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    SMIM13 small integral membrane protein 13 [ Homo sapiens (human) ]

    Gene ID: 221710, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SMIM13provided by HGNC
    Official Full Name
    small integral membrane protein 13provided by HGNC
    Primary source
    HGNC:HGNC:27356
    See related
    Ensembl:ENSG00000224531 AllianceGenome:HGNC:27356
    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
    C6orf228
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 20.9), placenta (RPKM 7.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMIM13 in Genome Data Viewer
    Location:
    6p24.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (11093834..11138733)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10961754..11006653)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (11094067..11138966)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ELOVL fatty acid elongase 2 Neighboring gene siah E3 ubiquitin protein ligase family member 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11045068-11045568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11045569-11046069 Neighboring gene ELOVL2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:11093674-11094214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:11094215-11094756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16910 Neighboring gene endogenous retrovirus group FRD member 1, envelope Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:11126939-11127440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23978 Neighboring gene Sharpr-MPRA regulatory region 2452 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:11185257-11186456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11189930-11190701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11190702-11191472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11195391-11196257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11196258-11197123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23979 Neighboring gene uncharacterized LOC124901256 Neighboring gene neural precursor cell expressed, developmentally down-regulated 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23980 Neighboring gene Sharpr-MPRA regulatory region 1219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23983 Neighboring gene uncharacterized LOC105374925 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11298822-11299579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23984

    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
    • 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 search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324
    2. 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
    3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
    4. 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

    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

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    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

    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 13
    Names
    UPF0766 protein C6orf228

    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_001135575.2 → NP_001129047.1  small integral membrane protein 13

      See identical proteins and their annotated locations for NP_001129047.1

      Status: VALIDATED

      Source sequence(s)
      AA724884, AL136139, BC032356
      Consensus CDS
      CCDS56396.1
      UniProtKB/Swiss-Prot
      G3V581, P0DJ93
      Related
      ENSP00000451866.1, ENST00000416247.4
      Conserved Domains (1) summary
      pfam15938
      Location:1 → 46
      DUF4750; Domain of unknown function (DUF4750)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      11093834..11138733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      10961754..11006653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DJ93.1 GenPept UniProtKB/Swiss-Prot:P0DJ93

    Gene LinkOut

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

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