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Aliases for IGSF5 Gene

Aliases for IGSF5 Gene

  • Immunoglobulin Superfamily, Member 5 2 3
  • Junctional Adhesion Molecule 4 2 3 4
  • JAM4 3 4 6
  • JAM-4 3 4
  • Immunoglobulin Superfamily Member 5 3
  • Immunoglobulin Superfamily 5 Like 3
  • IgSF5 4
  • GSF5 3

External Ids for IGSF5 Gene

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

Genomic Location for IGSF5 Gene

Start:
39,727,701 bp from pter
End:
39,802,096 bp from pter
Size:
74,396 bases
Orientation:
Plus strand

Genomic View for IGSF5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IGSF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGSF5 Gene

Regulatory Elements 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
    Secondary Accessions:

    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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn59, Asn103, Asn210, and Asn231

Other Protein References for IGSF5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IGSF5 Gene

Domains for IGSF5 Gene

Gene Families for IGSF5 Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing

Protein Domains for IGSF5 Gene

UniProtKB/Swiss-Prot:

IGSF5_HUMAN
Domain:
  • Contains 2 Ig-like V-type (immunoglobulin-like) domains.:
    • Q9NSI5
Family:
  • Belongs to the immunoglobulin superfamily.:
    • Q9NSI5
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).

Gene Ontology (GO) - Molecular Function for IGSF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with IGSF5: view

Phenotypes for IGSF5 Gene

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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for IGSF5 Gene

Localization for IGSF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGSF5 Gene

Cell membrane; Single-pass 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 5
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:0009986 cell surface IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IGSF5: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0016337 single organismal cell-cell adhesion IBA --
GO:0050767 regulation of neurogenesis IBA --
genes like me logo Genes that share ontologies with IGSF5: view

Compounds for IGSF5 Gene

(1) HMDB Compounds for IGSF5 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
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 (7.7) and Heart - Left Ventricle (7.3).

SOURCE GeneReport for Unigene cluster for IGSF5 Gene Hs.422120

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

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 36
  • 98.11 (n)
  • 96.55 (a)
IGSF5 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGSF5 36
  • 72.46 (n)
  • 57.97 (a)
IGSF5 37
  • 54 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IGSF5 36
  • 71.98 (n)
  • 56.98 (a)
IGSF5 37
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igsf5 36
  • 66 (n)
  • 53.98 (a)
Igsf5 16
Igsf5 37
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGSF5 37
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Igsf5 36
  • 63.9 (n)
  • 52.15 (a)
chicken
(Gallus gallus)
Aves IGSF5 36
  • 48.96 (n)
  • 34.75 (a)
IGSF5 37
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGSF5 37
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igsf5 36
  • 45.99 (n)
  • 34.13 (a)
zebrafish
(Danio rerio)
Actinopterygii igsf5 37
  • 22 (a)
OneToMany
IGSF5 (2 of 2) 37
  • 21 (a)
OneToMany
igsf5a 36
  • 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 MAF
rs368269 -- 39,728,010(+) TCATA(C/T)CTCCT intron-variant
rs372895 -- 39,731,144(+) CTCCC(A/C)TATCA intron-variant
rs372997 -- 39,745,383(+) acaac(C/T)tgcta upstream-variant-2KB, intron-variant
rs379438 -- 39,737,257(+) GCACA(A/G)ACTTC intron-variant
rs384659 -- 39,734,125(+) TTCAA(A/T)ACAAA 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

Relevant External Links for IGSF5 Gene

HapMap Linkage Disequilibrium report
IGSF5

Disorders for IGSF5 Gene

Relevant External Links for IGSF5

Genetic Association Database (GAD)
IGSF5
Human Genome Epidemiology (HuGE) Navigator
IGSF5
genes like me logo Genes that share disorders with IGSF5: view

No data available for UniProtKB/Swiss-Prot for IGSF5 Gene

Publications for IGSF5 Gene

  1. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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 49
  4. 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 49
  5. Genome-wide association study of suicide attempts in mood disorder patients. (PMID: 21041247) Perlis R.H. … Smoller J.W. (Am J Psychiatry 2010) 3

Products for IGSF5 Gene

Sources for IGSF5 Gene

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