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    SMIM18 small integral membrane protein 18 [ Homo sapiens (human) ]

    Gene ID: 100507341, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SMIM18provided by HGNC
    Official Full Name
    small integral membrane protein 18provided by HGNC
    Primary source
    HGNC:HGNC:42973
    See related
    Ensembl:ENSG00000253457 AllianceGenome:HGNC:42973
    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
    Biased expression in brain (RPKM 1.9), adrenal (RPKM 0.3) and 1 other tissue See more
    Orthologs
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    Genomic context

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    See SMIM18 in Genome Data Viewer
    Location:
    8p12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (30638580..30646064)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (30916978..30925515)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30496097..30503581)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268025 Neighboring gene RNA binding protein, mRNA processing factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30284105-30284606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30284607-30285106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30295211-30295746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30303831-30304359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30304360-30304887 Neighboring gene Sharpr-MPRA regulatory region 3907 Neighboring gene NANOG hESC enhancer GRCh37_chr8:30310384-30310885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30318783-30319578 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:30333285-30333476 Neighboring gene uncharacterized LOC124901929 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30396862-30397470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30396143-30396854 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30397471-30398079 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30398080-30398688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:30398689-30399296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:30399297-30399906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30400515-30401122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30401123-30401730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30406725-30407384 Neighboring gene Sharpr-MPRA regulatory region 2547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30416141-30416640 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30415639-30416140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30422314-30422922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19079 Neighboring gene general transcription factor IIE subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27213 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30514282-30514953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30515625-30516296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19080 Neighboring gene RNA, U5A small nuclear 3, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr8:30560335-30560881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19082 Neighboring gene glutathione-disulfide reductase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30584261-30584948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30586711-30587235 Neighboring gene uncharacterized LOC105379356 Neighboring gene uncharacterized LOC105379355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27214 Neighboring gene UBX domain 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. Discovery of 342 putative new genes from the analysis of 5'-end-sequenced full-length-enriched cDNA human transcripts. Dalla E, et al. Genomics, 2005 Jun. PMID 15885500
    2. Common genetic variation and performance on standardized cognitive tests. Cirulli ET, et al. Eur J Hum Genet, 2010 Jul. PMID 20125193, Free PMC Article
    3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    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

    EBI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    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
    small integral membrane protein 18

    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_001206847.2 → NP_001193776.1  small integral membrane protein 18

      See identical proteins and their annotated locations for NP_001193776.1

      Status: VALIDATED

      Source sequence(s)
      AC102945, AC103959, BM710955, DR033682
      Consensus CDS
      CCDS56529.1
      UniProtKB/Swiss-Prot
      P0DKX4
      Related
      ENSP00000428858.1, ENST00000517349.2
      Conserved Domains (1) summary
      cd20255
      Location:4 → 85
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      30638580..30646064
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447050.2 → XP_024302818.1  small integral membrane protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P0DKX4
      Conserved Domains (1) summary
      cd20255
      Location:4 → 85
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    2. XM_017012943.2 → XP_016868432.1  small integral membrane protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P0DKX4
      Conserved Domains (1) summary
      cd20255
      Location:4 → 85
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      30916978..30925515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359526.1 → XP_054215501.1  small integral membrane protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P0DKX4

    2. XM_054359527.1 → XP_054215502.1  small integral membrane protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P0DKX4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DKX4.1 GenPept UniProtKB/Swiss-Prot:P0DKX4

    Gene LinkOut

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

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