Tmtc2 transmembrane and tetratricopeptide repeat containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmtc2provided by MGI
Official Full Name: transmembrane and tetratricopeptide repeat containing 2provided by MGI
Primary source: MGI:MGI:1914057
See related: Ensembl:ENSMUSG00000036019 AllianceGenome:MGI:1914057
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 8430438D04Rik; D330034A10Rik
Summary: Predicted to enable dolichyl-phosphate-mannose-protein mannosyltransferase activity. Predicted to be involved in calcium ion homeostasis and protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including cranial ganglion; gut; limb segment; musculoskeletal system; and sensory organ. Orthologous to human TMTC2 (transmembrane O-mannosyltransferase targeting cadherins 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 7.3), lung adult (RPKM 5.4) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D1; 10 54.72 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (105023524..105410340, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (105187663..105574479, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

General gene information

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Markers

MHAa97a11.seq (e-PCR)
- UniSTS:125449

AU047328 (e-PCR)
- UniSTS:110616

RH133880 (e-PCR)
- UniSTS:217163

D10Mit133 (e-PCR), detects polymorphism
- UniSTS:126033

D10Mit135 (e-PCR), detects polymorphism
- UniSTS:126035

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables mannosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein O-linked mannosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked mannosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked mannosylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein O-mannosyl-transferase TMTC2

Names: transmembrane O-mannosyltransferase targeting cadherins 2; transmembrane and TPR repeat-containing protein 2

NP_796342.2

EC 2.4.1.109

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_177368.4 → NP_796342.2 protein O-mannosyl-transferase TMTC2 precursor

See identical proteins and their annotated locations for NP_796342.2

Status: VALIDATED

Source sequence(s)

AK052344, BB652678, BC092226

Consensus CDS

CCDS24157.1

UniProtKB/Swiss-Prot

B2RRD8, Q56A06, Q5U620, Q8C787

Related

ENSMUSP00000061919.9, ENSMUST00000061506.9

Conserved Domains (8) summary

sd00006
Location:527 → 555

TPR; TPR repeat [structural motif]

pfam00515
Location:779 → 812

TPR_1; Tetratricopeptide repeat

pfam07719
Location:609 → 639

TPR_2; Tetratricopeptide repeat

pfam08409
Location:247 → 321

DUF1736; Domain of unknown function (DUF1736)

pfam12895
Location:618 → 703

ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3

pfam13414
Location:493 → 554

TPR_11; TPR repeat

pfam13424
Location:557 → 634

TPR_12; Tetratricopeptide repeat

pfam14559
Location:755 → 822

TPR_19; Tetratricopeptide repeat