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    SMIM38 small integral membrane protein 38 [ Homo sapiens (human) ]

    Gene ID: 107984345, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SMIM38provided by HGNC
    Official Full Name
    small integral membrane protein 38provided by HGNC
    Primary source
    HGNC:HGNC:54074
    See related
    Ensembl:ENSG00000284713 AllianceGenome:HGNC:54074
    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 stomach (RPKM 5.3), testis (RPKM 1.3) and 6 other tissues See more
    Orthologs
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    Genomic context

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    See SMIM38 in Genome Data Viewer
    Location:
    11q13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (69155573..69162440)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (69167904..69174769)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68923041..68929908)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902701 Neighboring gene uncharacterized LOC124902702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68807523-68808024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68808025-68808524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68811813-68812480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68818804-68819378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68820529-68821102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68833413-68834165 Neighboring gene two pore segment channel 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:68847233-68848432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68853053-68853554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68853555-68854054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3690 Neighboring gene microRNA 3164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68869613-68870113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68887863-68888491 Neighboring gene Sharpr-MPRA regulatory region 9006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68916179-68916678 Neighboring gene Sharpr-MPRA regulatory region 4947 Neighboring gene uncharacterized LOC338694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68922957-68923884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3692 Neighboring gene Sharpr-MPRA regulatory region 1080 Neighboring gene uncharacterized LOC105369366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68963671-68964295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68974538-68975038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68975039-68975539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68975921-68976422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68976423-68976922 Neighboring gene uncharacterized LOC105369367

    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 high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci. Mudge JM, et al. Genome Res, 2019 Dec. PMID 31537640, Free PMC Article
    2. Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, et al. Nature, 2006 Mar 23. PMID 16554811

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Potential readthrough

    Included gene: TPCN2

    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 38

    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_001369201.2 → NP_001356130.1  small integral membrane protein 38

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the conserved protein.
      Source sequence(s)
      AP003071
      Consensus CDS
      CCDS91523.1
      UniProtKB/Swiss-Prot
      A0A286YFK9
      Related
      ENSP00000509996.1, ENST00000686237.1

    2. NM_001394169.1 → NP_001381098.1  small integral membrane protein 38

      Status: VALIDATED

      Source sequence(s)
      AP003071
      Consensus CDS
      CCDS91523.1
      UniProtKB/Swiss-Prot
      A0A286YFK9
      Related
      ENSP00000493332.1, ENST00000641568.1

    RNA

    1. NR_161183.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP003071

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      69155573..69162440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      69167904..69174769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A286YFK9.1 GenPept UniProtKB/Swiss-Prot:A0A286YFK9

    Gene LinkOut

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

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    Research Materials