Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
150084
Gene name Gene Name - the full gene name approved by the HGNC.
Immunoglobulin superfamily member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGSF5
Synonyms (NCBI Gene) Gene synonyms aliases
GSF5, JAM4
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1062766 hsa-miR-1297 CLIP-seq
MIRT1062767 hsa-miR-2052 CLIP-seq
MIRT1062768 hsa-miR-2110 CLIP-seq
MIRT1062769 hsa-miR-219-2-3p CLIP-seq
MIRT1062770 hsa-miR-26a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0005923 Component Bicellular tight junction IBA
GO:0005923 Component Bicellular tight junction IEA
GO:0009986 Component Cell surface IBA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610638 5952 ENSG00000183067
Protein
UniProt ID Q9NSI5
Protein name Immunoglobulin superfamily member 5 (IgSF5) (Junctional adhesion molecule 4) (JAM-4)
Protein 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 fun
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 39 140 Immunoglobulin I-set domain Domain
Sequence
MGQKERSTADTLPDLEEWKSAAGLRWWQTAVVDGSGSGNEVIEGPQNARVLKGSQARFNC
TVSQGWKLIMWALSDMVVLSVRPMEPIITNDRFTSQRYDQGGNFTSEMIIHNVEPSDSGN
IRCSLQNSRLHGSAYLTVQV
MGELFIPSVNLVVAENEPCEVTCLPSHWTRLPDISWELGL
LVSHSSYYFVPEPSDLQSAVSILALTPQSNGTLTCVATWKSLKARKSATVNLTVIRCPQD
TGGGINIPGVLSSLPSLGFSLPTWGKVGLGLAGTMLLTPTCTLTIRCCCCRRRCCGCNCC
CRCCFCCRRKRGFRIQFQKKSEKEKTNKETETESGNENSGYNSDEQKTTDTASLPPKSCE
SSDPEQRNSSCGPPHQRADQRPPRPASHPQASFNLASPEKVSNTTVV
Sequence length 407
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Tight junction
Epithelial cell signaling in Helicobacter pylori infection
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 35524249
Inflammation Associate 28206970
Non alcoholic Fatty Liver Disease Associate 28206970
Obesity Associate 35524249
Squamous Cell Carcinoma of Head and Neck Associate 33506058