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    TMEM217 transmembrane protein 217 [ Homo sapiens (human) ]

    Gene ID: 221468, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM217provided by HGNC
    Official Full Name
    transmembrane protein 217provided by HGNC
    Primary source
    HGNC:HGNC:21238
    See related
    Ensembl:ENSG00000172738 AllianceGenome:HGNC:21238
    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
    C6orf128; dJ355M6.2
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 3.1), adrenal (RPKM 0.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM217 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (37212181..37258144, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37035836..37081752, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37179957..37225920, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37069635-37070242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37070243-37070850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17129 Neighboring gene CRISPRi-validated cis-regulatory element chr6.2479 Neighboring gene ribosomal protein L12 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37083327-37083916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37091769-37092747 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37092748-37093726 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:37093727-37094705 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37094807-37095484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37098237-37099155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37099156-37100073 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37105214-37106050 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:37109113-37109630 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37137173-37137771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17131 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:37139693-37140286 Neighboring gene CRISPR perturbation-validated PIM1 cis-regulatory element TAD2.SE2.HS2 Neighboring gene Pim-1 proto-oncogene, serine/threonine kinase Neighboring gene Sharpr-MPRA regulatory region 1580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17134 Neighboring gene transmembrane protein 217B Neighboring gene Sharpr-MPRA regulatory region 10381 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24455 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37225915-37226550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37232157-37232657 Neighboring gene TBC1 domain family member 22B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17138 Neighboring gene Sharpr-MPRA regulatory region 3623 Neighboring gene uncharacterized LOC105375040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24457 Neighboring gene RNA, 7SL, cytoplasmic 273, pseudogene Neighboring gene ring finger protein 8

    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 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. Modification and identification of cytochrome b5 carboxyl groups involved in protein-protein interaction with cytochrome b5 reductase. Dailey HA, et al. J Biol Chem, 1979 Jun 25. PMID 221468
    2. Genome-wide association of mood-incongruent psychotic bipolar disorder. Goes FS, et al. Transl Psychiatry, 2012 Oct 23. PMID 23092984, Free PMC Article
    3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. Chapuis J, et al. Mol Psychiatry, 2009 Nov. PMID 19204726, Free PMC Article
    4. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181
    5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
    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
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    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

    General gene information

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    Markers

    Homology

    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 217

    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_001162900.3 → NP_001156372.1  transmembrane protein 217 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL353579
      Consensus CDS
      CCDS93908.1
      UniProtKB/TrEMBL
      A0A494BZZ0, A0A494C081
      Related
      ENSP00000498333.1, ENST00000652639.1
      Conserved Domains (1) summary
      pfam15049
      Location:11 → 171
      DUF4534; Protein of unknown function (DUF4534)

    2. NM_001286401.2 → NP_001273330.1  transmembrane protein 217 isoform 3

      See identical proteins and their annotated locations for NP_001273330.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL353579, AW188099, BC009625, BC026012, BG285024
      Consensus CDS
      CCDS69102.1
      UniProtKB/TrEMBL
      A0A494C0S4
      Related
      ENSP00000499204.1, ENST00000651039.2
      Conserved Domains (1) summary
      pfam15049
      Location:12 → 171
      DUF4534; Protein of unknown function (DUF4534)

    3. NM_001371555.1 → NP_001358484.1  transmembrane protein 217 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL353579
      Consensus CDS
      CCDS69102.1
      UniProtKB/TrEMBL
      A0A494C0S4
      Related
      ENSP00000349198.2, ENST00000356757.7
      Conserved Domains (1) summary
      pfam15049
      Location:12 → 171
      DUF4534; Protein of unknown function (DUF4534)

    4. NM_001395238.1 → NP_001382167.1  transmembrane protein 217 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL353579
      UniProtKB/TrEMBL
      A0A494BZZ0
      Conserved Domains (1) summary
      pfam15049
      Location:11 → 171
      DUF4534; Protein of unknown function (DUF4534)

    5. NM_001395240.1 → NP_001382169.1  transmembrane protein 217 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL353579
      Consensus CDS
      CCDS93908.1
      UniProtKB/TrEMBL
      A0A494BZZ0, A0A494C081
      Related
      ENSP00000498422.1, ENST00000357219.4
      Conserved Domains (1) summary
      pfam15049
      Location:11 → 171
      DUF4534; Protein of unknown function (DUF4534)

    6. NM_001395241.1 → NP_001382170.1  transmembrane protein 217 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL353579

    7. NM_001395242.1 → NP_001382171.1  transmembrane protein 217 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL353579

    8. NM_001395243.1 → NP_001382172.1  transmembrane protein 217 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL353579
      Consensus CDS
      CCDS93910.1
      UniProtKB/TrEMBL
      A0A494BZZ0, A0A494C140
      Related
      ENSP00000498862.1, ENST00000652218.1

    9. NM_001395244.1 → NP_001382173.1  transmembrane protein 217 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL353579
      Consensus CDS
      CCDS93909.1
      UniProtKB/TrEMBL
      A0A494C0S4, A0A494C1J7
      Related
      ENSP00000499097.1, ENST00000652495.1

    10. NM_145316.4 → NP_660359.2  transmembrane protein 217 isoform 1

      See identical proteins and their annotated locations for NP_660359.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK098666, AL353579, DB458508
      Consensus CDS
      CCDS4831.1
      UniProtKB/Swiss-Prot
      Q8N7C4, Q8TC54
      UniProtKB/TrEMBL
      A0A494BZZ0
      Related
      ENSP00000338164.2, ENST00000336655.7
      Conserved Domains (1) summary
      pfam15049
      Location:11 → 171
      DUF4534; Protein of unknown function (DUF4534)

    RNA

    1. NR_172517.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL353579

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      37212181..37258144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      37035836..37081752 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7C4.1 GenPept UniProtKB/Swiss-Prot:Q8N7C4

    Gene LinkOut

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

    Chemical Information
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