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    TMEM187 transmembrane protein 187 [ Homo sapiens (human) ]

    Gene ID: 8269, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM187provided by HGNC
    Official Full Name
    transmembrane protein 187provided by HGNC
    Primary source
    HGNC:HGNC:13705
    See related
    Ensembl:ENSG00000177854 MIM:300059; AllianceGenome:HGNC:13705
    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
    ITBA1; CXorf12; DXS9878E
    Summary
    This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in prostate (RPKM 3.1), fat (RPKM 2.8) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TMEM187 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153972754..153983194)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152246474..152256904)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153238205..153248645)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153200750-153201255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153201256-153201760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153204898-153205662 Neighboring gene renin binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153210247-153211010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153213176-153213715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30044 Neighboring gene host cell factor C1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153231131-153231789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153231790-153232449 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153234675-153234853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30045 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153235869-153236718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21078 Neighboring gene HCFC1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30048 Neighboring gene microRNA 3202-1 Neighboring gene microRNA 3202-2 Neighboring gene CRISPRi-validated cis-regulatory element chrX.2695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153265676-153266176 Neighboring gene NFE2L2 motif-containing MPRA enhancer 190/191 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153277410-153278394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153278395-153279378 Neighboring gene interleukin 1 receptor associated kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153285318-153286287 Neighboring gene microRNA 718

    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. Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene. Hernangomez-Laderas A, et al. Biol Sex Differ, 2023 Dec 11. PMID 38072919, Free PMC Article
    2. Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients. Zaghloul HM, et al. Egypt J Immunol, 2023 Jul. PMID 37440666
    3. TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin. Khalifa O, et al. J Immunol Res, 2017. PMID 28271077, Free PMC Article
    4. Characterization and fine localization of two new genes in Xq28 using the genomic sequence/EST database screening approach. Faranda S, et al. Genomics, 1996 Jun 15. PMID 8786131
    5. The complete sequence of the host cell factor 1 (HCFC1) gene and its promoter: a role for YY1 transcription factor in the regulation of its expression. Zoppè M, et al. Genomics, 1996 May 15. PMID 8661027

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene.
      Title: Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene.
    2. Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients.
      Title: Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients.
    3. study investigated association between 3 polymorphisms in the Xq28 region containing TMEM187 and IRAK1 (rs13397, rs1059703, and rs1059702) with rheumatoid arthritis (RA)susceptibility; results replicated association of the 3 Xq28 polymorphisms with RA risk in Tunisian and French populations and suggested that RA susceptibility is associated with TMEM187-IRAK1 polymorphisms in women
      Title: TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin.
    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

    • FLJ95849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 187

    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_021222.1 RefSeqGene

      Range
      5215..15655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003492.3 → NP_003483.1  transmembrane protein 187

      See identical proteins and their annotated locations for NP_003483.1

      Status: REVIEWED

      Source sequence(s)
      BC008203, U52112
      Consensus CDS
      CCDS14739.1
      UniProtKB/Swiss-Prot
      B2RC47, Q14656, Q6IAV7
      Related
      ENSP00000358999.4, ENST00000369982.5
      Conserved Domains (1) summary
      pfam15100
      Location:8 → 245
      TMEM187; TMEM187 protein family

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153972754..153983194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152246474..152256904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327944.1 → XP_054183919.1  transmembrane protein 187 isoform X1

      UniProtKB/Swiss-Prot
      B2RC47, Q14656, Q6IAV7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14656.1 GenPept UniProtKB/Swiss-Prot:Q14656

    Gene LinkOut

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

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