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    SMIM32 small integral membrane protein 32 [ Homo sapiens (human) ]

    Gene ID: 389332, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SMIM32provided by HGNC
    Official Full Name
    small integral membrane protein 32provided by HGNC
    Primary source
    HGNC:HGNC:53640
    See related
    Ensembl:ENSG00000271824 AllianceGenome:HGNC:53640
    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]
    Orthologs
    mouse all
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    Genomic context

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    See SMIM32 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (136191468..136193162, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (136713998..136715692, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (135527156..135528850, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene vault RNA 2-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16379 Neighboring gene SMAD5 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:135488895-135490094 Neighboring gene SMAD family member 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:135527733-135528647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:135528804-135529321 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:135537973-135538930 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:135538931-135539888 Neighboring gene TRPC7 antisense RNA 1 Neighboring gene TRPC7 antisense RNA 2 Neighboring gene transient receptor potential cation channel subfamily C member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:135586892-135587392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23180

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Downregulation of a novel long non-coding RNA, LOC389332, is associated with poor prognosis and tumor progression in clear cell renal cell carcinoma. Jin P, et al. Exp Ther Med, 2017 Mar. PMID 28450954, Free PMC Article
    2. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. Graubert TA, et al. PLoS One, 2009. PMID 19240791, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.
    Submit: New GeneRIF Correction

    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)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Clone Names

    • AC009014.3

    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 32

    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_001350994.2 → NP_001337923.1  small integral membrane protein 32

      Status: VALIDATED

      Source sequence(s)
      AC009014, BC048329
      Consensus CDS
      CCDS87324.1
      UniProtKB/Swiss-Prot
      A0A1B0GUA5
      Related
      ENSP00000490028.1, ENST00000607574.2

    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
      136191468..136193162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      136713998..136715692 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_024418.1: Suppressed sequence

      Description
      NR_024418.1: This RefSeq was removed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GUA5.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GUA5

    Gene LinkOut

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

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