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Aliases for SLAMF7 Gene

Aliases for SLAMF7 Gene

  • SLAM Family Member 7 2 3 3 5
  • Membrane Protein FOAP-12 3 4
  • CD2 Subset 1 3 4
  • Protein 19A 3 4
  • CRACC 3 4
  • CS1 3 4
  • Novel LY9 (Lymphocyte Antigen 9) Like Protein 3
  • CD2-Like Receptor Activating Cytotoxic Cells 3
  • CD2-Like Receptor-Activating Cytotoxic Cells 4
  • 19A24 Protein 3
  • CD319 Antigen 4
  • Novel Ly9 4
  • CD319 3
  • 19A 3

External Ids for SLAMF7 Gene

Previous GeneCards Identifiers for SLAMF7 Gene

  • GC01P157925
  • GC01P157522
  • GC01P158975
  • GC01P132065

Summaries for SLAMF7 Gene

GeneCards Summary for SLAMF7 Gene

SLAMF7 (SLAM Family Member 7) is a Protein Coding gene. Diseases associated with SLAMF7 include Myeloma, Multiple. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Innate Immune System. An important paralog of this gene is CD84.

UniProtKB/Swiss-Prot for SLAMF7 Gene

  • Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Isoform 1 mediates NK cell activation through a SH2D1A-independent extracellular signal-regulated ERK-mediated pathway (PubMed:11698418). Positively regulates NK cell functions by a mechanism dependent on phosphorylated SH2D1B. Downstream signaling implicates PLCG1, PLCG2 and PI3K (PubMed:16339536). In addition to heterotypic NK cells-target cells interactions also homotypic interactions between NK cells may contribute to activation. However, in the absence of SH2D1B, inhibits NK cell function. Acts also inhibitory in T-cells (By similarity). May play a role in lymphocyte adhesion (PubMed:11802771). In LPS-activated monocytes negatively regulates production of proinflammatory cytokines (PubMed:23695528).

  • Isoform 3 does not mediate any NK cell activation.

Gene Wiki entry for SLAMF7 Gene

Additional gene information for SLAMF7 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLAMF7 Gene

Genomics for SLAMF7 Gene

GeneHancer (GH) Regulatory Elements for SLAMF7 Gene

Promoters and enhancers for SLAMF7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J160738 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 688.7 +3.1 3087 8 HDGF PKNOX1 SMAD1 ZNF133 BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 SLAMF7 FCER1G CD48 CD244 ARHGAP30 COPA ENSG00000275801
GH01J160736 Enhancer 0.4 dbSUPER 650.7 -1.9 -1947 0.9 KLF5 SETDB1 GC01P160735 SLAMF7
GH01J160703 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 49.3 -29.5 -29516 11.8 HDGF PKNOX1 SMAD1 STAT5A KLF5 IRF4 ZNF207 ATF7 ETV6 BCLAF1 CD48 SLAMF7 CD244 DEDD NCSTN ENSG00000228863 SLAMF1 LY9 LINC01133 ENSG00000256029
GH01J160766 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 40 +28.8 28800 2.4 HDGF PKNOX1 ATF1 STAT5A BATF IRF4 RAD21 ZNF143 ATF7 BCLAF1 SLAMF7 CD244 LY9 ENSG00000228863 ITLN1 SLAMF1 CD48 FCER1G ENSG00000275801
GH01J160726 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 28.2 -12.3 -12256 1.6 HDGF SMAD1 YBX1 IRF4 YY1 POLR2B ZNF766 ZNF213 ZNF143 ZNF207 SLAMF7 LY9 ENSG00000228863 ITLN1 DEDD NCSTN B4GALT3 SLAMF1 ENSG00000256029 CD48
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLAMF7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLAMF7 gene promoter:

Genomic Locations for SLAMF7 Gene

Genomic Locations for SLAMF7 Gene
chr1:160,739,057-160,754,821
(GRCh38/hg38)
Size:
15,765 bases
Orientation:
Plus strand
chr1:160,709,037-160,724,611
(GRCh37/hg19)

Genomic View for SLAMF7 Gene

Genes around SLAMF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLAMF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLAMF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLAMF7 Gene

Proteins for SLAMF7 Gene

  • Protein details for SLAMF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ25-SLAF7_HUMAN
    Recommended name:
    SLAM family member 7
    Protein Accession:
    Q9NQ25
    Secondary Accessions:
    • A8K3U1
    • B4DPU4
    • B4DPY3
    • B4DWA3
    • Q8N6Y8
    • Q8ND32
    • Q9NY08
    • Q9NY23

