IGSF5 Gene (Protein Coding)

Immunoglobulin Superfamily Member 5

GC21P039632
GIFtS:
32
See more...

Aliases for IGSF5 Gene

Aliases for IGSF5 Gene

  • Immunoglobulin Superfamily Member 5 2 3 4 5
  • Junctional Adhesion Molecule 4 2 3 4
  • JAM4 2 3 4
  • Immunoglobulin Superfamily, Member 5 2
  • Immunoglobulin Superfamily 5 Like 3
  • IGSF5 5
  • IgSF5 4
  • JAM-4 4
  • GSF5 3

External Ids for IGSF5 Gene

Previous GeneCards Identifiers for IGSF5 Gene

  • GC21U990047
  • GC21P040040
  • GC21P041117
  • GC21P026586
  • GC21P039728

Summaries for IGSF5 Gene

GeneCards Summary for IGSF5 Gene

IGSF5 (Immunoglobulin Superfamily Member 5) is a Protein Coding gene. Diseases associated with IGSF5 include Pseudo-Torch Syndrome 1. Among its related pathways are Insulin receptor recycling and Tight junction. Gene Ontology (GO) annotations related to this gene include PDZ domain binding. An important paralog of this gene is OPCML.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for IGSF5 Gene

Genomics for IGSF5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IGSF5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH21J039630 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 600.7 +0.1 126 5 CREB1 CTCF ZNF692 JUND RAD21 SP1 FOS FOSL2 SIN3A ATF4 IGSF5 B3GALT5-AS1 B3GALT5 ENSG00000225330 piR-46501-061 PCP4
GH21J039443 Promoter 0.3 EPDnew 600.1 -188.9 -188939 0.1 IGSF5 LCA5L lnc-LCA5L-3 NONHSAG032872.2 GET1-SH3BGR
GH21J039762 Enhancer 0.7 Ensembl ENCODE CraniofacialAtlas 27.3 +131.0 131005 1.5 ESRRA MTA1 IGSF5 piR-59347-008 MN309174-438 PCP4
GH21J039788 Promoter/Enhancer 1.3 EPDnew ENCODE CraniofacialAtlas 13.6 +156.3 156309 1 CREB1 CTCF TEAD4 IKZF1 TARDBP FOXA1 ZIC2 REST SP1 GTF2F1 PCP4 LOC107985500 IGSF5 HSALNG0133155
GH21J039741 Enhancer 0.7 ENCODE 20.8 +110.0 110014 1.5 ZBTB33 TARDBP GTF2F1 ZNF512B CTBP1 ESRRA ZNF592 CHD1 ZNF217 GATAD2B piR-33142-018 piR-42076-020 IGSF5 PCP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGSF5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IGSF5

Top Transcription factor binding sites by QIAGEN in the IGSF5 gene promoter:
  • AREB6
  • c-Ets-1
  • CUTL1
  • Elk-1
  • Ik-1
  • Ik-2
  • POU2F1
  • POU2F1a
  • RFX1
  • STAT3

Genomic Locations for IGSF5 Gene

Genomic Locations for IGSF5 Gene
chr21:39,632,465-39,802,096
(GRCh38/hg38)
Size:
169,632 bases
Orientation:
Plus strand
chr21:41,117,334-41,174,023
(GRCh37/hg19)
Size:
56,690 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 Structure • Gene Density

RefSeq DNA sequence for IGSF5 Gene

Proteins for IGSF5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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.
    SequenceCaution:
    • Sequence=CAB90447.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    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.

neXtProt entry for IGSF5 Gene

Post-translational modifications for IGSF5 Gene

  • Glycosylation at Asn59, Asn103, Asn210, and Asn231
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • IGSF5_HUMAN (1393)

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

Gene Families for IGSF5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for IGSF5 Gene

InterPro:
Blocks:
  • Immunoglobulin I-set
ProtoNet:

Suggested Antigen Peptide Sequences for IGSF5 Gene

GenScript: Design optimal peptide antigens:
  • Junctional adhesion molecule 4 (IGSF5_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IGSF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IBA 21873635
GO:0009986 cell surface IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0098609 cell-cell adhesion IBA 21873635
genes like me logo Genes that share ontologies with IGSF5: view

No data available for SIGNOR curated interactions for IGSF5 Gene

Drugs & Compounds for IGSF5 Gene

Products:

  1. Drug

(1) Drugs for IGSF5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with IGSF5: view

Transcripts for IGSF5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IGSF5 Gene

1 REFSEQ mRNAs :
2 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 IGSF5

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

No ASD Table

Relevant External Links for IGSF5 Gene

GeneLoc Exon Structure for
IGSF5

Expression for IGSF5 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for IGSF5 Gene
mRNA expression by GTEx for IGSF5 GenemRNA expression by BioGPS 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGSF5

SOURCE GeneReport for Unigene cluster for IGSF5 Gene:

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

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 30 31
  • 98.11 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IGSF5 30 31
  • 72.46 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IGSF5 30 31
  • 71.98 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Igsf5 30 17 31
  • 66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Igsf5 30
  • 63.9 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia IGSF5 31
  • 40 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IGSF5 30 31
  • 48.96 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia IGSF5 31
  • 30 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia igsf5 30
  • 45.99 (n)
Zebrafish
(Danio rerio)
 Actinopterygii igsf5a 30
  • 44.91 (n)
igsf5 31
  • 22 (a)
 OneToMany
IGSF5 (2 of 2) 31
  • 21 (a)
 OneToMany
Species where no ortholog for IGSF5 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)
  • 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IGSF5 Gene

ENSEMBL:
Gene Tree for IGSF5 (if available)
TreeFam:
Gene Tree for IGSF5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IGSF5: view image

Paralogs for IGSF5 Gene

Paralogs for IGSF5 Gene

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

Variants for IGSF5 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGSF5 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs11908882 - p.Asn156Lys
rs2205204 - p.Arg49Thr
rs2837225 - p.Asp350Glu
rs8129968 - p.Arg170Trp

Additional dbSNP identifiers (rs#s) for IGSF5 Gene

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)

Additional Variant Information for IGSF5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for IGSF5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IGSF5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pseudo-torch syndrome 1
  • ptorch1
- elite association - COSMIC cancer census association via MalaCards
Search IGSF5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IGSF5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IGSF5: view

No data available for 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 41
  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 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
  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

ExternalLinks

View latest publications for IGSF5 gene in Mastermind

Products for IGSF5 Gene

Sources for IGSF5 Gene