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Aliases for IGSF5 Gene

Aliases for IGSF5 Gene

  • Immunoglobulin Superfamily Member 5 2 3 5
  • Junctional Adhesion Molecule 4 2 3 4
  • Immunoglobulin Superfamily, Member 5 2 3
  • JAM-4 3 4
  • JAM4 3 4
  • Immunoglobulin Superfamily 5 Like 3
  • IgSF5 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 Tight junction and Insulin receptor recycling. 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).

No data available for Entrez Gene 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

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

Proteomics data for IGSF5 Gene at MOPED

Post-translational modifications for IGSF5 Gene

  • Glycosylation at Asn 59, Asn 103, Asn 210, and Asn 231
  • Modification sites at PhosphoSitePlus

Other Protein References for IGSF5 Gene

ENSEMBL proteins:
REFSEQ proteins:

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 :
  • Contains 2 Ig-like V-type (immunoglobulin-like) domains.
  • Belongs to the immunoglobulin superfamily.
Domain:
  • Contains 2 Ig-like V-type (immunoglobulin-like) domains.
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 for IGSF5 Gene

GenomeRNAi human phenotypes for IGSF5:
MGI mutant phenotypes for IGSF5:
inferred from 1 alleles
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

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
Jensen Localization Image for IGSF5 Gene COMPARTMENTS Subcellular localization image for IGSF5 gene
Compartment Confidence
plasma membrane 4
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for IGSF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0005911 cell-cell junction IBA --
GO:0005923 bicellular tight junction IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with IGSF5: view

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

(3) 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:

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 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).

SOURCE GeneReport for Unigene cluster for IGSF5 Gene Hs.422120

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

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 35
  • 98.11 (n)
  • 96.55 (a)
IGSF5 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGSF5 36
  • 54 (a)
OneToOne
IGSF5 35
  • 72.46 (n)
  • 57.97 (a)
dog
(Canis familiaris)
Mammalia IGSF5 35
  • 71.98 (n)
  • 56.98 (a)
IGSF5 36
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igsf5 16
Igsf5 36
  • 49 (a)
OneToOne
Igsf5 35
  • 66 (n)
  • 53.98 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia IGSF5 36
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Igsf5 35
  • 63.9 (n)
  • 52.15 (a)
chicken
(Gallus gallus)
Aves IGSF5 35
  • 48.96 (n)
  • 34.75 (a)
IGSF5 36
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGSF5 36
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igsf5 35
  • 45.99 (n)
  • 34.13 (a)
zebrafish
(Danio rerio)
Actinopterygii igsf5 36
  • 22 (a)
OneToMany
IGSF5 (2 of 2) 36
  • 21 (a)
OneToMany
igsf5a 35
  • 44.91 (n)
  • 31.05 (a)
Species with no ortholog for IGSF5:
  • 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
rs2205204 - 39,765,580(+) TGCAA(C/G)AGTCC reference, missense
rs11908882 - 39,770,965(+) GAGAA(A/T)GAACC reference, missense
rs8129968 - 39,771,005(+) GGACC(C/T)GGCTC reference, missense
rs2837225 - 39,793,535(+) GCAGA(A/C)ACCGC reference, missense
rs389819 -- 39,736,966(+) CCTCA(G/T)ATTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834099 CNV Loss 17160897
esv275236 CNV Gain+Loss 21479260
nsv828877 CNV Gain 20364138

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

HapMap Linkage Disequilibrium report
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 Genet. 2011) 3 48 67
  2. Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. (PMID: 24376456) Simino J. … Rao D.C. (Front Genet 2013) 3
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  4. Genome-wide association study of suicide attempts in mood disorder patients. (PMID: 21041247) Perlis R.H. … Smoller J.W. (Am J Psychiatry 2010) 3
  5. Ligand-of-Numb protein X is an endocytic scaffold for junctional adhesion molecule 4. (PMID: 16832352) Kansaku A. … Hata Y. (Oncogene 2006) 3

Products for IGSF5 Gene

Sources for IGSF5 Gene

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