChrX:69725440-69733679 (+)
FVB/NJ MGP_FVBNJ_G0035585
 protein coding gene ChrX:69068915-69077154 (+)
LP/J MGP_LPJ_G0035726
 protein coding gene ChrX:70860619-70868858 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035623
 protein coding gene ChrX:76801701-76810143 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036356
 protein coding gene ChrX:69897904-69906143 (+)
PWK/PhJ MGP_PWKPhJ_G0034499
 protein coding gene ChrX:53896831-53905095 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034333
 protein coding gene ChrX:56805472-56813771 (+)
WSB/EiJ MGP_WSBEiJ_G0034941
 protein coding gene ChrX:69180503-69188945 (+)



Homology
more
  • Human Ortholog
    TAFAZZIN, tafazzin, phospholipid-lysophospholipid transacylase
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TAFAZZIN, tafazzin, phospholipid-lysophospholipid transacylase
  • Synonyms
    BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, TAZ, Taz1
  • Links
    NCBI Gene ID: 6901
    neXtProt AC: NX_Q16635
    UniProt: Q16635

  • Chr Location
    Xq28; chrX:154411524-154421726 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Tafazzin mouse models; 2 with human TAFAZZIN associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 2 alleles in 2 genetic backgrounds
    54 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 knock-out allele exhibit male infertility with small testes, azoospermia and abnormal spermatogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • 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
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
    804
  • Tissues
    95
  • cDNA Data
    16
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000009995 Ensembl Gene Model | MGI Sequence Detail 8240 C57BL/6J ±  kb
    transcript ENSMUST00000114180 Ensembl | MGI Sequence Detail 1786 Not Applicable  
    polypeptide ENSMUSP00000109818 Ensembl | MGI Sequence Detail 263 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      Genomic 6
      cDNA 17
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-39625, MGI:1914076, MGI:1926060, MGI:2147995, MGI:2148024
    References
    more
    • Summaries
      All 95
      Developmental Gene Expression 5
      Diseases 3
      Gene Ontology 8
      Phenotypes 54
    • Earliest
      J:26634 Rivella S, et al., A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics. 1995 Aug 10;28(3):377-82
    • Latest
      J:340565 Schweitzer GG, et al., Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome. PLoS One. 2023;18(8):e0290832
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory