InnateDB Protein
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IDBP-293163.6
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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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TMEM237
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Protein Name
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transmembrane protein 237
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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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ENSP00000387203
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InnateDB Gene
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IDBG-78719 (TMEM237)
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Protein Structure
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Function |
Component of the transition zone in primary cilia. Required for ciliogenesis. {ECO:0000269PubMed:22152675}.
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000269PubMed:22152675}. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.
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Disease Associations |
Joubert syndrome 14 (JBTS14) [MIM:614424]: An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly. {ECO:0000269PubMed:22152675}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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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 |
Q96Q45
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PhosphoSite |
PhosphoSite-Q96Q45
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TrEMBL |
A0A024R422
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UniProt Splice Variant |
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Entrez Gene |
65062
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UniGene |
Hs.12319
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RefSeq |
NP_689601
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HUGO |
HGNC:14432
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OMIM |
614423
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CCDS |
CCDS46490
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HPRD |
12448
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IMGT |
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EMBL |
AB053301
AC007279
AC007282
AK090601
AK303954
AK304395
BC013730
BC029611
BX538000
CH471063
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GenPept |
AAH13730
AAH29611
AAY14694
AAY15056
BAB69011
BAC03487
BAG64880
BAG65230
CAD97955
EAW70281
EAW70283
EAW70284
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