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    TMEM198 transmembrane protein 198 [ Homo sapiens (human) ]

    Gene ID: 130612, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM198provided by HGNC
    Official Full Name
    transmembrane protein 198provided by HGNC
    Primary source
    HGNC:HGNC:33704
    See related
    Ensembl:ENSG00000188760 AllianceGenome:HGNC:33704
    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
    Also known as
    TMEM198A
    Summary
    Involved in positive regulation of canonical Wnt signaling pathway. Located in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 5.5), duodenum (RPKM 3.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM198 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219543663..219550595)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (220028362..220035294)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220408385..220415317)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ASIC4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17153 Neighboring gene GDP-mannose pyrophosphorylase A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17154 Neighboring gene GATA motif-containing MPRA enhancer 279/280 Neighboring gene Sharpr-MPRA regulatory region 4906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220377201-220377842 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220379127-220379302 Neighboring gene acid sensing ion channel subunit family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220387632-220388132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220388133-220388633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220396965-220397562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402386-220402940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402941-220403496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12360 Neighboring gene chondroitin polymerizing factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220417356-220417856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220417857-220418357 Neighboring gene microRNA 3132 Neighboring gene obscurin like cytoskeletal adaptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220422411-220422601 Neighboring gene Sharpr-MPRA regulatory region 8831 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220425347-220426210 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220429659-220430520 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220430521-220431382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220431383-220432244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220434367-220435204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220435205-220436042 Neighboring gene Sharpr-MPRA regulatory region 8639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220441287-220441862 Neighboring gene inhibin subunit alpha Neighboring gene RN7SK pseudogene 213

    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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    Related articles in PubMed

    1. Transmembrane protein 198 promotes LRP6 phosphorylation and Wnt signaling activation. Liang J, et al. Mol Cell Biol, 2011 Jul. PMID 21536646, Free PMC Article
    2. 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
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41180, MGC99813

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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 198

    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_001005209.3 → NP_001005209.1  transmembrane protein 198

      See identical proteins and their annotated locations for NP_001005209.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC009955
      Consensus CDS
      CCDS33385.1
      UniProtKB/Swiss-Prot
      Q66K66
      UniProtKB/TrEMBL
      B4DYC9
      Related
      ENSP00000362990.3, ENST00000373883.4
      Conserved Domains (1) summary
      pfam13886
      Location:41 → 204
      DUF4203; Domain of unknown function (DUF4203)

    2. NM_001303098.2 → NP_001290027.1  transmembrane protein 198

      See identical proteins and their annotated locations for NP_001290027.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC009955
      Consensus CDS
      CCDS33385.1
      UniProtKB/Swiss-Prot
      Q66K66
      UniProtKB/TrEMBL
      B4DYC9
      Related
      ENSP00000343507.2, ENST00000344458.6
      Conserved Domains (1) summary
      pfam13886
      Location:41 → 204
      DUF4203; Domain of unknown function (DUF4203)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219543663..219550595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003367.3 → XP_016858856.1  transmembrane protein 198 isoform X1

      UniProtKB/Swiss-Prot
      Q66K66
      UniProtKB/TrEMBL
      B4DYC9
      Conserved Domains (1) summary
      pfam13886
      Location:41 → 204
      DUF4203; Domain of unknown function (DUF4203)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      220028362..220035294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340574.1 → XP_054196549.1  transmembrane protein 198 isoform X1

      UniProtKB/Swiss-Prot
      Q66K66
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q66K66.1 GenPept UniProtKB/Swiss-Prot:Q66K66

    Gene LinkOut

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

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