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    TMEM220 transmembrane protein 220 [ Homo sapiens (human) ]

    Gene ID: 388335, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 14.0), small intestine (RPKM 7.1) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001004313.3NP_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:23111
      TMEM220; Transmembrane family 220, helix
    2. NM_001330139.3NP_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:25101
      TMEM220; Transmembrane family 220, helix
    3. NM_001330140.3NP_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_001359647.2NP_001346576.1  transmembrane protein 220 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC002347
      Conserved Domains (1) summary
      pfam15071
      Location:25101
      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_017024616.2XP_016880105.1  transmembrane protein 220 isoform X1

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

      Conserved Domains (1) summary
      pfam15071
      Location:2396
      TMEM220; Transmembrane family 220, helix
    3. XM_047435960.1XP_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_054316029.1XP_054172004.1  transmembrane protein 220 isoform X1

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

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