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Aliases for SLAMF6 Gene

Aliases for SLAMF6 Gene

  • SLAM Family Member 6 2 3 5
  • Activating NK Receptor 3 4
  • NK-T-B-Antigen 3 4
  • NTB-A 3 4
  • KALI 3 4
  • Natural Killer-, T- And B-Cell Antigen 3
  • NTBA Receptor 3
  • CD352 Antigen 4
  • SF2000 3
  • CD352 3
  • KALIb 3
  • Ly108 3
  • NTBA 3

External Ids for SLAMF6 Gene

Previous GeneCards Identifiers for SLAMF6 Gene

  • GC01M157671
  • GC01M157267
  • GC01M158721
  • GC01M131811

Summaries for SLAMF6 Gene

Entrez Gene Summary for SLAMF6 Gene

  • The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]

GeneCards Summary for SLAMF6 Gene

SLAMF6 (SLAM Family Member 6) is a Protein Coding gene. Diseases associated with SLAMF6 include bare lymphocyte syndrome, type i and griscelli syndrome. Among its related pathways are IgA-Producing B Cells in the Intestine and Natural Killer Cell Receptors: Human Target Cell ?�� NK Cell Ligand-Receptor Interactions. GO annotations related to this gene include receptor activity. An important paralog of this gene is CD84.

UniProtKB/Swiss-Prot for SLAMF6 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. Triggers cytolytic activity only in natural killer cells (NK) expressing high surface densities of natural cytotoxicity receptors (PubMed:11489943, PubMed:16920955). Positive signaling in NK cells implicates phosphorylation of VAV1. NK cell activation seems to depend on SH2D1B and not on SH2D1A (PubMed:16920955). In conjunction with SLAMF1 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage (By similarity). Promotes T-cell differentiation into a helper T-cell Th17 phenotype leading to increased IL-17 secretion; the costimulatory activity requires SH2D1A (PubMed:22184727, PubMed:16920955). Promotes recruitment of RORC to the IL-17 promoter (PubMed:22989874). In conjunction with SLAMF1 and CD84/SLAMF5 may be a negative regulator of the humoral immune response. In the absence of SH2D1A/SAP can transmit negative signals to CD4(+) T-cells and NKT cells. Negatively regulates germinal center formation by inhibiting T-cell:B-cell adhesion; the function probably implicates increased association with PTPN6/SHP-1 via ITSMs in absence of SH2D1A/SAP. However, reported to be involved in maintaining B-cell tolerance in germinal centers and in preventing autoimmunity (By similarity).

Gene Wiki entry for SLAMF6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLAMF6 Gene

Genomics for SLAMF6 Gene

Regulatory Elements for SLAMF6 Gene

Enhancers for SLAMF6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLAMF6 on UCSC Golden Path with GeneCards custom track

Promoters for SLAMF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLAMF6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLAMF6 Gene

Chromosome:
1
Start:
160,485,030 bp from pter
End:
160,523,262 bp from pter
Size:
38,233 bases
Orientation:
Minus strand

Genomic View for SLAMF6 Gene

Genes around SLAMF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLAMF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLAMF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLAMF6 Gene

Proteins for SLAMF6 Gene

  • Protein details for SLAMF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DU3-SLAF6_HUMAN
    Recommended name:
    SLAM family member 6
    Protein Accession:
    Q96DU3
    Secondary Accessions:
    • A6NMW2
    • B2R8X8
    • Q14CF0
    • Q5TAS4
    • Q5TAS6
    • Q5TAT3
    • Q96DV0

    Protein attributes for SLAMF6 Gene

    Size:
    332 amino acids
    Molecular mass:
    37345 Da
    Quaternary structure:
    • Homodimer. Interacts with PTN6. Interacts (phosphorylated) with PTN11. Interacts (phosphorylated on tyrosine residues) with SH2D1A/SAP and SH2D1B/EAT2; SH2D1A and SH2D1B can associate with the same SLAMF6 molecule; interaction with SH2D1B is mediated by ITSM 2.

