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    TMEM106C transmembrane protein 106C [ Homo sapiens (human) ]

    Gene ID: 79022, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM106Cprovided by HGNC
    Official Full Name
    transmembrane protein 106Cprovided by HGNC
    Primary source
    HGNC:HGNC:28775
    See related
    Ensembl:ENSG00000134291 AllianceGenome:HGNC:28775
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in colon (RPKM 50.8), small intestine (RPKM 47.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM106C in Genome Data Viewer
    Location:
    12q13.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (47963596..47968878)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (47925384..47930668)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48357379..48362661)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6269 Neighboring gene long intergenic non-protein coding RNA 2354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48236992-48237565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48237566-48238138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48239663-48240164 Neighboring gene vitamin D receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48262276-48262776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48276324-48276836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48329073-48329573 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:48353651-48354181 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:48367908-48368120 Neighboring gene uncharacterized LOC105369752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48375074-48375619 Neighboring gene collagen type II alpha 1 chain Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48404129-48404630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48404631-48405130 Neighboring gene uncharacterized LOC105369750 Neighboring gene uncharacterized LOC124902927 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:48415301-48416292

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Transmembrane protein 106C promotes the development of hepatocellular carcinoma. Luo X, et al. J Cell Biochem, 2020 Nov. PMID 32037603
    2. LINC00238 inhibits hepatic carcinoma progression by activating TMEM106C‑mediated apoptosis pathway. Jiang C, et al. Mol Med Rep, 2021 Nov. PMID 34476506, Free PMC Article
    3. TMEM106C contributes to the malignant characteristics and poor prognosis of hepatocellular carcinoma. Duan J, et al. Aging (Albany NY), 2021 Feb 11. PMID 33591950, Free PMC Article
    4. Comparative analysis of virus-host interactomes with a mammalian high-throughput protein complementation assay based on Gaussia princeps luciferase. Neveu G, et al. Methods, 2012 Dec. PMID 22898364, Free PMC Article
    5. C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy. Yan BR, et al. Autophagy, 2022 Apr. PMID 34432599, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LINC00238 inhibits hepatic carcinoma progression by activating TMEM106Cmediated apoptosis pathway.
      Title: LINC00238 inhibits hepatic carcinoma progression by activating TMEM106C‑mediated apoptosis pathway.
    2. Transmembrane protein 106C promotes the development of hepatocellular carcinoma.
      Title: Transmembrane protein 106C promotes the development of hepatocellular carcinoma.
    3. TMEM106C contributes to the malignant characteristics and poor prognosis of hepatocellular carcinoma.
      Title: TMEM106C contributes to the malignant characteristics and poor prognosis of hepatocellular carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5576, MGC111210

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 106C
    Names
    endoplasmic reticulum membrane protein overexpressed in cancer

    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_001143841.2 → NP_001137313.1  transmembrane protein 106C isoform b

      See identical proteins and their annotated locations for NP_001137313.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 3' end of a coding exon and differs in the 5' UTR compared to variant 1. The resulting isoform (b) lacks a 19 aa internal segment compared to isoform a. Variants 3 and 4 both encode isoform b.
      Source sequence(s)
      BC000854, BQ227924, DA571733
      Consensus CDS
      CCDS44867.1
      UniProtKB/Swiss-Prot
      Q9BVX2
      Related
      ENSP00000256686.6, ENST00000256686.10
      Conserved Domains (1) summary
      pfam07092
      Location:19 → 229
      DUF1356; Protein of unknown function (DUF1356)

    2. NM_001143842.2 → NP_001137314.1  transmembrane protein 106C isoform a

      See identical proteins and their annotated locations for NP_001137314.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      BC000854, CN256547, CX763149, DA571733
      Consensus CDS
      CCDS8758.1
      UniProtKB/Swiss-Prot
      B2R998, B7Z5M4, Q3B761, Q9BVX2
      Related
      ENSP00000400471.2, ENST00000429772.7
      Conserved Domains (1) summary
      pfam07092
      Location:19 → 248
      DUF1356; Protein of unknown function (DUF1356)

    3. NM_001143843.2 → NP_001137315.1  transmembrane protein 106C isoform b

      See identical proteins and their annotated locations for NP_001137315.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of a coding exon compared to variant 1. The resulting isoform (b) lacks a 19 aa internal segment compared to isoform a. Variants 3 and 4 both encode isoform b.
      Source sequence(s)
      BC000854, CX763149, DA571733
      Consensus CDS
      CCDS44867.1
      UniProtKB/Swiss-Prot
      Q9BVX2
      Related
      ENSP00000402705.2, ENST00000449758.6
      Conserved Domains (1) summary
      pfam07092
      Location:19 → 229
      DUF1356; Protein of unknown function (DUF1356)

    4. NM_024056.4 → NP_076961.1  transmembrane protein 106C isoform a

      See identical proteins and their annotated locations for NP_076961.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AK313698, BC000854, DA571733
      Consensus CDS
      CCDS8758.1
      UniProtKB/Swiss-Prot
      B2R998, B7Z5M4, Q3B761, Q9BVX2
      Related
      ENSP00000446657.1, ENST00000552561.5
      Conserved Domains (1) summary
      pfam07092
      Location:19 → 248
      DUF1356; Protein of unknown function (DUF1356)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      47963596..47968878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449182.2 → XP_024304950.1  transmembrane protein 106C isoform X1

      UniProtKB/Swiss-Prot
      B2R998, B7Z5M4, Q3B761, Q9BVX2
      Conserved Domains (1) summary
      pfam07092
      Location:19 → 248
      DUF1356; Protein of unknown function (DUF1356)

    2. XM_024449183.2 → XP_024304951.1  transmembrane protein 106C isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      47925384..47930668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373195.1 → XP_054229170.1  transmembrane protein 106C isoform X1

    2. XM_054373196.1 → XP_054229171.1  transmembrane protein 106C isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001143844.1: Suppressed sequence

      Description
      NM_001143844.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_001143845.1: Suppressed sequence

      Description
      NM_001143845.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVX2.1 GenPept UniProtKB/Swiss-Prot:Q9BVX2

    Gene LinkOut

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

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