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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)

Genotypes

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.

Molecular Biology Databases
Research Materials