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    TMEM117 transmembrane protein 117 [ Homo sapiens (human) ]

    Gene ID: 84216, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TMEM117provided by HGNC
    Official Full Name
    transmembrane protein 117provided by HGNC
    Primary source
    HGNC:HGNC:25308
    See related
    Ensembl:ENSG00000139173 AllianceGenome:HGNC:25308
    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
    Involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 3.1), duodenum (RPKM 2.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM117 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (43795802..44399108)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (43754527..44357775)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44229884..44783541)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4372 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:44230125-44230357 Neighboring gene pseudouridine synthase 7 like Neighboring gene MPRA-validated peak1704 silencer Neighboring gene interleukin 1 receptor associated kinase 4 Neighboring gene NANOG hESC enhancer GRCh37_chr12:44293209-44293937 Neighboring gene MPRA-validated peak1705 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:44318495-44319694 Neighboring gene twinfilin actin binding protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:44373209-44373840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6220 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:44422790-44423989 Neighboring gene zinc finger protein 75B, pseudogene Neighboring gene IQ motif containing F1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44702016-44702516 Neighboring gene uncharacterized LOC124902922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6223 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:44860659-44860854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44896165-44896666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:44896667-44897166 Neighboring gene neural EGFL like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45270221-45270722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45270723-45271222 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6224 Neighboring gene uncharacterized LOC105369742 Neighboring gene developing brain homeobox 2

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that transmembrane protein 117 (TMEM117) probably mediates the signalling of mitochondrial membrane potential (DeltaPsim) loss in endoplasmic reticulum (ER) stress-mediated mitochondria cell death.
      Title: A novel transmembrane protein defines the endoplasmic reticulum stress-induced cell death pathway.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • DKFZp434K2435

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 117

    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_001286211.2 → NP_001273140.1  transmembrane protein 117 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      BC042192, DB477248
      Consensus CDS
      CCDS73462.1
      UniProtKB/TrEMBL
      F8VS00
      Related
      ENSP00000448595.1, ENST00000551577.5
      Conserved Domains (1) summary
      pfam15113
      Location:4 → 256
      TMEM117; TMEM117 protein family

    2. NM_001286212.2 → NP_001273141.1  transmembrane protein 117 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the central coding region and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      BC030284, BC042192, DB477248
      UniProtKB/TrEMBL
      Q05C15
      Conserved Domains (1) summary
      pfam15113
      Location:67 → 299
      TMEM117; TMEM117 protein family

    3. NM_001286213.2 → NP_001273142.1  transmembrane protein 117 isoform d

      See identical proteins and their annotated locations for NP_001273142.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AL136855, CF994089, DA007410
      UniProtKB/TrEMBL
      Q05C15
      Conserved Domains (1) summary
      pfam15113
      Location:1 → 259
      TMEM117; TMEM117 protein family

    4. NM_032256.3 → NP_115632.1  transmembrane protein 117 isoform a

      See identical proteins and their annotated locations for NP_115632.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL136855, DB477248
      Consensus CDS
      CCDS8745.1
      UniProtKB/Swiss-Prot
      Q9H0C3
      Related
      ENSP00000266534.3, ENST00000266534.8
      Conserved Domains (1) summary
      pfam15113
      Location:4 → 403
      TMEM117; TMEM117 protein family

    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
      43795802..44399108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429662.1 → XP_047285618.1  transmembrane protein 117 isoform X1

      UniProtKB/Swiss-Prot
      Q9H0C3

    2. XM_047429665.1 → XP_047285621.1  transmembrane protein 117 isoform X5

    3. XM_011538832.3 → XP_011537134.1  transmembrane protein 117 isoform X1

      See identical proteins and their annotated locations for XP_011537134.1

      UniProtKB/Swiss-Prot
      Q9H0C3
      Conserved Domains (1) summary
      pfam15113
      Location:4 → 403
      TMEM117; TMEM117 protein family

    4. XM_017020022.2 → XP_016875511.1  transmembrane protein 117 isoform X2

    5. XM_047429663.1 → XP_047285619.1  transmembrane protein 117 isoform X3

    6. XM_047429664.1 → XP_047285620.1  transmembrane protein 117 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      43754527..44357775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373458.1 → XP_054229433.1  transmembrane protein 117 isoform X1

      UniProtKB/Swiss-Prot
      Q9H0C3

    2. XM_054373462.1 → XP_054229437.1  transmembrane protein 117 isoform X5

    3. XM_054373457.1 → XP_054229432.1  transmembrane protein 117 isoform X1

      UniProtKB/Swiss-Prot
      Q9H0C3

    4. XM_054373459.1 → XP_054229434.1  transmembrane protein 117 isoform X2

    5. XM_054373460.1 → XP_054229435.1  transmembrane protein 117 isoform X3

    6. XM_054373461.1 → XP_054229436.1  transmembrane protein 117 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0C3.1 GenPept UniProtKB/Swiss-Prot:Q9H0C3

    Gene LinkOut

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

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