    Three dimensional structures from OCA and Proteopedia for SLAMF6 Gene

    Alternative splice isoforms for SLAMF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLAMF6 Gene

Proteomics data for SLAMF6 Gene at MOPED

Post-translational modifications for SLAMF6 Gene

  • Phosphorylation in NK cells upon engagment by SLAMF6-expressing target cells is leading to receptor activation.
  • Glycosylation at Asn 58, Asn 87, Asn 137, Asn 144, Asn 161, Asn 171, Asn 178, and Asn 203
  • Modification sites at PhosphoSitePlus

Other Protein References for SLAMF6 Gene

Antibody Products

  • R&D Systems Antibodies for SLAMF6 (NTB-A/SLAMF6)

No data available for DME Specific Peptides for SLAMF6 Gene

Domains & Families for SLAMF6 Gene

Protein Domains for SLAMF6 Gene

Graphical View of Domain Structure for InterPro Entry

Q96DU3

UniProtKB/Swiss-Prot:

SLAF6_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-containingbinding partners. Especially they mediate the with the SH2 domain of SH2D1A and SH2D1B. A two-out-of-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-containingbinding partners. Especially they mediate the with the SH2 domain of SH2D1A and SH2D1B. A two-out-of-three-pronged mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3).
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with SLAMF6: view

Function for SLAMF6 Gene

Molecular function for SLAMF6 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. Triggers cytolytic activity only in natural killer cells (NK) expressing high surface densities of natural cytotoxicity receptors (PubMed:11489943, PubMed:16920955). Positive signaling in NK cells implicates phosphorylation of VAV1. NK cell activation seems to depend on SH2D1B and not on SH2D1A (PubMed:16920955). In conjunction with SLAMF1 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage (By similarity). Promotes T-cell differentiation into a helper T-cell Th17 phenotype leading to increased IL-17 secretion; the costimulatory activity requires SH2D1A (PubMed:22184727, PubMed:16920955). Promotes recruitment of RORC to the IL-17 promoter (PubMed:22989874). In conjunction with SLAMF1 and CD84/SLAMF5 may be a negative regulator of the humoral immune response. In the absence of SH2D1A/SAP can transmit negative signals to CD4(+) T-cells and NKT cells. Negatively regulates germinal center formation by inhibiting T-cell:B-cell adhesion; the function probably implicates increased association with PTPN6/SHP-1 via ITSMs in absence of SH2D1A/SAP. However, reported to be involved in maintaining B-cell tolerance in germinal centers and in preventing autoimmunity (By similarity).
genes like me logo Genes that share phenotypes with SLAMF6: view

Animal Models for SLAMF6 Gene

MGI Knock Outs for SLAMF6:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLAMF6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLAMF6 Gene

Localization for SLAMF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLAMF6 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLAMF6 Gene COMPARTMENTS Subcellular localization image for SLAMF6 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLAMF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with SLAMF6: view

Pathways & Interactions for SLAMF6 Gene

genes like me logo Genes that share pathways with SLAMF6: view

Gene Ontology (GO) - Biological Process for SLAMF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001779 natural killer cell differentiation IEA --
GO:0032729 positive regulation of interferon-gamma production IMP 16920955
GO:0032740 positive regulation of interleukin-17 production IDA 22184727
GO:0050776 regulation of immune response TAS --
GO:0072540 T-helper 17 cell lineage commitment IDA 22184727
genes like me logo Genes that share ontologies with SLAMF6: view

No data available for SIGNOR curated interactions for SLAMF6 Gene

Drugs & Compounds for SLAMF6 Gene

(1) Drugs for SLAMF6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SLAMF6: view

Transcripts for SLAMF6 Gene

Unigene Clusters for SLAMF6 Gene

SLAM family member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLAMF6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: -
SP2: -
SP3: -
SP4: - - -
SP5: -

Relevant External Links for SLAMF6 Gene

GeneLoc Exon Structure for
SLAMF6
ECgene alternative splicing isoforms for
SLAMF6

Expression for SLAMF6 Gene

mRNA expression in normal human tissues for SLAMF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLAMF6 Gene

This gene is overexpressed in Whole Blood (x13.3) and Spleen (x8.0).

