Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IGSF5 Gene

Aliases for IGSF5 Gene

  • Immunoglobulin Superfamily Member 5 2 3 5
  • Junctional Adhesion Molecule 4 2 3 4
  • JAM4 3 4
  • Immunoglobulin Superfamily, Member 5 2
  • Immunoglobulin Superfamily 5 Like 3
  • IgSF5 4
  • JAM-4 4
  • GSF5 3

External Ids for IGSF5 Gene

Previous GeneCards Identifiers for IGSF5 Gene

  • GC21U990047
  • GC21P040040
  • GC21P041117
  • GC21P026586

Summaries for IGSF5 Gene

GeneCards Summary for IGSF5 Gene

IGSF5 (Immunoglobulin Superfamily Member 5) is a Protein Coding gene. Among its related pathways are Insulin receptor recycling and Tight junction. GO annotations related to this gene include PDZ domain binding.

UniProtKB/Swiss-Prot for IGSF5 Gene

  • Provides, together with MAGI1, an adhesion machinery at tight junctions, which may regulate the permeability of kidney glomerulus and small intestinal epithelial cells. Mediates calcium-independent homophilic cell adhesion. In testis, it may function as a cell adhesion molecule rather than a tight-junction protein. It may participate in the adhesion between spermatogonia-spermatogonia, spermatogonia-Sertoli cells, and Sertoli cells-Sertoli cells (By similarity).

Additional gene information for IGSF5 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGSF5 Gene

Genomics for IGSF5 Gene

Regulatory Elements for IGSF5 Gene

Enhancers for IGSF5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H039741 0.8 ENCODE 21 +16.6 16642 1 ESRRA NFIB SIN3A ZBTB7B RFX5 E2F1 CTBP1 GATA3 FOS RCOR1 IGSF5 ENSG00000231713 PCP4
GH21H039788 1.1 Ensembl ENCODE 13.7 +62.9 62886 0 NFIB SIN3A RAD21 RFX5 ZNF207 ZNF143 RCOR1 EGR2 SMARCA5 ZNF654 PCP4 IGSF5 ENSG00000231713
GH21H039762 0.4 ENCODE 27.5 +37.4 37435 1 ESRRA MTA1 IGSF5 ENSG00000231713 PCP4
GH21H039851 0.7 ENCODE 12.5 +126.4 126361 1 SMARCE1 PKNOX1 ZNF687 RFX1 DPF2 FOXA1 GATA3 GLIS1 FOSL2 FOS IGSF5 PCP4 ENSG00000231713
GH21H039643 0.7 ENCODE dbSUPER 7.1 -81.8 -81780 2 PKNOX1 GATA3 FOXA1 B3GALT5-AS1 IGSF5 GC21P039633 PIR55330
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IGSF5 on UCSC Golden Path with GeneCards custom track

Genomic Location for IGSF5 Gene

Chromosome:
21
Start:
39,725,838 bp from pter
End:
39,802,096 bp from pter
Size:
76,259 bases
Orientation:
Plus strand

Genomic View for IGSF5 Gene

Genes around IGSF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGSF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGSF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGSF5 Gene

Proteins for IGSF5 Gene

  • Protein details for IGSF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSI5-IGSF5_HUMAN
    Recommended name:
    Immunoglobulin superfamily member 5
    Protein Accession:
    Q9NSI5

    Protein attributes for IGSF5 Gene

    Size:
    407 amino acids
    Molecular mass:
    44593 Da
    Quaternary structure:
    • Interacts with MAGI1 at tight junctions, forms a tripartite complex with NPHS1. Interacts with LNX1 isoform 2 via its PDZ 2 domain, it may also interact with other isoforms containing this domain.
    Miscellaneous:
    • A protein of the expected size has been detected by antibody binding and Western blot in at least one of the analyzed tissues or cells.
    SequenceCaution:
    • Sequence=CAB90447.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for IGSF5 Gene

Post-translational modifications for IGSF5 Gene

  • Glycosylation at posLast=5959, isoforms=103, isoforms=210, and isoforms=231
  • Modification sites at PhosphoSitePlus

Other Protein References for IGSF5 Gene

No data available for DME Specific Peptides for IGSF5 Gene

Domains & Families for IGSF5 Gene

Protein Domains for IGSF5 Gene

Suggested Antigen Peptide Sequences for IGSF5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NSI5

UniProtKB/Swiss-Prot:

IGSF5_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with IGSF5: view

Function for IGSF5 Gene

Molecular function for IGSF5 Gene

UniProtKB/Swiss-Prot Function:
Provides, together with MAGI1, an adhesion machinery at tight junctions, which may regulate the permeability of kidney glomerulus and small intestinal epithelial cells. Mediates calcium-independent homophilic cell adhesion. In testis, it may function as a cell adhesion molecule rather than a tight-junction protein. It may participate in the adhesion between spermatogonia-spermatogonia, spermatogonia-Sertoli cells, and Sertoli cells-Sertoli cells (By similarity).

Phenotypes From GWAS Catalog for IGSF5 Gene

Phenotypes for IGSF5 Gene

MGI mutant phenotypes for IGSF5:
inferred from 1 alleles
GenomeRNAi human phenotypes for IGSF5:
genes like me logo Genes that share phenotypes with IGSF5: view

Animal Models for IGSF5 Gene

MGI Knock Outs for IGSF5:

Animal Model Products

  • Taconic Biosciences Mouse Models for IGSF5

CRISPR Products

miRNA for IGSF5 Gene

miRTarBase miRNAs that target IGSF5

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IGSF5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IGSF5 Gene

Localization for IGSF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGSF5 Gene

Apical cell membrane; Single-pass type I membrane protein. Cell junction, tight junction.

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 IGSF5 gene
Compartment Confidence
plasma membrane 4
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for IGSF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005923 bicellular tight junction IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with IGSF5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IGSF5 Gene

Pathways & Interactions for IGSF5 Gene

genes like me logo Genes that share pathways with IGSF5: view

Pathways by source for IGSF5 Gene

Gene Ontology (GO) - Biological Process for IGSF5 Gene

None

No data available for SIGNOR curated interactions for IGSF5 Gene

Drugs & Compounds for IGSF5 Gene

(1) Drugs for IGSF5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with IGSF5: view

Transcripts for IGSF5 Gene

mRNA/cDNA for IGSF5 Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IGSF5 Gene

Immunoglobulin superfamily, member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IGSF5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for IGSF5 Gene

No ASD Table

Relevant External Links for IGSF5 Gene

GeneLoc Exon Structure for
IGSF5
ECgene alternative splicing isoforms for
IGSF5

Expression for IGSF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGSF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGSF5 Gene

This gene is overexpressed in Heart - Atrial Appendage (x7.7) and Heart - Left Ventricle (x7.3).

NURSA nuclear receptor signaling pathways regulating expression of IGSF5 Gene:

IGSF5

SOURCE GeneReport for Unigene cluster for IGSF5 Gene:

Hs.422120
genes like me logo Genes that share expression patterns with IGSF5: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGSF5 Gene

Orthologs for IGSF5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGSF5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGSF5 33 34
  • 98.11 (n)
cow
(Bos Taurus)
Mammalia IGSF5 33 34
  • 72.46 (n)
dog
(Canis familiaris)
Mammalia IGSF5 33 34
  • 71.98 (n)
mouse
(Mus musculus)
Mammalia Igsf5 33 16 34
  • 66 (n)
rat
(Rattus norvegicus)
Mammalia Igsf5 33
  • 63.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IGSF5 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGSF5 33 34
  • 48.96 (n)
lizard
(Anolis carolinensis)
Reptilia IGSF5 34
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igsf5 33
  • 45.99 (n)
zebrafish
(Danio rerio)
Actinopterygii igsf5a 33
  • 44.91 (n)
igsf5 34
  • 22 (a)
OneToMany
IGSF5 (2 of 2) 34
  • 21 (a)
OneToMany
Species where no ortholog for IGSF5 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGSF5 Gene

ENSEMBL:
Gene Tree for IGSF5 (if available)
TreeFam:
Gene Tree for IGSF5 (if available)

Paralogs for IGSF5 Gene

No data available for Paralogs for IGSF5 Gene

Variants for IGSF5 Gene

Sequence variations from dbSNP and Humsavar for IGSF5 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000015283 -- 39,751,339(+) AGACA(A/G)CTCCA intron-variant
rs1000101824 -- 39,730,777(+) CTTTG(C/G)GATTC intron-variant
rs1000102596 -- 39,756,116(+) AAACA(-/AACAAACG)AAAGA intron-variant
rs1000110382 -- 39,764,409(+) GATCT(C/T)GGCTC intron-variant
rs1000125922 -- 39,772,121(+) TCTTA(C/T)CAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IGSF5 Gene

Variant ID Type Subtype PubMed ID
esv275236 CNV gain+loss 21479260
esv3327090 CNV insertion 20981092
nsv1061454 CNV gain 25217958
nsv828877 CNV gain 20364138
nsv834099 CNV loss 17160897

Variation tolerance for IGSF5 Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.41; 81.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGSF5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGSF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGSF5 Gene

Disorders for IGSF5 Gene

Relevant External Links for IGSF5

Genetic Association Database (GAD)
IGSF5
Human Genome Epidemiology (HuGE) Navigator
IGSF5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGSF5

No disorders were found for IGSF5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IGSF5 Gene

Publications for IGSF5 Gene

  1. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 45 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 60
  5. Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. (PMID: 24376456) Simino J … Rao DC (Frontiers in genetics 2013) 3 60

Products for IGSF5 Gene

Sources for IGSF5 Gene

Content
Loading form....