Aliases for IGSF6 Gene

Aliases for IGSF6 Gene

  • Immunoglobulin Superfamily Member 6 2 3 4 5
  • DORA 2 3 4
  • Down-Regulated By Activation (Immunoglobulin Superfamily) 3
  • Immunoglobulin Superfamily, Member 6 2
  • Protein DORA 4
  • IGSF6 5
  • IgSF6 4

External Ids for IGSF6 Gene

Previous GeneCards Identifiers for IGSF6 Gene

  • GC16M021060
  • GC16M021661
  • GC16M021619
  • GC16M021560
  • GC16M021652
  • GC16M020034

Summaries for IGSF6 Gene

GeneCards Summary for IGSF6 Gene

IGSF6 (Immunoglobulin Superfamily Member 6) is a Protein Coding gene. Diseases associated with IGSF6 include Inflammatory Bowel Disease 1 and Dysbaric Osteonecrosis. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGSF6 Gene

Genomics for IGSF6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGSF6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J021644 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 619 +4.0 3998 9.2 SP1 TFE3 BACH1 PRDM1 RELA RXRB IRF2 IKZF2 RCOR1 TRIM22 IGSF6 KY994046 METTL9 ENSG00000260905 ENSG00000260973 CRYM
GH16J021652 Promoter/Enhancer 0.5 Ensembl dbSUPER 600.7 -1.3 -1293 0.6 IGSF6 ENSG00000260905 piR-43164-022 OTOA METTL9
GH16J021597 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.9 +51.7 51679 7.3 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 SIX5 SOX13 METTL9 LOC101927814 NPIPB5 NPIPB4 NPIPB3 THUMPD1 IGSF6 ENSG00000260306 MFSD13B RRN3P1
GH16J021612 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 28.7 +40.6 40602 3.2 LEF1 JUND DDX20 POLR2A DPF2 HDAC1 SOX6 FOXJ2 TCF12 EP300 IGSF6 NPIPB4 NPIPB5 SMG1P4 SMG1P1 RNU6-1005P RNU6-196P NPIPB3 SMG1P3 ENSG00000260635
GH16J021624 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.6 +23.8 23816 8.8 GATAD2A ATF7 ZNF629 TFE3 NFKBIZ ZNF776 RXRB IKZF2 GABPA ZNF600 METTL9 IGSF6 ENSG00000260905 ERI2 NPIPB3 NPIPB5 ENSG00000260306 MOSMO NPIPB4 MFSD13B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGSF6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IGSF6

Top Transcription factor binding sites by QIAGEN in the IGSF6 gene promoter:
  • AML1a
  • GCNF
  • GCNF-1
  • HOXA3
  • Ik-2
  • Nkx2-5
  • RORalpha1
  • RORalpha2
  • Sox5

Genomic Locations for IGSF6 Gene

Genomic Locations for IGSF6 Gene
13,059 bases
Minus strand
11,376 bases
Minus strand

Genomic View for IGSF6 Gene

Genes around IGSF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGSF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGSF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGSF6 Gene

Proteins for IGSF6 Gene

  • Protein details for IGSF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Immunoglobulin superfamily member 6
    Protein Accession:
    Secondary Accessions:
    • Q8WWD8

    Protein attributes for IGSF6 Gene

    241 amino acids
    Molecular mass:
    27013 Da
    Quaternary structure:
    No Data Available
    • This gene is localized to a locus associated with inflammatory bowel disease. It is coded entirely within the intron of METTL9 which is transcribed in the opposite strand of the DNA.

neXtProt entry for IGSF6 Gene

Post-translational modifications for IGSF6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IGSF6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IGSF6 Gene

Domains & Families for IGSF6 Gene

Gene Families for IGSF6 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for IGSF6 Gene

Suggested Antigen Peptide Sequences for IGSF6 Gene

GenScript: Design optimal peptide antigens:
  • Protein DORA (IGSF6_HUMAN)
genes like me logo Genes that share domains with IGSF6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGSF6 Gene

Function for IGSF6 Gene

Molecular function for IGSF6 Gene

UniProtKB/Swiss-Prot Induction:
By TNF and CSF2/GM-CSF in dendritic cells and down regulation by phorbol myristate acetate (PMA) and ionomycin in monocytes.

Phenotypes From GWAS Catalog for IGSF6 Gene

Gene Ontology (GO) - Molecular Function for IGSF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 9809579
genes like me logo Genes that share ontologies with IGSF6: view
genes like me logo Genes that share phenotypes with IGSF6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for IGSF6

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGSF6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IGSF6 Gene

Localization for IGSF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGSF6 Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

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 IGSF6 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IGSF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9809579
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IGSF6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IGSF6 Gene

Pathways & Interactions for IGSF6 Gene

PathCards logo

SuperPathways for IGSF6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IGSF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response TAS 9809579
GO:0007166 cell surface receptor signaling pathway TAS 9809579
genes like me logo Genes that share ontologies with IGSF6: view

No data available for Pathways by source and SIGNOR curated interactions for IGSF6 Gene

Drugs & Compounds for IGSF6 Gene

No Compound Related Data Available

Transcripts for IGSF6 Gene

mRNA/cDNA for IGSF6 Gene

8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGSF6

Alternative Splicing Database (ASD) splice patterns (SP) for IGSF6 Gene

No ASD Table

Relevant External Links for IGSF6 Gene

GeneLoc Exon Structure for

Expression for IGSF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IGSF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGSF6 Gene

This gene is overexpressed in Whole Blood (x38.3) and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for IGSF6 Gene

This gene is overexpressed in Monocytes (60.9) and Spleen (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGSF6 Gene

Protein tissue co-expression partners for IGSF6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGSF6

SOURCE GeneReport for Unigene cluster for IGSF6 Gene:


mRNA Expression by UniProt/SwissProt for IGSF6 Gene:

Tissue specificity: Expressed in peripheral blood lymphocytes, spleen and lymph node, with low levels in thymus, bone marrow and fetal liver. No expression in non-immune tissues.

Evidence on tissue expression from TISSUES for IGSF6 Gene

  • Lung(4.3)
  • Blood(2.7)
  • Spleen(2.7)
  • Nervous system(2.2)
  • Lymph node(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with IGSF6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IGSF6 Gene

Orthologs for IGSF6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGSF6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IGSF6 30 31
  • 99.17 (n)
(Rattus norvegicus)
Mammalia Igsf6 30
  • 77.73 (n)
(Canis familiaris)
Mammalia IGSF6 30 31
  • 76.53 (n)
(Mus musculus)
Mammalia Igsf6 30 17 31
  • 75.85 (n)
(Bos Taurus)
Mammalia IGSF6 30 31
  • 75.81 (n)
(Monodelphis domestica)
Mammalia IGSF6 31
  • 53 (a)
(Ornithorhynchus anatinus)
Mammalia IGSF6 31
  • 50 (a)
(Gallus gallus)
Aves IGSF6 30 31
  • 51.18 (n)
(Anolis carolinensis)
Reptilia IGSF6 31
  • 36 (a)
Species where no ortholog for IGSF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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 Vase (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 IGSF6 Gene

Gene Tree for IGSF6 (if available)
Gene Tree for IGSF6 (if available)
Evolutionary constrained regions (ECRs) for IGSF6: view image

Paralogs for IGSF6 Gene

No data available for Paralogs for IGSF6 Gene

Variants for IGSF6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGSF6 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs17851574 - p.Gln74Arg
rs2290612 - p.Phe173Ser
rs751849987 - p.Asn186Lys

Additional dbSNP identifiers (rs#s) for IGSF6 Gene

Structural Variations from Database of Genomic Variants (DGV) for IGSF6 Gene

Variant ID Type Subtype PubMed ID
dgv116e55 CNV loss 17911159
dgv2800n100 CNV gain 25217958
dgv2803n100 CNV loss 25217958
dgv2804n100 CNV gain 25217958
dgv2805n100 CNV gain+loss 25217958
dgv2806n100 CNV gain 25217958
dgv2807n100 CNV loss 25217958
dgv2808n100 CNV gain+loss 25217958
dgv2809n100 CNV loss 25217958
dgv2810n100 CNV loss 25217958
dgv347n27 CNV gain 19166990
dgv348n27 CNV loss 19166990
dgv3n1 OTHER inversion 15895083
dgv3n29 CNV loss 16826518
dgv47n16 OTHER inversion 17901297
dgv4944n54 CNV loss 21841781
dgv4946n54 CNV gain+loss 21841781
dgv4947n54 CNV loss 21841781
dgv806e212 CNV loss 25503493
esv25717 CNV gain+loss 19812545
esv2751551 CNV gain 17911159
esv2751552 CNV loss 17911159
esv2758636 CNV gain+loss 17122850
esv2762010 CNV gain+loss 21179565
esv2763135 CNV gain 21179565
esv3368991 OTHER inversion 20981092
esv34235 CNV gain 17911159
esv3427100 CNV insertion 20981092
esv34544 CNV gain 17911159
esv3570431 CNV gain 25503493
esv3582094 CNV loss 25503493
esv3638186 CNV loss 21293372
esv3638187 CNV gain 21293372
esv3892812 CNV gain+loss 25118596
esv998989 OTHER inversion 20482838
nsv1077770 OTHER inversion 25765185
nsv1140248 OTHER inversion 24896259
nsv428322 CNV gain 18775914
nsv433438 CNV gain 18776910
nsv471086 CNV loss 18288195
nsv499139 OTHER inversion 21111241
nsv517713 CNV gain+loss 19592680
nsv571631 CNV loss 21841781
nsv571634 CNV gain 21841781
nsv571635 CNV gain 21841781
nsv571639 CNV loss 21841781
nsv7280 OTHER inversion 18451855
nsv817726 CNV gain 17921354
nsv9397 CNV gain+loss 18304495

Variation tolerance for IGSF6 Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IGSF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGSF6 Gene

Disorders for IGSF6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IGSF6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
inflammatory bowel disease 1
  • ibd1
dysbaric osteonecrosis
  • caisson disease of bone
inflammatory bowel disease
  • inflammatory bowel diseases
- elite association - COSMIC cancer census association via MalaCards
Search IGSF6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IGSF6

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IGSF6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IGSF6 Gene

Publications for IGSF6 Gene

  1. Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease. (PMID: 12786995) King K … Mathew CG (European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics 2003) 3 4 41
  2. The mouse and human IGSF6 (DORA) genes map to the inflammatory bowel disease 1 locus and are embedded in an intron of a gene of unknown function. (PMID: 11132146) Bates EE … Lebecque S (Immunogenetics 2000) 3 4 23
  3. CD40L activation of dendritic cells down-regulates DORA, a novel member of the immunoglobulin superfamily. (PMID: 9809579) Bates EE … Lebecque S (Molecular immunology 1998) 2 3 4
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for IGSF6 Gene

  • Signalway Proteins for IGSF6

Sources for IGSF6 Gene