Protein differential expression in normal tissues from HIPED for SLAMF6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (35.3), CD8 Tcells (13.3), and Lymph node (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLAMF6 Gene



SOURCE GeneReport for Unigene cluster for SLAMF6 Gene Hs.492348

mRNA Expression by UniProt/SwissProt for SLAMF6 Gene

Q96DU3-SLAF6_HUMAN
Tissue specificity: Expressed by all (resting and activated) natural killer cells (NK), T- and B-lymphocytes (PubMed:11489943). Increased surface expression on T-cells of systemic lupus erythematosus (SLE) patients (PubMed:22184727).
genes like me logo Genes that share expression patterns with SLAMF6: view

Protein tissue co-expression partners for SLAMF6 Gene

- Elite partner

Primer Products

Orthologs for SLAMF6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SLAMF6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLAMF6 35
  • 71.63 (n)
  • 55.34 (a)
SLAMF6 36
  • 51 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLAMF6 35
  • 66.98 (n)
  • 47.83 (a)
SLAMF6 36
  • 47 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slamf6 35
  • 64.6 (n)
  • 47.23 (a)
Slamf6 16
Slamf6 36
  • 41 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLAMF6 35
  • 98.69 (n)
  • 97.28 (a)
SLAMF6 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slamf6 35
  • 65.21 (n)
  • 46.25 (a)
oppossum
(Monodelphis domestica)
Mammalia SLAMF6 36
  • 27 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 22 (a)
ManyToMany
Species with no ortholog for SLAMF6:
  • 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 SLAMF6 Gene

ENSEMBL:
Gene Tree for SLAMF6 (if available)
TreeFam:
Gene Tree for SLAMF6 (if available)

Paralogs for SLAMF6 Gene

Paralogs for SLAMF6 Gene

Pseudogenes.org Pseudogenes for SLAMF6 Gene

genes like me logo Genes that share paralogs with SLAMF6: view

Variants for SLAMF6 Gene

Sequence variations from dbSNP and Humsavar for SLAMF6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs480348 -- 160,499,433(+) gtgta(A/C)cggta intron-variant
rs614136 -- 160,497,606(+) atagg(C/T)agtta intron-variant
rs634791 -- 160,485,319(-) atccc(A/T)gtact utr-variant-3-prime
rs723155 -- 160,501,046(-) tgttt(C/T)ggggc intron-variant
rs678456 -- 160,494,758(-) CTCCC(A/G)GCTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLAMF6 Gene

Variant ID Type Subtype PubMed ID
nsv872491 CNV Loss 21882294

Variation tolerance for SLAMF6 Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLAMF6 Gene

HapMap Linkage Disequilibrium report
SLAMF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLAMF6 Gene

Disorders for SLAMF6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLAMF6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type i
  • bare lymphocyte syndrome, type i, due to tap2 deficiency
griscelli syndrome
  • gs
systemic lupus erythematosus
  • lupus nephritis
ovarian cystic teratoma
mature teratoma of the ovary
  • mature teratoma of ovary
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLAMF6

Genetic Association Database (GAD)
SLAMF6
Human Genome Epidemiology (HuGE) Navigator
SLAMF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLAMF6
genes like me logo Genes that share disorders with SLAMF6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLAMF6 Gene

Publications for SLAMF6 Gene

  1. NTB-A, a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked Lymphoproliferative disease. (PMID: 11489943) Bottino C. … Moretta A. (J. Exp. Med. 2001) 2 3 4 23 67
  2. NTB-A receptor crystal structure: insights into homophilic interactions in the signaling lymphocytic activation molecule receptor family. (PMID: 17045824) Cao E. … Almo S.C. (Immunity 2006) 3 23
  3. Functional requirements for interactions between CD84 and Src homology 2 domain-containing proteins and their contribution to human T cell activation. (PMID: 12928397) Tangye S.G. … van de Weerdt B.C.M. (J. Immunol. 2003) 3 23
  4. Impacts of humanized mouse models on the investigation of HIV-1 infection: illuminating the roles of viral accessory proteins in vivo. (PMID: 25807049) Yamada E. … Sato K. (Viruses 2015) 3
  5. Immune evasion activities of accessory proteins Vpu, Nef and Vif are conserved in acute and chronic HIV-1 infection. (PMID: 25827531) Mlcochova P. … Gupta R.K. (Virology 2015) 3

Products for SLAMF6 Gene

Sources for SLAMF6 Gene

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