InnateDB Protein
|
IDBP-82989.7
|
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
|
ENSP00000335121
|
InnateDB Gene
|
IDBG-82983 (ITM2C)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR007084
BRICHOS domain
|
PFAM |
PF04089
|
PRINTS |
|
PIRSF |
|
SMART |
SM01039
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9NQX7
|
PhosphoSite |
PhosphoSite-Q9NQX7
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
81618
|
UniGene |
Hs.111577
|
RefSeq |
NP_001012532
|
HUGO |
HGNC:6175
|
OMIM |
609554
|
CCDS |
CCDS33396
|
HPRD |
17167
|
IMGT |
|
EMBL |
AB003629
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
EAW70936
|
|
|