InnateDB Protein
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IDBP-40833.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TMEM132E
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Protein Name
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transmembrane protein 132E
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000316532
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InnateDB Gene
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IDBG-40831 (TMEM132E)
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Protein Structure
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Function |
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
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Disease Associations |
Note=TMEM132E is located in a region involved in a heterozygous deletion of approximately 4.7 Mb; this deletion, involving the NF1 gene and contiguous genes lying in its flanking regions, is observed in a patient 17q11.2 microdeletion syndrome, a syndrome characterized by variable facial dysmorphism, mental retardation, developmental delay, and an excessive number of neurofibromas. {ECO:0000269PubMed:14569139}.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6IEE7
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PhosphoSite |
PhosphoSite-Q6IEE7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
124842
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UniGene |
Hs.310482
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RefSeq |
NP_997196
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HUGO |
HGNC:26991
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OMIM |
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CCDS |
CCDS11283
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HPRD |
14030
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IMGT |
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EMBL |
AC005691
BC018318
BC020591
BN000149
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GenPept |
AAH18318
AAH20591
CAD80169
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