    Protein attributes for SLAMF7 Gene

    Size:
    335 amino acids
    Molecular mass:
    37421 Da
    Quaternary structure:
    • Isoform 1 binds to SH2D1A when its cytoplasmic tail is phosphorylated in the presence of FYN (in vitro); low affinity binding, the physiological relevance of the interaction is questioned. Interacts with SH2D1B; in NK cells (PubMed:16339536). Interacts (via ITSM phosphorylated on Tyr-302) with SH2D1B, PTPN6/SHP-1, PTPN11/SHP-2, INPP5D/SHIP1, CSK and FYN (By similarity).
    Miscellaneous:
    • Proposed to be involved in systemic lupus erythematosus (SLE) disease process.
    SequenceCaution:
    • Sequence=CAB76561.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for SLAMF7 Gene

neXtProt entry for SLAMF7 Gene

Post-translational modifications for SLAMF7 Gene

  • Glycosylation at posLast=204204, posLast=176176, isoforms=2, 3, 5, 7172, posLast=148148, posLast=142142, and posLast=9898
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLAMF7 Gene

Domains & Families for SLAMF7 Gene

Gene Families for SLAMF7 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for SLAMF7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NQ25

UniProtKB/Swiss-Prot:

SLAF7_HUMAN :
  • The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain-containing binding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. A three-pronged mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3).
Domain:
  • The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain-containing binding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. A three-pronged mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3).
genes like me logo Genes that share domains with SLAMF7: view

Function for SLAMF7 Gene

Molecular function for SLAMF7 Gene

UniProtKB/Swiss-Prot Function:
Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Isoform 1 mediates NK cell activation through a SH2D1A-independent extracellular signal-regulated ERK-mediated pathway (PubMed:11698418). Positively regulates NK cell functions by a mechanism dependent on phosphorylated SH2D1B. Downstream signaling implicates PLCG1, PLCG2 and PI3K (PubMed:16339536). In addition to heterotypic NK cells-target cells interactions also homotypic interactions between NK cells may contribute to activation. However, in the absence of SH2D1B, inhibits NK cell function. Acts also inhibitory in T-cells (By similarity). May play a role in lymphocyte adhesion (PubMed:11802771). In LPS-activated monocytes negatively regulates production of proinflammatory cytokines (PubMed:23695528).
UniProtKB/Swiss-Prot Function:
Isoform 3 does not mediate any NK cell activation.

Phenotypes From GWAS Catalog for SLAMF7 Gene

Gene Ontology (GO) - Molecular Function for SLAMF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IPI 15153464
genes like me logo Genes that share ontologies with SLAMF7: view
genes like me logo Genes that share phenotypes with SLAMF7: view

Animal Models for SLAMF7 Gene

MGI Knock Outs for SLAMF7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLAMF7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLAMF7 Gene

Localization for SLAMF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLAMF7 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLAMF7 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLAMF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLAMF7: view

Pathways & Interactions for SLAMF7 Gene

genes like me logo Genes that share pathways with SLAMF7: view

Pathways by source for SLAMF7 Gene

Gene Ontology (GO) - Biological Process for SLAMF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0007155 cell adhesion NAS 11802771
GO:0030101 natural killer cell activation NAS 11698418
GO:0042267 natural killer cell mediated cytotoxicity NAS 11698418
genes like me logo Genes that share ontologies with SLAMF7: view

No data available for SIGNOR curated interactions for SLAMF7 Gene

Drugs & Compounds for SLAMF7 Gene

(1) Drugs for SLAMF7 Gene - From: DrugBank and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Elotuzumab Approved Pharma Target, modulator 0
genes like me logo Genes that share compounds with SLAMF7: view

Transcripts for SLAMF7 Gene

Unigene Clusters for SLAMF7 Gene

SLAM family member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLAMF7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLAMF7 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - -
SP11:
SP12: - -
SP13: - - - -

Relevant External Links for SLAMF7 Gene

GeneLoc Exon Structure for
SLAMF7
ECgene alternative splicing isoforms for
SLAMF7

Expression for SLAMF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLAMF7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLAMF7 Gene

This gene is overexpressed in Whole Blood (x6.4) and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for SLAMF7 Gene

This gene is overexpressed in Plasma (59.8) and Pancreatic juice (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLAMF7 Gene



Protein tissue co-expression partners for SLAMF7 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLAMF7 Gene:

SLAMF7

SOURCE GeneReport for Unigene cluster for SLAMF7 Gene:

Hs.517265

mRNA Expression by UniProt/SwissProt for SLAMF7 Gene:

Q9NQ25-SLAF7_HUMAN
Tissue specificity: Expressed in spleen, lymph node, peripheral blood leukocytes, bone marrow, small intestine, stomach, appendix, lung and trachea. Expression was detected in NK cells, activated B-cells, NK-cell line but not in promyelocytic, B-, or T-cell lines. Expressed in monocytes. Isoform 3 is expressed at much lower level than isoform 1.

