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    TMEM220 transmembrane protein 220 [ Homo sapiens (human) ]

    Gene ID: 388335, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM220provided by HGNC
    Official Full Name
    transmembrane protein 220provided by HGNC
    Primary source
    HGNC:HGNC:33757
    See related
    Ensembl:ENSG00000187824 AllianceGenome:HGNC:33757
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver (RPKM 14.0), small intestine (RPKM 7.1) and 23 other tissues See more
    Orthologs
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    Genomic context

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    See TMEM220 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10711133..10730023, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10618686..10637574, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10614450..10633340, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11732 Neighboring gene myosin heavy chain 3 Neighboring gene synthesis of cytochrome C oxidase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10599827-10600650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10600651-10601475 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10616259-10616459 Neighboring gene ADP-ribose/CDP-alcohol diphosphatase, manganese dependent Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10632792-10633378 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10633379-10633965 Neighboring gene mago homolog 2, pseudogene Neighboring gene TMEM220 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10637362-10637547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10651975-10652524 Neighboring gene Sharpr-MPRA regulatory region 1671 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10701903-10702404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10702405-10702904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10707035-10707820 Neighboring gene transmembrane protein 238 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10710569-10711070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10711071-10711570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10718319-10718820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10740215-10740716 Neighboring gene phosphoinositide interacting regulator of transient receptor potential channels

    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. Downregulation of TMEM220 promotes tumor progression in Hepatocellular Carcinoma. Li T, et al. Cancer Gene Ther, 2022 Jun. PMID 34321624
    2. Prognostic signatures and potential pathogenesis of eRNAs-related genes in colon adenocarcinoma. Rong H, et al. Mol Carcinog, 2022 Jan. PMID 34622496
    3. MAL and TMEM220 are novel DNA methylation markers in human gastric cancer. Choi B, et al. Biomarkers, 2017 Feb. PMID 27329150
    4. Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. Brandler WM, et al. PLoS Genet, 2013. PMID 24068947, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of TMEM220 promotes tumor progression in Hepatocellular Carcinoma.
      Title: Downregulation of TMEM220 promotes tumor progression in Hepatocellular Carcinoma.
    2. Prognostic signatures and potential pathogenesis of eRNAs-related genes in colon adenocarcinoma.
      Title: Prognostic signatures and potential pathogenesis of eRNAs-related genes in colon adenocarcinoma.
    3. MAL and TMEM220 were specifically methylated and were down-regulated in human gastric cancer
      Title: MAL and TMEM220 are novel DNA methylation markers in human gastric cancer.
    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

    EBI GWAS Catalog

    Description
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 220

    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_001004313.3 → NP_001004313.1  transmembrane protein 220 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC002347
      Consensus CDS
      CCDS32567.1
      UniProtKB/Swiss-Prot
      A1YRJ4, B2RNE4, B4DJ52, B9EGW3, Q6QAJ8
      Related
      ENSP00000339830.4, ENST00000341871.8
      Conserved Domains (1) summary
      pfam15071
      Location:23 → 111
      TMEM220; Transmembrane family 220, helix

    2. NM_001330139.3 → NP_001317068.1  transmembrane protein 220 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC002347
      Consensus CDS
      CCDS82075.1
      UniProtKB/Swiss-Prot
      Q6QAJ8
      Related
      ENSP00000396973.2, ENST00000455996.6
      Conserved Domains (1) summary
      pfam15071
      Location:25 → 101
      TMEM220; Transmembrane family 220, helix

    3. NM_001330140.3 → NP_001317069.1  transmembrane protein 220 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC002347
      Consensus CDS
      CCDS82074.1
      UniProtKB/TrEMBL
      J3KSZ3
      Related
      ENSP00000462723.1, ENST00000578345.1

    4. NM_001359647.2 → NP_001346576.1  transmembrane protein 220 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC002347
      Conserved Domains (1) summary
      pfam15071
      Location:25 → 101
      TMEM220; Transmembrane family 220, helix

    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
      10711133..10730023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024616.2 → XP_016880105.1  transmembrane protein 220 isoform X1

    2. XM_011523835.3 → XP_011522137.1  transmembrane protein 220 isoform X3

      Conserved Domains (1) summary
      pfam15071
      Location:23 → 96
      TMEM220; Transmembrane family 220, helix

    3. XM_047435960.1 → XP_047291916.1  transmembrane protein 220 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      10618686..10637574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316029.1 → XP_054172004.1  transmembrane protein 220 isoform X1

    2. XM_054316031.1 → XP_054172006.1  transmembrane protein 220 isoform X3

    3. XM_054316030.1 → XP_054172005.1  transmembrane protein 220 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6QAJ8.1 GenPept UniProtKB/Swiss-Prot:Q6QAJ8

    Gene LinkOut

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

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