TMTC2 (Entrez ID: 160335)

Entrez Gene ID	160335
Official Gene Symbol	TMTC2 (GeneCards)
Full name	transmembrane and tetratricopeptide repeat containing 2
Location	12q21.31
Other ids	Vega : OTTHUMG00000169736 MIM : 615856 HGNC : HGNC:25440 Ensembl : ENSG00000179104
Other names	IBDBP1
Summary	The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Variants

Found 27 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
16059	160335	TMTC2	12	84244905	84244905	Asymptomatic	HiSeq X Ten
16235	160335	TMTC2	12	83811971	83811971	Asymptomatic	HiSeq X Ten
16263	160335	TMTC2	12	84077735	84077735	Asymptomatic	HiSeq X Ten
16316	160335	TMTC2	12	83847835	83847835	Asymptomatic	HiSeq X Ten
16380	160335	TMTC2	12	84048926	84048926	Asymptomatic	HiSeq X Ten
16396	160335	TMTC2	12	84265796	84265796	Asymptomatic	HiSeq X Ten
16444	160335	TMTC2	12	83991514	83991514	Asymptomatic	HiSeq X Ten
16475	160335	TMTC2	12	84492324	84492324	Asymptomatic	HiSeq X Ten
16490	160335	TMTC2	12	83858052	83858052	Asymptomatic	HiSeq X Ten
16557	160335	TMTC2	12	83513042	83513042	Asymptomatic	HiSeq X Ten
16627	160335	TMTC2	12	84499786	84499786	Asymptomatic	HiSeq X Ten
16628	160335	TMTC2	12	84823639	84823639	Asymptomatic	HiSeq X Ten
16636	160335	TMTC2	12	83704012	83704012	Asymptomatic	HiSeq X Ten
16753	160335	TMTC2	12	83603206	83603206	Asymptomatic	HiSeq X Ten
16805	160335	TMTC2	12	84927760	84927760	Asymptomatic	HiSeq X Ten
16806	160335	TMTC2	12	85013448	85013448	Asymptomatic	HiSeq X Ten
16960	160335	TMTC2	12	84756394	84756394	Cockayne syndrome	HiSeq X Ten
16987	160335	TMTC2	12	84900942	84900942	Cockayne syndrome	HiSeq X Ten
16993	160335	TMTC2	12	84969781	84969781	Cockayne syndrome	HiSeq X Ten
23638	160335	TMTC2	12	83606096	83606096	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27442	160335	TMTC2	12	84887385	84887385	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27536	160335	TMTC2	12	84697887	84697887	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27555	160335	TMTC2	12	84124833	84124833	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27556	160335	TMTC2	12	84956695	84956695	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27571	160335	TMTC2	12	85252175	85252175	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27603	160335	TMTC2	12	84715739	84715739	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27604	160335	TMTC2	12	84902504	84902504	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning