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    SMIM8 small integral membrane protein 8 [ Homo sapiens (human) ]

    Gene ID: 57150, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SMIM8provided by HGNC
    Official Full Name
    small integral membrane protein 8provided by HGNC
    Primary source
    HGNC:HGNC:21401
    See related
    Ensembl:ENSG00000111850 AllianceGenome:HGNC:21401
    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
    C6orf162; dJ102H19.2
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 4.3), endometrium (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMIM8 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87322588..87342329)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88531398..88551191)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88032306..88052047)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901356 Neighboring gene gap junction protein beta 7 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17373 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88038054-88038740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88038741-88039425 Neighboring gene tigger transposable element derived 6 pseudogene Neighboring gene chromosome 6 open reading frame 163 Neighboring gene long intergenic non-protein coding RNA 1590

    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. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
    2. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
    3. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
    4. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp586E1923

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    small integral membrane protein 8
    Names
    UPF0708 protein C6orf162

    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_001042493.3 → NP_001035958.1  small integral membrane protein 8 isoform 1

      See identical proteins and their annotated locations for NP_001035958.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AI239454, AK311963, AL096817, BG534658
      Consensus CDS
      CCDS34496.1
      UniProtKB/Swiss-Prot
      B2R4V6, E1P505, Q5TEZ3, Q6NSD2, Q8IZ10, Q96KF7
      Related
      ENSP00000376603.1, ENST00000392863.6
      Conserved Domains (1) summary
      pfam14937
      Location:15 → 96
      DUF4500; Domain of unknown function (DUF4500)

    2. NM_001287445.2 → NP_001274374.1  small integral membrane protein 8 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI239454, AL096817, BF212252, BG534658
      Consensus CDS
      CCDS75493.1
      UniProtKB/TrEMBL
      V9GYF9
      Related
      ENSP00000476709.1, ENST00000608525.5
      Conserved Domains (1) summary
      pfam14937
      Location:15 → 46
      DUF4500; Domain of unknown function (DUF4500)

    3. NM_020425.6 → NP_065158.3  small integral membrane protein 8 isoform 1

      See identical proteins and their annotated locations for NP_065158.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AI239454, AL096817, BC070260, BG534658
      Consensus CDS
      CCDS34496.1
      UniProtKB/Swiss-Prot
      B2R4V6, E1P505, Q5TEZ3, Q6NSD2, Q8IZ10, Q96KF7
      Related
      ENSP00000229570.5, ENST00000229570.9
      Conserved Domains (1) summary
      pfam14937
      Location:15 → 96
      DUF4500; Domain of unknown function (DUF4500)

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      87322588..87342329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      88531398..88551191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KF7.2 GenPept UniProtKB/Swiss-Prot:Q96KF7

    Gene LinkOut

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

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