Version: 8.0.0
Date: Tue Jan 28 2025
FITM2
Homo sapiensHGNC:16135
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

FITM2

Species
Homo sapiens
Symbol
FITM2
Name
fat storage inducing transmembrane protein 2
Synonyms
  • acyl-coenzyme A diphosphatase FITM2
  • C20orf142
Biotype
protein coding gene
Automated Description
Enables coenzyme A diphosphatase activity. Involved in several processes, including fatty-acyl-CoA catabolic process; lipid droplet formation; and lipid homeostasis. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in Siddiqi syndrome.
RGD Description
Enables coenzyme A diphosphatase activity. Involved in several processes, including fatty-acyl-CoA catabolic process; lipid droplet formation; and lipid homeostasis. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in Siddiqi syndrome. [provided by Alliance of Genome Resources, Nov 2024]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23129
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusFitm210 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Rattus norvegicusFitm210 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Xenopus laevisfitm2.L1 of 1YesYes          ☑ 
Xenopus laevisfitm2.S1 of 1YesYes          ☑ 
Xenopus tropicalisfitm29 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Danio reriofitm210 of 10YesYes☑ ☑☑☑☑☑☑☑☑ ☑
Drosophila melanogasterFitm7 of 9YesYes☑ ☑☑☐☑☑☑☐☑  
Caenorhabditis elegansfitm-28 of 9YesYes☑ ☑☑☑☑☑☑☑☐  
Saccharomyces cerevisiaeSCS34 of 9YesYes☑ ☑☐☐☑☐☑☐☐  
Saccharomyces cerevisiaeYFT24 of 9YesYes☑ ☐☐☐☑☐☑☑☐  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
FITM1124651366 of 8☑ ☑☐☑☑☑☑☐ 

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Autosomal recessive inheritance
Delayed ability to walk
Developmental regression
Flexion contracture
Global developmental delay
Ichthyosis
Limb dystonia
Lower limb amyotrophy
Motor delay
Pes cavus
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
No records match query. Try removing filters.
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    Alleles and Variants

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000020.11:g.44307224C>Avariant
    SNP
    • missense variant
    NC_000020.11:g.44310786T>Gvariant
    SNP
    • intron variant
    NC_000020.11:g.44311099C>Tvariant
    SNP
    • missense variant
    NC_000020.11:g.44311148T>Cvariant
    SNP
    • start lost
    NC_000020.11:g.44307214C>Tvariant
    SNP
    • stop gained
    NC_000020.11:g.44311053C>Tvariant
    SNP
    • missense variant
    NC_000020.11:g.44306856G>Avariant
    SNP
    • synonymous variant
    NC_000020.11:g.44311003A>Tvariant
    SNP
    • missense variant
    NC_000020.11:g.44306641T>Cvariant
    SNP
    • missense variant
    NC_000020.11:g.44306494A>Gvariant
    SNP
    • 3 prime UTR variant
    Showing 1 - 10 of 30 rows
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    View detailed Alleles/Variants information
    Download all Alleles/Variants for all genes of the species

    Transgenic Alleles

    Species
    (carrying the transgene)
    Allele symbol
    Transgenic construct
    Expressed components
    Knock-down targets
    Regulatory regions
    Has Disease Annotations
    Has Phenotype Annotations
    Drosophila melanogasterHsap\FITM2UAS.cBa
    PBac{UAS-hFITM2.B}
    • UASt
    Showing 1 - 1 of 1 rows
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    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction

    Sequence Details

    Loading...

    Expression

    Primary Sources
    None
    Other Sources
    Must provide at least one subject
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    67 interactor genes based on 92 annotations
    FITM2 molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    protein
    		ADCY8Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		ADGRG5Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28514442
    protein
    		ADGRG5Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		AQP3Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		AVPR2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		BSCL2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		C3AR1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28514442
    protein
    		C3AR1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		C5AR1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		CACNG1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    Showing 1 - 10 of 91 rows
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    Genetic Interactions

    FITM2 role
    FITM2 genetic perturbation
    Interactor gene
    Interactor species
    Interactor role
    Interactor genetic perturbation
    Interaction type
    Phenotype or trait
    Source
    Reference
    unspecified role
    		FASNHomo sapiens
    unspecified role
    negative genetic interaction (sensu BioGRID)
    • viability
    • Growth abnormality
    		PMID:32694731
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