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

Gene ID: 68875, updated on 5-Mar-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

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