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    Tmcc2 transmembrane and coiled-coil domains 2 [ Mus musculus (house mouse) ]

    Gene ID: 68875, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Tmcc2provided by MGI
    Official Full Name
    transmembrane and coiled-coil domains 2provided by MGI
    Primary source
    MGI:MGI:1916125
    See related
    Ensembl:ENSMUSG00000042066 AllianceGenome:MGI:1916125
    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
    1110063G11Rik
    Summary
    Predicted to be involved in amyloid precursor protein metabolic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endomembrane system. Is expressed in liver. Orthologous to human TMCC2 (transmembrane and coiled-coil domain family 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver E14.5 (RPKM 143.8), liver E14 (RPKM 110.6) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 E4; 1 57.24 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (132284053..132319661, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (132356315..132391923, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene NUAK family, SNF1-like kinase, 2 Neighboring gene predicted gene, 30744 Neighboring gene VISTA enhancer mm505 Neighboring gene RIKEN cDNA F730311O21 gene Neighboring gene STARR-positive B cell enhancer ABC_E7749 Neighboring gene STARR-positive B cell enhancer ABC_E11087 Neighboring gene predicted gene, 57562 Neighboring gene dual serine/threonine and tyrosine protein kinase Neighboring gene RIKEN cDNA 6030442K20 gene

    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. Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death. Ren R, et al. Hum Mol Genet, 2023 May 5. PMID 36617157
    2. Ablation of Tmcc2 Gene Impairs Erythropoiesis in Mice. Kumari R, et al. Int J Mol Sci, 2022 May 9. PMID 35563652, Free PMC Article
    3. Sox6 is necessary for efficient erythropoiesis in adult mice under physiological and anemia-induced stress conditions. Dumitriu B, et al. PLoS One, 2010 Aug 9. PMID 20711497, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895
    5. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death.
      Title: Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death.
    2. Ablation of Tmcc2 Gene Impairs Erythropoiesis in Mice.
      Title: Ablation of Tmcc2 Gene Impairs Erythropoiesis in Mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0481

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in amyloid precursor protein metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in amyloid precursor protein metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum 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
    transmembrane and coiled-coil domains protein 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_001311107.1 → NP_001298036.1  transmembrane and coiled-coil domains protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001298036.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate first exon in place of the first exon of variant 1, which results in translation initiation at a downstream AUG. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC160545, BC052035, CX240566
      Consensus CDS
      CCDS78682.1
      UniProtKB/TrEMBL
      Q3TZY4
      Related
      ENSMUSP00000118844.2, ENSMUST00000132435.2
      Conserved Domains (1) summary
      pfam10267
      Location:208 → 614
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    2. NM_001311108.1 → NP_001298037.1  transmembrane and coiled-coil domains protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001298037.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in place of the first two exons compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK165309, BB841803, BC052035
      Consensus CDS
      CCDS78681.1
      UniProtKB/TrEMBL
      Q3T9T1, Q3TYQ4
      Related
      ENSMUSP00000115721.2, ENSMUST00000142609.8
      Conserved Domains (1) summary
      pfam10267
      Location:51 → 457
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    3. NM_178874.3 → NP_849205.1  transmembrane and coiled-coil domains protein 2 isoform 1

      See identical proteins and their annotated locations for NP_849205.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC052035, CA320803, CD354506
      Consensus CDS
      CCDS15284.1
      UniProtKB/Swiss-Prot
      Q6A061, Q80W04
      Related
      ENSMUSP00000038369.10, ENSMUST00000045473.16
      Conserved Domains (1) summary
      pfam10267
      Location:286 → 692
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      132284053..132319661 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006529852.4 → XP_006529915.1  transmembrane and coiled-coil domains protein 2 isoform X1

      Conserved Domains (1) summary
      pfam10267
      Location:283 → 603
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    2. XM_030242714.2 → XP_030098574.1  transmembrane and coiled-coil domains protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A5F8MQA9, Q3TYQ4
      Related
      ENSMUSP00000159152.2, ENSMUST00000136828.3
      Conserved Domains (1) summary
      pfam10267
      Location:101 → 510
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80W04.1 GenPept UniProtKB/Swiss-Prot:Q80W04

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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