Entity Details

Primary name FITM2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N6M3
EntryNameFITM2_HUMAN
FullNameAcyl-coenzyme A diphosphatase FITM2
TaxID9606
Evidenceevidence at protein level
Length262
SequenceStatuscomplete
DateCreated2003-02-01
DateModified2021-06-02

Ontological Relatives

GenesFITM2

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0007010 cytoskeleton organization
GO:0008654 phospholipid biosynthetic process
GO:0010866 regulation of triglyceride biosynthetic process
GO:0010890 positive regulation of sequestering of triglyceride
GO:0010945 CoA pyrophosphatase activity
GO:0017129 triglyceride binding
GO:0019915 lipid storage
GO:0019992 diacylglycerol binding
GO:0022604 regulation of cell morphogenesis
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030730 sequestering of triglyceride
GO:0034389 lipid droplet organization
GO:0035356 cellular triglyceride homeostasis
GO:0036115 fatty-acyl-CoA catabolic process
GO:0055088 lipid homeostasis
GO:0140042 lipid droplet formation

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR019388 Fat storage-inducing transmembrane proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
618635 OMIMSiddiqi syndrome (SIDDIS)An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
FITM2_HUMANHTAI2_HUMANBioGRID, IntAct32296183 details
FITM2_HUMANUNC50_HUMANBioGRID, IntAct32296183 details