TMTC2 - transmembrane O-mannosyltransferase targeting cadherins 2 Gene

Homo sapiens

Also known as IBDBP1

Gene ID: 160335 | Gene type: protein coding

About TMTC2

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:82,686,906-83,134,866 (from NCBI)

This gene has 5 transcripts (splice variants), 288 orthologues and 14 paralogues. Ubiquitous expression in brain (RPKM 7.5), gall bladder (RPKM 7.0) and 24 other tissues.

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]

TMTC2 Products(3)

mRNA	Protein	Name
NM_001320321.2	NP_001307250.1	protein O-mannosyl-transferase TMTC2 isoform 2
NM_001320322.2	NP_001307251.1	protein O-mannosyl-transferase TMTC2 isoform 3 precursor
NM_152588.3	NP_689801.1	protein O-mannosyl-transferase TMTC2 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IMP IMP: Inferred from mutant phenotype	28973932	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24764305	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	24764305	GOA
involved in protein O-linked mannosylation	IMP IMP: Inferred from mutant phenotype	28973932	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	24764305	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMTC2 Protein Structure

PMT_2

DUF1736

TPR_11

TPR_12

TPR_2

TPR_11

0
200
400
600
836 a.a.

Protein Preferred Names

Protein Names

protein O-mannosyl-transferase TMTC2

transmembrane and TPR repeat-containing protein 2

Related Diseases

Diseases

Alias

Epilepsy, Familial Temporal Lobe, 5

Familial Temporal Lobe Epilepsy 5	ETL5
Epilepsy, Temporal Lobe, Familial, Type 5

Arteritic Anterior Ischemic Optic Neuropathy

Auditory Neuropathy, Autosomal Dominant 1

Autosomal Dominant Auditory Neuropathy 1	AUNA1
Nsdan	Auditory Neuropathy, Autosomal Dominant, 1
Auditory Neuropathy, Nonsyndromic Dominant	Nonsyndromic Dominant Auditory Neuropathy
Nonsyndromic Auditory Neuropathy Autosomal Dominant

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Glaucoma, Normal Tension

Low Tension Glaucoma	Glaucoma, Normal Tension, Susceptibility To
Normal Tension Glaucoma	Ntg
Glaucoma, Normal Pressure	NPG
Glaucoma, Normal Pressure, Susceptibility To	Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14777	TMTC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TMTC2	VGNC	VGNC:58451
Mus musculus	TMTC2	MGD	MGI:1914057
Canis familiaris	TMTC2	VGNC	VGNC:47639
Macaca mulatta	TMTC2	VGNC	VGNC:79495
Rattus norvegicus	TMTC2	RGD	RGD:1309848

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