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Ghitm Gene Detail
Summary
  • Symbol
    Ghitm
  • Name
    growth hormone inducible transmembrane protein
  • Synonyms
    1010001P14Rik, C77840, PTD010, Tmbim5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913342
    NCBI Gene: 66092
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:36842401-36857279 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 21.29 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    484 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913342
 protein coding gene Chr14:36842049-36857279 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021189
 protein coding gene Chr14:30622061-30637081 (-)
A/J MGP_AJ_G0021137
 protein coding gene Chr14:29357786-29372664 (-)
AKR/J MGP_AKRJ_G0021114
 protein coding gene Chr14:30695143-30710021 (-)
BALB/cJ MGP_BALBcJ_G0021141
 protein coding gene Chr14:29588938-29603816 (-)
C3H/HeJ MGP_C3HHeJ_G0020924
 protein coding gene Chr14:30579067-30592959 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021573
 protein coding gene Chr14:31718760-31736020 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019135
 protein coding gene Chr14:29339745-29354570 (-)
CAST/EiJ MGP_CASTEiJ_G0020449
 protein coding gene Chr14:30463274-30480584 (-)
CBA/J MGP_CBAJ_G0020890
 protein coding gene Chr14:32904770-32919648 (-)
DBA/2J MGP_DBA2J_G0021013
 protein coding gene Chr14:29396595-29411473 (-)
FVB/NJ MGP_FVBNJ_G0020997
 protein coding gene Chr14:29373677-29388555 (-)
LP/J MGP_LPJ_G0021082
 protein coding gene Chr14:30916284-30934036 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021023
 protein coding gene Chr14:32104331-32119210 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021606
 protein coding gene Chr14:30556605-30571625 (-)
PWK/PhJ MGP_PWKPhJ_G0020197
 protein coding gene Chr14:28942353-28959535 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020021
 protein coding gene Chr14:30112600-30132231 (-)
WSB/EiJ MGP_WSBEiJ_G0020504
 protein coding gene Chr14:30581771-30598664 (-)



Homology
more
  • Human Ortholog
    GHITM, growth hormone inducible transmembrane protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GHITM, growth hormone inducible transmembrane protein
  • Synonyms
    DERP2, HSPC282, MICS1, My021, PTD010, TMBIM5
  • Links
    NCBI Gene ID: 27069
    neXtProt AC: NX_Q9H3K2
    UniProt: Q9H3K2

  • Chr Location
    10q23.1; chr10:84139482-84154841 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    7 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 an amino acid substitution exhibit partial lethality throughout fetal growth and development, decreased grip strength, and impaired mitochondria function in skeletal muscle and hepatocytes.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    9
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
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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
    887
  • Tissues
    121
  • cDNA Data
    26
  • Literature Summary
    4
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 66092 NCBI Gene Model | MGI Sequence Detail 14879 C57BL/6J ±  kb
transcript NM_001359902 RefSeq | MGI Sequence Detail 3260 ZRU/MplStud  
polypeptide Q91VC9 UniProt | EBI | MGI Sequence Detail 346 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 28
    cDNA 26
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGI:1353610
References
more
  • Summaries
    All 42
    Developmental Gene Expression 4
    Gene Ontology 9
    Phenotypes 7
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:327550 Zhang L, et al., TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy. Life Sci Alliance. 2022 Oct;5(10):e202201478
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
12/10/2024
MGI 6.24 		The Jackson Laboratory