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

Gene ID: 79022, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in colon (RPKM 50.8), small intestine (RPKM 47.7) and 25 other tissues See more
Orthologs
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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 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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
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

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