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    TMEM98 transmembrane protein 98 [ Homo sapiens (human) ]

    Gene ID: 26022, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM98provided by HGNC
    Official Full Name
    transmembrane protein 98provided by HGNC
    Primary source
    HGNC:HGNC:24529
    See related
    Ensembl:ENSG00000006042 MIM:615949; AllianceGenome:HGNC:24529
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TADA1
    Summary
    This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]
    Expression
    Ubiquitous expression in ovary (RPKM 69.4), endometrium (RPKM 44.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM98 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32928153..32944315)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33874221..33890387)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (31255171..31271333)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin ID Neighboring gene Sharpr-MPRA regulatory region 12414 Neighboring gene uncharacterized LOC124903981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12039 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:31203674-31203861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:31213662-31214258 Neighboring gene CRISPRi-validated MYO1D non-hub enhancer 1 Neighboring gene CRISPRi-validated cis-regulatory element chr17.1747 Neighboring gene Sharpr-MPRA regulatory region 12135 Neighboring gene CRISPRi-validated MYO1D hub enhancer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:31244864-31245495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31262798-31263448 Neighboring gene Sharpr-MPRA regulatory region 812 Neighboring gene MYO1D divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr17:31329363-31329898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31341295-31341796 Neighboring gene H2B.N variant histone 1 Neighboring gene uncharacterized LOC105371737 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:31439262-31440461 Neighboring gene sperm acrosome associated 3 Neighboring gene acid sensing ion channel subunit 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
    • 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. Tumor-Suppressor Gene Transmembrane Protein 98 Promotes Proliferation and Inhibits Apoptosis in Ovarian Cancer. Wu SG, et al. Front Biosci (Landmark Ed), 2022 Jun 30. PMID 35866395
    2. A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity. Koenighofer M, et al. Exp Eye Res, 2021 Apr. PMID 33596443
    3. siRNA-TMEM98 inhibits the invasion and migration of lung cancer cells. Mao M, et al. Int J Clin Exp Pathol, 2015. PMID 26884835, Free PMC Article
    4. Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. Khorram D, et al. Mol Vis, 2015. PMID 26392740, Free PMC Article
    5. Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. Awadalla MS, et al. JAMA Ophthalmol, 2014 Aug. PMID 24852644

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.
      Title: Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.
    2. Tumor-Suppressor Gene Transmembrane Protein 98 Promotes Proliferation and Inhibits Apoptosis in Ovarian Cancer.
      Title: Tumor-Suppressor Gene Transmembrane Protein 98 Promotes Proliferation and Inhibits Apoptosis in Ovarian Cancer.
    3. A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
      Title: A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
    4. TMEM98 mRNA promotes proliferation and invasion of gastric cells by directly interacting with NF90 protein.
      Title: TMEM98 mRNA promotes proliferation and invasion of gastric cells by directly interacting with NF90 protein.
    5. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
      Title: Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
    6. Mutations in the mouse orthologue of the human nanophthalmos gene TMEM98 do not result in small eyes. Rather, there is localized disruption of the laminar structure of the photoreceptors.
      Title: Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.
    7. miR-219-5p could inhibit wound healing by targeting TMEM98 in keratinocytes.
      Title: MicroRNA-219-5p inhibits wound healing by targeting TMEM98 in keratinocytes under normoxia and hypoxia condition.
    8. siRNA-TMEM98 inhibited the invasion and migration of non-small cell lung cancer cells.
      Title: siRNA-TMEM98 inhibits the invasion and migration of lung cancer cells.
    9. Two novel TMEM98 mutations have been found in two pedigrees with autosomal dominant nanophthalmos.
      Title: Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.
    10. we identified a panel of novel common chemoresistance-associated genes and demonstrated that TMEM98 is a chemoresistance-conferring gene in hepatocellular carcinoma.
      Title: Identification of transmembrane protein 98 as a novel chemoresistance-conferring gene in hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    Associated conditions

    Description Tests
    Nanophthalmos 4
    MedGen: C4014848 OMIM: 615972 GeneReviews: Not available
    		Compare labs

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp564K1964

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T-helper 1 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 98

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_034264.2 RefSeqGene

      Range
      5002..21164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033504.2 → NP_001028676.1  transmembrane protein 98

      See identical proteins and their annotated locations for NP_001028676.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC084809, AY358573
      Consensus CDS
      CCDS11274.1
      UniProtKB/Swiss-Prot
      E1P631, Q9UFK2, Q9Y2Y6
      UniProtKB/TrEMBL
      B2R8Z5
      Related
      ENSP00000378138.3, ENST00000394642.7
      Conserved Domains (1) summary
      pfam13324
      Location:48 → 152
      GCIP; Grap2 and cyclin-D-interacting

    2. NM_001301746.2 → NP_001288675.1  transmembrane protein 98

      See identical proteins and their annotated locations for NP_001288675.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC084809, AY358573, BQ228781
      Consensus CDS
      CCDS11274.1
      UniProtKB/Swiss-Prot
      E1P631, Q9UFK2, Q9Y2Y6
      UniProtKB/TrEMBL
      B2R8Z5
      Related
      ENSP00000406394.1, ENST00000439138.5
      Conserved Domains (1) summary
      pfam13324
      Location:48 → 152
      GCIP; Grap2 and cyclin-D-interacting

    3. NM_015544.3 → NP_056359.2  transmembrane protein 98

      See identical proteins and their annotated locations for NP_056359.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents a predominant transcript. This variant and variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC084809, AY358573
      Consensus CDS
      CCDS11274.1
      UniProtKB/Swiss-Prot
      E1P631, Q9UFK2, Q9Y2Y6
      UniProtKB/TrEMBL
      B2R8Z5
      Related
      ENSP00000463245.1, ENST00000579849.6
      Conserved Domains (1) summary
      pfam13324
      Location:48 → 152
      GCIP; Grap2 and cyclin-D-interacting

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      32928153..32944315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      33874221..33890387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2Y6.1 GenPept UniProtKB/Swiss-Prot:Q9Y2Y6

    Gene LinkOut

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

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