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Tmem249 Gene Detail
Summary
  • Symbol
    Tmem249
  • Name
    transmembrane protein 249
  • Synonyms
    Catsperq, Catsper theta, Gm8140
  • Feature Type
    protein coding gene
  • IDs
    MGI:3647471
    NCBI Gene: 666504
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:76417411-76419197 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 36.03 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    8 from dbSNP Build 142
  • Strain Annotations
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3647471
 protein coding gene Chr15:76417411-76419566 (-)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    TMEM249, transmembrane protein 249
  • Vertebrate Orthologs
    1
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TMEM249, transmembrane protein 249
  • Synonyms
    C8ORFK29
  • Links
    NCBI Gene ID: 340393
    neXtProt AC: NX_Q2WGJ8
    UniProt: Q2WGJ8

  • Chr Location
    8q24.3; chr8:144352219-144354954 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    25 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.
Male mice homozygous for a null allele lack the entire CatSper calcium channel from their sperm flagella and are infertile due to defective sperm hyperactivation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    2
  • GO References
    1
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.
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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    • All Sequences
      13
    • RefSeq
      4
    • UniProt
      1
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 666504 NCBI Gene Model | MGI Sequence Detail 1787 C57BL/6J ±  kb
    transcript NM_001378247 RefSeq | MGI Sequence Detail 939 C57BL/6  
    polypeptide A0A2R8VHF7 UniProt | EBI | MGI Sequence Detail 171 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000031261 cation channel sperm-associated auxiliary subunit TMEM249
      (term hierarchy)
    • PDB
      7EEB
    • InterPro Domains
      IPR027861 Cation channel sperm-associated auxiliary subunit TMEM249
    Molecular
    Reagents
    less

    • Microarray probesets 3
    References
    more
    • Summaries
      All 38
      Diseases 1
      Gene Ontology 1
      Phenotypes 25
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:346400 Huang X, et al., A CUG-initiated CATSPERtheta functions in the CatSper channel assembly and serves as a checkpoint for flagellar trafficking. Proc Natl Acad Sci U S A. 2023 Sep 26;120(39):e2304409120
    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