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    SLFN12L schlafen family member 12 like [ Homo sapiens (human) ]

    Gene ID: 100506736, updated on 17-Jun-2024

    Summary

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    Official Symbol
    SLFN12Lprovided by HGNC
    Official Full Name
    schlafen family member 12 likeprovided by HGNC
    Primary source
    HGNC:HGNC:33920
    See related
    Ensembl:ENSG00000205045 MIM:614956; AllianceGenome:HGNC:33920
    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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in spleen (RPKM 1.6), lymph node (RPKM 1.2) and 20 other tissues See more
    Orthologs
    all
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    Genomic context

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    See SLFN12L in Genome Data Viewer
    Location:
    17q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35464254..35537678, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36412245..36485638, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33791273..33864697, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene schlafen family member 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8437 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:33776099-33776600 and GRCh37_chr17:33776601-33777100 Neighboring gene adenylosuccinate synthase 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12072 Neighboring gene Sharpr-MPRA regulatory region 9708 Neighboring gene E2F transcription factor 3 pseudogene 1 Neighboring gene TATA-box binding protein associated factor 5 like pseudogene 1 Neighboring gene mitochondrial import receptor subunit TOM20 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12075 Neighboring gene uncharacterized LOC107985033 Neighboring gene schlafen family member 14 Neighboring gene ribosomal protein L39 pseudogene 32

    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. Schlafen 12 mediates the effects of butyrate and repetitive mechanical deformation on intestinal epithelial differentiation in human Caco-2 intestinal epithelial cells. Chaturvedi LS, et al. Hum Cell, 2019 Jul. PMID 30875077, Free PMC Article
    2. Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. Ferreira MA, et al. Am J Hum Genet, 2010 Jan. PMID 20045101, Free PMC Article
    3. Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. Kehrer-Sawatzki H, et al. J Med Genet, 2003 Oct. PMID 14569139, Free PMC Article
    4. Schlafen 4-expressing myeloid-derived suppressor cells are induced during murine gastric metaplasia. Ding L, et al. J Clin Invest, 2016 Aug 1. PMID 27427984, Free PMC Article
    5. Genome-wide association scan of trait depression. Terracciano A, et al. Biol Psychiatry, 2010 Nov 1. PMID 20800221, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Schlafen 12 (SLFN12) is a cytosolic protein that stimulates sucrase-isomaltase (SI) expression.
      Title: Schlafen 12 mediates the effects of butyrate and repetitive mechanical deformation on intestinal epithelial differentiation in human Caco-2 intestinal epithelial cells.
    2. in the stomachs of H. pylori-infected patients, the human SLFN4 ortholog SLFN12L colocalized to cells that expressed myeloid-derived suppressor cell surface markers CD15+CD33+HLA-DRlo
      Title: Schlafen 4-expressing myeloid-derived suppressor cells are induced during murine gastric metaplasia.
    3. 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.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association scan of trait depression.
    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

    • FLJ23922

    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
    schlafen family member 12-like

    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_001195790.3 → NP_001182719.2  schlafen family member 12-like isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC015911
      Consensus CDS
      CCDS56026.2
      UniProtKB/Swiss-Prot
      F5H6G3, Q6IEE8
      UniProtKB/TrEMBL
      A0A499FJ85
      Related
      ENSP00000437635.2, ENST00000260908.13
      Conserved Domains (1) summary
      PHA02782
      Location:17 → 341
      PHA02782; hypothetical protein; Provisional

    2. NM_001363830.2 → NP_001350759.2  schlafen family member 12-like isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC015911
      Consensus CDS
      CCDS86591.2
      UniProtKB/Swiss-Prot
      F5H6G3, Q6IEE8
      UniProtKB/TrEMBL
      A0A8I5QCZ1
      Related
      ENSP00000487397.4, ENST00000628453.4
      Conserved Domains (1) summary
      PHA02782
      Location:59 → 383
      PHA02782; hypothetical protein; Provisional

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      35464254..35537678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      36412245..36485638 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001145027.1: Suppressed sequence

      Description
      NM_001145027.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IEE8.4 GenPept UniProtKB/Swiss-Prot:Q6IEE8

    Gene LinkOut

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

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