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    TMEM270 transmembrane protein 270 [ Homo sapiens (human) ]

    Gene ID: 135886, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM270provided by HGNC
    Official Full Name
    transmembrane protein 270provided by HGNC
    Primary source
    HGNC:HGNC:23018
    See related
    Ensembl:ENSG00000175877 MIM:612547; AllianceGenome:HGNC:23018
    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
    WBSCR28
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 15.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM270 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73860848..73865890)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75061792..75066837)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73275489..73280220)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245012-73245714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245715-73246417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18269 Neighboring gene methyltransferase like 27 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73270039-73270538 Neighboring gene claudin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73284301-73285230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73285703-73286258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73313687-73314360 Neighboring gene Sharpr-MPRA regulatory region 8209 Neighboring gene Sharpr-MPRA regulatory region 9451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73414582-73415082 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:73417073-73418272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73440914-73441886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73442859-73443830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73447495-73448122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73448123-73448750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73465984-73466807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73475944-73476444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73476445-73476945 Neighboring gene elastin Neighboring gene ELN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73496834-73497512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73497513-73498191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73499459-73500058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73500059-73500656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73504464-73504964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73504965-73505465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73507121-73507662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73508745-73509285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73519804-73520304 Neighboring gene LIM domain kinase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73529551-73530186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73530187-73530821

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Osborne LR, et al. Genomics, 1996 Sep 1. PMID 8812460
    2. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article
    3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    4. 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

    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)

    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

    • MGC26719

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 270
    Names
    Williams-Beuren syndrome chromosome region 28
    Williams-Beuren syndrome critical region 28
    williams-Beuren syndrome chromosomal region 28 protein

    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_182504.4 → NP_872310.2  transmembrane protein 270

      See identical proteins and their annotated locations for NP_872310.2

      Status: VALIDATED

      Source sequence(s)
      AC093168, AY372053
      Consensus CDS
      CCDS43597.1
      UniProtKB/Swiss-Prot
      Q6UE04, Q6UE05, Q8NHP4
      Related
      ENSP00000316775.2, ENST00000320531.3
      Conserved Domains (1) summary
      pfam15164
      Location:1 → 265
      WBS28; Williams-Beuren syndrome chromosomal region 28 protein homologue

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73860848..73865890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011741.2 → XP_016867230.1  transmembrane protein 270 isoform X1

      UniProtKB/Swiss-Prot
      Q6UE05
      Conserved Domains (1) summary
      pfam15164
      Location:1 → 168
      WBS28; Williams-Beuren syndrome chromosomal region 28 protein homologue

    2. XM_011515785.3 → XP_011514087.1  transmembrane protein 270 isoform X1

      See identical proteins and their annotated locations for XP_011514087.1

      UniProtKB/Swiss-Prot
      Q6UE05
      Conserved Domains (1) summary
      pfam15164
      Location:1 → 168
      WBS28; Williams-Beuren syndrome chromosomal region 28 protein homologue

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75061792..75066837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357227.1 → XP_054213202.1  transmembrane protein 270 isoform X1

    2. XM_054357226.1 → XP_054213201.1  transmembrane protein 270 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UE05.2 GenPept UniProtKB/Swiss-Prot:Q6UE05

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