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    TMEM116 transmembrane protein 116 [ Homo sapiens (human) ]

    Gene ID: 89894, updated on 17-Jun-2024

    Summary

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    Official Symbol
    TMEM116provided by HGNC
    Official Full Name
    transmembrane protein 116provided by HGNC
    Primary source
    HGNC:HGNC:25084
    See related
    Ensembl:ENSG00000198270 AllianceGenome:HGNC:25084
    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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 7.8), kidney (RPKM 3.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM116 in Genome Data Viewer
    Location:
    12q24.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (111931282..112013219, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (111908187..111990124, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112369086..112451023, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MAPK activated protein kinase 5 Neighboring gene ADAM metallopeptidase domain 1A (pseudogene) Neighboring gene ADAM metallopeptidase domain 1B (pseudogene) Neighboring gene MPRA-validated peak1957 silencer Neighboring gene MPRA-validated peak1958 silencer Neighboring gene Sharpr-MPRA regulatory region 5697 Neighboring gene solute carrier family 25 member 3 pseudogene 2 Neighboring gene immediate early response 3 interacting protein 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112448927-112449440 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112449945-112450833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7043 Neighboring gene uncharacterized LOC124903021 Neighboring gene NANOG hESC enhancer GRCh37_chr12:112471007-112471508 Neighboring gene endoplasmic reticulum protein 29 Neighboring gene N-alpha-acetyltransferase 25, NatB auxiliary subunit Neighboring gene microRNA 3657

    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. TMEM116 is required for lung cancer cell motility and metastasis through PDK1 signaling pathway. Zhang S, et al. Cell Death Dis, 2021 Nov 16. PMID 34789718, Free PMC Article
    2. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM116 is required for lung cancer cell motility and metastasis through PDK1 signaling pathway.
      Title: TMEM116 is required for lung cancer cell motility and metastasis through PDK1 signaling pathway.
    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

    • FLJ11466, FLJ35513, FLJ90167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 116

    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_001193453.2 → NP_001180382.1  transmembrane protein 116 isoform 2

      See identical proteins and their annotated locations for NP_001180382.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC004024, AC073575, BC000282, BI828772
      Consensus CDS
      CCDS55886.1
      UniProtKB/TrEMBL
      Q9BWF8
      Related
      ENSP00000347620.2, ENST00000355445.7
      Conserved Domains (2) summary
      cd14964
      Location:191 → 215
      7tm_GPCRs; TM helix 6 [structural motif]
      cl28897
      Location:143 → 250
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    2. NM_001193531.2 → NP_001180460.1  transmembrane protein 116 isoform 1

      See identical proteins and their annotated locations for NP_001180460.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC004024, AC073575, BC048796, BF435254, BI828772
      Consensus CDS
      CCDS55887.1
      UniProtKB/TrEMBL
      Q9BWF8
      Related
      ENSP00000447731.1, ENST00000552374.7
      Conserved Domains (2) summary
      cd14964
      Location:226 → 250
      7tm_GPCRs; TM helix 6 [structural motif]
      cl28897
      Location:178 → 285
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    3. NM_001294314.2 → NP_001281243.1  transmembrane protein 116 isoform 3

      See identical proteins and their annotated locations for NP_001281243.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AC004024, AK074648, BF435254, BI828772, DB030882
      Consensus CDS
      CCDS9157.1
      UniProtKB/Swiss-Prot
      G3V1W7, G5E985, Q6NSH5, Q8IZ66, Q8NCL8
      Conserved Domains (2) summary
      cd14964
      Location:134 → 158
      7tm_GPCRs; TM helix 6 [structural motif]
      cl28897
      Location:86 → 193
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    4. NM_138341.3 → NP_612350.1  transmembrane protein 116 isoform 3

      See identical proteins and their annotated locations for NP_612350.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AC004024, AC073575, BC070135, BF435254, BI828772
      Consensus CDS
      CCDS9157.1
      UniProtKB/Swiss-Prot
      G3V1W7, G5E985, Q6NSH5, Q8IZ66, Q8NCL8
      Related
      ENSP00000450377.1, ENST00000550831.7
      Conserved Domains (2) summary
      cd14964
      Location:134 → 158
      7tm_GPCRs; TM helix 6 [structural motif]
      cl28897
      Location:86 → 193
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    RNA

    1. NR_122119.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL519857, BF435254, BI828772, DB030882
      Related
      ENST00000549537.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      111931282..112013219 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      111908187..111990124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCL8.1 GenPept UniProtKB/Swiss-Prot:Q8NCL8

    Gene LinkOut

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

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