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    SLAMF8 SLAM family member 8 [ Homo sapiens (human) ]

    Gene ID: 56833, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLAMF8provided by HGNC
    Official Full Name
    SLAM family member 8provided by HGNC
    Primary source
    HGNC:HGNC:21391
    See related
    Ensembl:ENSG00000158714 MIM:606620; AllianceGenome:HGNC:21391
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BLAME; CD353; SBBI42
    Summary
    This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in appendix (RPKM 13.5), lymph node (RPKM 12.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLAMF8 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159826873..159837492)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (158963866..158974492)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159796663..159807282)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:159751068-159751644 Neighboring gene dual specificity phosphatase 23 Neighboring gene CRISPRi-validated cis-regulatory element chr1.9322 Neighboring gene Sharpr-MPRA regulatory region 9392 Neighboring gene uncharacterized LOC105371464 Neighboring gene Fc receptor like 6 Neighboring gene small nucleolar RNA host gene 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159815652-159816152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159816153-159816653 Neighboring gene small nucleolar RNA SNORD64 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1455 Neighboring gene uncharacterized LOC107985216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159830948-159831862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159831863-159832775 Neighboring gene V-set and immunoglobulin domain containing 8

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLAMF8 can predict prognosis of pan-cancer and the immunotherapy response effectivity of gastric cancer.
      Title: SLAMF8 can predict prognosis of pan-cancer and the immunotherapy response effectivity of gastric cancer.
    2. Upregulation of SLAMF8 aggravates ischemia/reperfusion-induced ferroptosis and injury in cardiomyocyte.
      Title: Upregulation of SLAMF8 aggravates ischemia/reperfusion-induced ferroptosis and injury in cardiomyocyte.
    3. SLAMF8 promotes the proliferation and migration of synovial fibroblasts by regulating the ERK/MMPs signalling pathway.
      Title: SLAMF8 promotes the proliferation and migration of synovial fibroblasts by regulating the ERK/MMPs signalling pathway.
    4. Knockout of SLAMF8 attenuates collagen-induced rheumatoid arthritis in mice through inhibiting TLR4/NF-kappaB signaling pathway.
      Title: Knockout of SLAMF8 attenuates collagen-induced rheumatoid arthritis in mice through inhibiting TLR4/NF-κB signaling pathway.
    5. SLAMF8 Participates in Acute Renal Transplant Rejection via TLR4 Pathway on Pro-Inflammatory Macrophages.
      Title: SLAMF8 Participates in Acute Renal Transplant Rejection via TLR4 Pathway on Pro-Inflammatory Macrophages.
    6. SLAM family member 8 is expressed in and enhances the growth of anaplastic large cell lymphoma.
      Title: SLAM family member 8 is expressed in and enhances the growth of anaplastic large cell lymphoma.
    7. Thus, SLAMF8 is involved in oncogenic KIT-mediated RAS-RAF- ERK signalling and the subsequent growth of human neoplastic mast cells mediated by SHP-2.
      Title: SLAM family member 8 is involved in oncogenic KIT-mediated signalling in human mastocytosis.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20442, MGC129578

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in B-1 B cell lineage commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    acts_upstream_of_or_within defense response to bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within leukocyte chemotaxis involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of dendritic cell chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of macrophage chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of monocyte chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of neutrophil migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within negative regulation of respiratory burst involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within phagosome acidification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of NAD(P)H oxidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within regulation of kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    SLAM family member 8
    Names
    B lymphocyte activator macrophage expressed
    BCM-like membrane protein

    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_001330741.2 → NP_001317670.1  SLAM family member 8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL590560
      Consensus CDS
      CCDS81387.1
      UniProtKB/Swiss-Prot
      Q9P0V8
      Related
      ENSP00000357084.4, ENST00000368104.4

    2. NM_020125.3 → NP_064510.1  SLAM family member 8 isoform 1 precursor

      See identical proteins and their annotated locations for NP_064510.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF146761
      Consensus CDS
      CCDS1188.1
      UniProtKB/Swiss-Prot
      Q32MC6, Q5VU15, Q9P0V8
      Related
      ENSP00000289707.5, ENST00000289707.10

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      159826873..159837492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001845.3 → XP_016857334.1  SLAM family member 8 isoform X6

    2. XM_011509775.3 → XP_011508077.1  SLAM family member 8 isoform X1

    3. XM_005245345.4 → XP_005245402.1  SLAM family member 8 isoform X3

    4. XM_011509776.3 → XP_011508078.1  SLAM family member 8 isoform X2

    5. XM_017001846.2 → XP_016857335.1  SLAM family member 8 isoform X7

    6. XM_011509778.3 → XP_011508080.1  SLAM family member 8 isoform X5

    7. XM_011509779.3 → XP_011508081.1  SLAM family member 8 isoform X8

    8. XM_011509777.4 → XP_011508079.1  SLAM family member 8 isoform X4

    9. XM_017001844.3 → XP_016857333.1  SLAM family member 8 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      158963866..158974492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337742.1 → XP_054193717.1  SLAM family member 8 isoform X1

    2. XM_054337744.1 → XP_054193719.1  SLAM family member 8 isoform X3

    3. XM_054337743.1 → XP_054193718.1  SLAM family member 8 isoform X2

    4. XM_054337747.1 → XP_054193722.1  SLAM family member 8 isoform X5

    5. XM_054337750.1 → XP_054193725.1  SLAM family member 8 isoform X8

    6. XM_054337748.1 → XP_054193723.1  SLAM family member 8 isoform X6

    7. XM_054337749.1 → XP_054193724.1  SLAM family member 8 isoform X7

    8. XM_054337745.1 → XP_054193720.1  SLAM family member 8 isoform X4

    9. XM_054337746.1 → XP_054193721.1  SLAM family member 8 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0V8.1 GenPept UniProtKB/Swiss-Prot:Q9P0V8

    Gene LinkOut

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

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