Evidence on tissue expression from TISSUES for SLAMF7 Gene

  • Lymph node(4.4)
  • Spleen(4.4)
  • Lung(4.2)
  • Blood(3.4)
  • Bone marrow(2.2)
genes like me logo Genes that share expression patterns with SLAMF7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLAMF7 Gene

Orthologs for SLAMF7 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SLAMF7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLAMF7 34 33
  • 98.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLAMF7 34 33
  • 76.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLAMF7 34 33
  • 75.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slamf7 16 34 33
  • 67.68 (n)
rat
(Rattus norvegicus)
Mammalia Slamf7 33
  • 66.98 (n)
oppossum
(Monodelphis domestica)
Mammalia SLAMF7 34
  • 26 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 24 (a)
ManyToMany
Species where no ortholog for SLAMF7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SLAMF7 Gene

ENSEMBL:
Gene Tree for SLAMF7 (if available)
TreeFam:
Gene Tree for SLAMF7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLAMF7: view image

Paralogs for SLAMF7 Gene

Paralogs for SLAMF7 Gene

(3) SIMAP similar genes for SLAMF7 Gene using alignment to 7 proteins:

  • SLAF7_HUMAN
  • A8K3U1_HUMAN
  • B4DPU4_HUMAN
  • B4DPY3_HUMAN
  • B4DVL7_HUMAN
  • B4DWA3_HUMAN
  • R4GND0_HUMAN

Pseudogenes.org Pseudogenes for SLAMF7 Gene

genes like me logo Genes that share paralogs with SLAMF7: view

Variants for SLAMF7 Gene

Sequence variations from dbSNP and Humsavar for SLAMF7 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000148474 -- 160,753,860(+) T/C 3_prime_UTR_variant
rs1000518232 -- 160,750,765(+) C/A intron_variant
rs1000831401 -- 160,751,002(+) T/G intron_variant
rs1000924867 -- 160,746,028(+) C/T intron_variant
rs1000934181 -- 160,744,928(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLAMF7 Gene

Variant ID Type Subtype PubMed ID
esv3575008 CNV gain 25503493
nsv831714 CNV gain 17160897

Variation tolerance for SLAMF7 Gene

Residual Variation Intolerance Score: 77.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLAMF7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLAMF7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLAMF7 Gene

Disorders for SLAMF7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLAMF7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myeloma, multiple
  • multiple myeloma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLAMF7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLAMF7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLAMF7 Gene

Publications for SLAMF7 Gene

  1. A novel immunoglobulin superfamily receptor (19A) related to CD2 is expressed on activated lymphocytes and promotes homotypic B-cell adhesion. (PMID: 11802771) Murphy JJ … Norton JD (The Biochemical journal 2002) 2 3 4 22 58
  2. Molecular and functional characterization of a CS1 (CRACC) splice variant expressed in human NK cells that does not contain immunoreceptor tyrosine-based switch motifs. (PMID: 15368295) Lee JK … Mathew PA (European journal of immunology 2004) 3 4 22 58
  3. Mouse novel Ly9: a new member of the expanding CD150 (SLAM) family of leukocyte cell-surface receptors. (PMID: 12242590) Tovar V … Engel P (Immunogenetics 2002) 3 4 22 58
  4. Molecular cloning of CS1, a novel human natural killer cell receptor belonging to the CD2 subset of the immunoglobulin superfamily. (PMID: 11220635) Boles KS … Mathew PA (Immunogenetics 2001) 2 3 4 58
  5. Activation of NK cell-mediated cytotoxicity by a SAP-independent receptor of the CD2 family. (PMID: 11698418) Bouchon A … Colonna M (Journal of immunology (Baltimore, Md. : 1950) 2001) 3 4 22 58

Products for SLAMF7 Gene

Sources for SLAMF7 Gene

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