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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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Insulin receptor recycling | ||
2 | Tight junction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0098609 | cell-cell adhesion | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IGSF5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IGSF5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IGSF5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Igsf5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Igsf5 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | IGSF5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IGSF5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IGSF5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | igsf5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | igsf5a 30 |
|
||
igsf5 31 |
|
OneToMany | |||
IGSF5 (2 of 2) 31 |
|
OneToMany |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pseudo-torch syndrome 1 |
|
|