Homo sapiens Protein: ITM2C
Summary
InnateDB Protein IDBP-82985.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ITM2C
Protein Name integral membrane protein 2C
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000322730
InnateDB Gene IDBG-82983 (ITM2C)
Protein Structure
UniProt Annotation
Function Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C- terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity). {ECO:0000250}.
Subcellular Localization Lysosome membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cell membrane {ECO:0000269PubMed:19114711}; Single-pass type II membrane protein {ECO:0000269PubMed:19114711}.
Disease Associations
Tissue Specificity High levels in the brain, specifically in the cerebral cortex, medulla, amygdala, hippocampus, thalamus, caudate nucleus, cerebellum, olfactory lobe and spinal cord. Very low levels in other organs. {ECO:0000269PubMed:11290423, ECO:0000269PubMed:15606899}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 7 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0005515 protein binding
GO:0005524 ATP binding
Biological Process
GO:0010977 negative regulation of neuron projection development
GO:0030182 neuron differentiation
GO:2001238 positive regulation of extrinsic apoptotic signaling pathway
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR007084 BRICHOS domain
PFAM PF04089
PRINTS
PIRSF
SMART SM01039
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NQX7
PhosphoSite PhosphoSite-Q9NQX7
TrEMBL F5H4I5
UniProt Splice Variant
Entrez Gene 81618
UniGene Hs.111577
RefSeq NP_112188
HUGO HGNC:6175
OMIM 609554
CCDS CCDS2479
HPRD 17167
IMGT
EMBL AB003629 AC012507 AF271781 AF272043 AK056321 AK075361 AK090975 AK222697 AL136603 AL713651 AY049777 BC002424 BC025742 BC050668 BC098563 CH471063 CR457208
GenPept AAF89492 AAG44792 AAH02424 AAH25742 AAH50668 AAH98563 AAL15434 BAB46927 BAC03562 BAC11570 BAD96417 BAG51676 CAB66538 CAD28460 CAG33489 EAW70934 EAW70936 EAW70937