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    SMIM23 small integral membrane protein 23 [ Homo sapiens (human) ]

    Gene ID: 644994, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SMIM23provided by HGNC
    Official Full Name
    small integral membrane protein 23provided by HGNC
    Primary source
    HGNC:HGNC:34440
    See related
    Ensembl:ENSG00000185662 AllianceGenome:HGNC:34440
    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
    C5orf50
    Summary
    Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 3.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See SMIM23 in Genome Data Viewer
    Location:
    5q35.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (171772637..171791136)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (172312952..172331444)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (171212821..171218140)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171042917-171043902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171045888-171046390 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171050255-171051075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171071283-171071784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171071785-171072284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171094673-171095251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171095252-171095829 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171106695-171107194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171125320-171125820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171125821-171126321 Neighboring gene uncharacterized LOC105377724 Neighboring gene uncharacterized LOC105377723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171177581-171178080 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:171207801-171209000 Neighboring gene uncharacterized LOC105377725 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:171221789-171222988 Neighboring gene Sharpr-MPRA regulatory region 9260 Neighboring gene uncharacterized LOC107986476

    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. A genome-wide association study identifies five loci influencing facial morphology in Europeans. Liu F, et al. PLoS Genet, 2012 Sep. PMID 23028347, Free PMC Article
    2. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Lowe JK, et al. PLoS Genet, 2009 Feb. PMID 19197348, Free PMC Article
    3. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. Greliche N, et al. BMC Med Genet, 2013 Mar 20. PMID 23509962, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    5. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Lango Allen H, et al. Nature, 2010 Oct 14. PMID 20881960, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    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 plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    small integral membrane protein 23
    Names
    CTB-78H18.1

    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_001289970.2 → NP_001276899.1  small integral membrane protein 23

      Status: VALIDATED

      Source sequence(s)
      AC011410, EG327678
      Consensus CDS
      CCDS87347.1
      UniProtKB/Swiss-Prot
      A6NLE4
      Related
      ENSP00000430818.4, ENST00000523047.4
      Conserved Domains (1) summary
      pfam15466
      Location:1 → 139
      DUF4635; Domain of unknown function (DUF4635)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      171772637..171791136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534624.2 → XP_011532926.1  small integral membrane protein 23 isoform X2

      See identical proteins and their annotated locations for XP_011532926.1

      Conserved Domains (1) summary
      pfam15466
      Location:14 → 105
      DUF4635; Domain of unknown function (DUF4635)

    2. XM_011534623.2 → XP_011532925.1  small integral membrane protein 23 isoform X2

      See identical proteins and their annotated locations for XP_011532925.1

      Conserved Domains (1) summary
      pfam15466
      Location:14 → 105
      DUF4635; Domain of unknown function (DUF4635)

    3. XM_011534622.1 → XP_011532924.1  small integral membrane protein 23 isoform X1

      Conserved Domains (1) summary
      pfam15466
      Location:1 → 144
      DUF4635; Domain of unknown function (DUF4635)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      172312952..172331444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353135.1 → XP_054209110.1  small integral membrane protein 23 isoform X2

    2. XM_054353134.1 → XP_054209109.1  small integral membrane protein 23 isoform X2

    3. XM_054353133.1 → XP_054209108.1  small integral membrane protein 23 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NLE4.3 GenPept UniProtKB/Swiss-Prot:A6NLE4

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