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

Gene ID: 278279, updated on 20-Apr-2024

Summary

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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 mannosyltransferase activity. Predicted to be involved in calcium ion homeostasis and protein O-linked mannosylation. Predicted to be located 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, Apr 2022]
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

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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_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40753 Neighboring gene predicted gene, 25422 Neighboring gene predicted gene, 46241 Neighboring gene keratin 19 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr10:105012433-105012734 Neighboring gene predicted gene 15663 Neighboring gene STARR-seq mESC enhancer starr_27763 Neighboring gene STARR-seq mESC enhancer starr_27765 Neighboring gene methyltransferase like 25 Neighboring gene STARR-positive B cell enhancer ABC_E9803

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
  2. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
  3. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
  5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Homology

Clone Names

  • MGC116613

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in calcium ion homeostasis ISO
Inferred from Sequence Orthology
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
  
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 membrane IEA
Inferred from Electronic Annotation
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

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)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    105023524..105410340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_004936193.1 RNA Sequence

  2. XR_004936194.1 RNA Sequence

  3. XR_004936195.1 RNA Sequence

  4. XR_380404.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q56A06.1 GenPept UniProtKB/Swiss-Prot:Q56A06

Gene LinkOut

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