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

    Gene ID: 57150, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 4.3), endometrium (RPKM 3.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/1215 screens)

    EBI GWAS Catalog

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

    Interactions

    General gene information

    Clone Names

    • DKFZp586E1923

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane  
    located_in mitochondrion PubMed 

    General protein information

    Preferred Names
    small integral membrane protein 8
    Names
    UPF0708 protein C6orf162

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001042493.3NP_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:1596
      DUF4500; Domain of unknown function (DUF4500)
    2. NM_001287445.2NP_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:1546
      DUF4500; Domain of unknown function (DUF4500)
    3. NM_020425.6NP_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:1596
      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)
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