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TMEM270 transmembrane protein 270 [ Homo sapiens (human) ]

Gene ID: 135886, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73860848..73865890)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75061792..75066837)
105.20220307 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: 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. 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)

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

  • 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_2023_10

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

Gene LinkOut

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