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The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008]
INSL5 (Insulin Like 5) is a Protein Coding gene. Diseases associated with INSL5 include Fatal Infantile Hypertonic Myofibrillar Myopathy and Cryptorchidism, Unilateral Or Bilateral. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is RLN3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001664 | G protein-coupled receptor binding | IBA | 21873635 |
GO:0005179 | hormone activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO:0005576 | extracellular region | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors | ||
2 | Signaling by GPCR | ||
3 | Relaxin signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0008150 | biological_process | ND | -- |
GO:2000253 | positive regulation of feeding behavior | IBA | 21873635 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | INSL5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | INSL5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Insl5 30 17 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs549148 | - | p.Gln50Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3893623 | CNV | gain | 25118596 |
nsv830093 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fatal infantile hypertonic myofibrillar myopathy |
|
|
cryptorchidism, unilateral or bilateral |
|
|