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TMEM98 transmembrane protein 98 [ Homo sapiens (human) ]

Gene ID: 26022, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32928153..32944315)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33874221..33890387)
RS_2024_09 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 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. 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)

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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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_2024_08

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

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