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    TMEM222 transmembrane protein 222 [ Homo sapiens (human) ]

    Gene ID: 84065, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TMEM222provided by HGNC
    Official Full Name
    transmembrane protein 222provided by HGNC
    Primary source
    HGNC:HGNC:25363
    See related
    Ensembl:ENSG00000186501 MIM:619469; AllianceGenome:HGNC:25363
    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
    C1orf160; NEDMOSBA
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.2), testis (RPKM 10.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27322163..27336400)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27163397..27177637)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27648654..27662891)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 506 Neighboring gene WDTC1 divergent transcript Neighboring gene WD and tetratricopeptide repeats 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27613415-27614057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27615731-27616716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27625813-27626326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27627354-27627866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27627867-27628380 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27633747-27634272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27634273-27634798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27634799-27635323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27648068-27648614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27648615-27649162 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27649163-27649709 Neighboring gene actin gamma 1 pseudogene 20 Neighboring gene RNA, U6 small nuclear 48, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27669148-27669765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27673548-27674088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27674089-27674627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 509 Neighboring gene synaptotagmin like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27685945-27686480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27686481-27687016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27692433-27693376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27693377-27694318 Neighboring gene mitogen-activated protein kinase kinase kinase 6

    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. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. Polla DL, et al. Genet Med, 2021 Jul. PMID 33824500, Free PMC Article
    2. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. Lehner B, et al. Genomics, 2004 Jan. PMID 14667819
    3. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

    See all (19) citations in PubMed

    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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
    MedGen: C5561954 OMIM: 619470 GeneReviews: Not available
    		Compare labs

    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

    • MGC111002, DKFZp564D0478

    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 dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 222

    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_032125.3 → NP_115501.2  transmembrane protein 222

      See identical proteins and their annotated locations for NP_115501.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a protein.
      Source sequence(s)
      BC090039, DC424669
      Consensus CDS
      CCDS297.2
      UniProtKB/Swiss-Prot
      D3DPL6, Q53HD8, Q5FVE9, Q9H0R3
      UniProtKB/TrEMBL
      B4E1F7
      Related
      ENSP00000363189.4, ENST00000374076.9
      Conserved Domains (1) summary
      pfam05608
      Location:61 → 178
      DUF778; Protein of unknown function (DUF778)

    RNA

    1. NR_037576.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an additional exon which includes an internal stop codon compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so will probably not make a protein.
      Source sequence(s)
      BC090039, DC424669
      Related
      ENST00000464720.5

    2. NR_037577.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an additional exon which includes an internal stop codon compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so will probably not make a protein.
      Source sequence(s)
      BC090039, BP326836, BX394857

    3. NR_037580.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has two additional exons, one of which includes an internal stop codon compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so will probably not make a protein.
      Source sequence(s)
      BC090039, BQ927627, DC424669

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      27322163..27336400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431775.1 → XP_047287731.1  transmembrane protein 222 isoform X1

    RNA

    1. XR_001737477.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      27163397..27177637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339064.1 → XP_054195039.1  transmembrane protein 222 isoform X1

    RNA

    1. XR_008486176.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0R3.2 GenPept UniProtKB/Swiss-Prot:Q9H0R3

    Gene LinkOut

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

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