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Tmtc4 Gene Detail
Summary
  • Symbol
    Tmtc4
  • Name
    transmembrane and tetratricopeptide repeat containing 4
  • Synonyms
    4930403J22Rik, 5730419O14Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921050
    NCBI Gene: 70551
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:123156383-123220697 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 66.04 cM, cytoband E5
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1468 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921050
 protein coding gene Chr14:123156383-123221447 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021676
 protein coding gene Chr14:120836926-120905158 (-)
A/J MGP_AJ_G0021636
 protein coding gene Chr14:116162104-116232578 (-)
AKR/J MGP_AKRJ_G0021612
 protein coding gene Chr14:119910612-119977360 (-)
BALB/cJ MGP_BALBcJ_G0021642
 protein coding gene Chr14:116708718-116773226 (-)
C3H/HeJ MGP_C3HHeJ_G0021419
 protein coding gene Chr14:119809189-119873553 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022082
 protein coding gene Chr14:125487555-125557074 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019620
 protein coding gene Chr14:111977538-112041171 (-)
CAST/EiJ MGP_CASTEiJ_G0020935
 protein coding gene Chr14:117701547-117767794 (-)
CBA/J MGP_CBAJ_G0021388
 protein coding gene Chr14:130250620-130324170 (-)
DBA/2J MGP_DBA2J_G0021511
 protein coding gene Chr14:116012208-116076399 (-)
FVB/NJ MGP_FVBNJ_G0021489
 protein coding gene Chr14:114366983-114431673 (-)
LP/J MGP_LPJ_G0021579
 protein coding gene Chr14:121743104-121809321 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021516
 protein coding gene Chr14:135222633-135289483 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022105
 protein coding gene Chr14:119495384-119562613 (-)
PWK/PhJ MGP_PWKPhJ_G0020679
 protein coding gene Chr14:113062922-113129443 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020517
 protein coding gene Chr14:115683310-115755418 (-)
WSB/EiJ MGP_WSBEiJ_G0020991
 protein coding gene Chr14:120182714-120248643 (-)



Homology
more
  • Human Ortholog
    TMTC4, transmembrane O-mannosyltransferase targeting cadherins 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TMTC4, transmembrane O-mannosyltransferase targeting cadherins 4
  • Synonyms
    DFNB122
  • Links
    NCBI Gene ID: 84899
    neXtProt AC: NX_Q5T4D3
    UniProt: Q5T4D3

  • Chr Location
    13q32.3; chr13:100603625-100675093 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TMTC4 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
    21 phenotypes from 2 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    6 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 early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    5
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
    768
  • Tissues
    31
  • cDNA Data
    44
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 70551 NCBI Gene Model | MGI Sequence Detail 64315 C57BL/6J ±  kb
    transcript NM_001360598 RefSeq | MGI Sequence Detail 3631 C57BL/6  
    polypeptide Q8BG19 UniProt | EBI | MGI Sequence Detail 741 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      cDNA 46
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1917801
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 3
      Gene Ontology 5
      Phenotypes 6
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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