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    SMIM21 small integral membrane protein 21 [ Homo sapiens (human) ]

    Gene ID: 284274, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SMIM21provided by HGNC
    Official Full Name
    small integral membrane protein 21provided by HGNC
    Primary source
    HGNC:HGNC:27598
    See related
    Ensembl:ENSG00000206026 AllianceGenome:HGNC:27598
    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
    C18orf62
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See SMIM21 in Genome Data Viewer
    Location:
    18q23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (75409476..75427703, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (75638773..75656968, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (73121431..73139658, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72916583-72917576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72920599-72921529 Neighboring gene Sharpr-MPRA regulatory region 3936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9549 Neighboring gene prostaglandin reductase 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:72947291-72948490 Neighboring gene teashirt zinc finger homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72985503-72986004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72986005-72986504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72990985-72991486 Neighboring gene Sharpr-MPRA regulatory region 9768 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:73061340-73062286 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:73062287-73063231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73072069-73072610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73072611-73073151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73090414-73090914 Neighboring gene uncharacterized LOC105372200 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73120415-73121614 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:73141751-73142950 Neighboring gene uncharacterized LOC124900405 Neighboring gene uncharacterized LOC107985177 Neighboring gene uncharacterized LOC105372201

    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. Mood disorders in individuals with distal 18q deletions. Daviss WB, et al. Am J Med Genet B Neuropsychiatr Genet, 2013 Dec. PMID 24006251
    2. Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions. Mark PR, et al. Am J Med Genet A, 2013 May. PMID 23495172
    3. A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. Bossini-Castillo L, et al. Ann Rheum Dis, 2015 Mar. PMID 24532677
    4. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, 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

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
    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

    Clone Names

    • MGC126049

    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
    small integral membrane protein 21

    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_001037331.3 → NP_001032408.1  small integral membrane protein 21 isoform 1

      See identical proteins and their annotated locations for NP_001032408.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC116003, AK093452
      Consensus CDS
      CCDS32845.1
      UniProtKB/Swiss-Prot
      Q3B7S5
      Related
      ENSP00000462106.1, ENST00000579022.5

    2. NM_001303482.2 → NP_001290411.1  small integral membrane protein 21 isoform 2

      See identical proteins and their annotated locations for NP_001290411.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' terminal exon compared to variant 1. The encoded isoform (2) is shorter, and contains a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC116003, AK093452, AW118572, BC037871, BX117297
      Consensus CDS
      CCDS77200.1
      UniProtKB/TrEMBL
      J3KSN8
      Related
      ENSP00000462572.1, ENST00000584508.1

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      75409476..75427703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      75638773..75656968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3B7S5.1 GenPept UniProtKB/Swiss-Prot:Q3B7S5

    Gene LinkOut

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

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