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TMEM220 transmembrane protein 220 [ Homo sapiens (human) ]

Gene ID: 388335, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
17p13.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10711133..10730023, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10618686..10637574, complement)
105.20220307 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: 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. 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)

Genotypes

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

    See identical proteins and their annotated locations for NP_001004313.1

    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_2023_10

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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