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TMEM116 transmembrane protein 116 [ Homo sapiens (human) ]

Gene ID: 89894, updated on 11-Apr-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
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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
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
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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