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This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. The encoded protein may also be involved in regulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]
FNIP2 (Folliculin Interacting Protein 2) is a Protein Coding gene. Diseases associated with FNIP2 include Familial Renal Oncocytoma and Birt-Hogg-Dube Syndrome. Among its related pathways are mTOR signaling pathway (KEGG) and PI3K / Akt Signaling. An important paralog of this gene is FNIP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18403135 |
GO:0042030 | ATPase inhibitor activity | IBA,IDA | 27353360 |
GO:0051087 | chaperone binding | IBA,IDA | 27353360 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 18403135 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PI3K / Akt Signaling | ||
2 | mTOR signaling pathway (KEGG) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 21209915 |
GO:0001932 | regulation of protein phosphorylation | IDA | 18663353 |
GO:0006468 | protein phosphorylation | IDA | 18663353 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FNIP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FNIP2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fnip2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fnip2 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FNIP2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FNIP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FNIP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FNIP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FNIP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fnip2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-42i9.8 30 |
|
||
FNIP2 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3764 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | T04C4.1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs147318337 | Benign: not provided | 158,868,251(+) |
G/C NM_020840.3(FNIP2):c.1615G>C (p.Gly539Arg) |
MISSENSE | |
rs368062140 | Likely Benign: not provided | 158,868,529(+) |
A/G NM_020840.3(FNIP2):c.1893A>G (p.Ala631=) |
SYNONYMOUS | |
rs62001913 | Likely Benign: not provided | 158,868,858(+) |
G/A NM_020840.3(FNIP2):c.2222G>A (p.Arg741Gln) |
MISSENSE | |
rs75305192 | Benign: not provided | 158,868,112(+) |
C/T NM_020840.3(FNIP2):c.1476C>T (p.Tyr492=) |
SYNONYMOUS | |
rs2276938 | - |
p.Thr298Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv9332n54 | CNV | gain | 21841781 |
esv22076 | CNV | loss | 19812545 |
esv23058 | CNV | loss | 19812545 |
esv2607605 | CNV | deletion | 19546169 |
esv2675186 | CNV | deletion | 23128226 |
esv2728614 | CNV | deletion | 23290073 |
esv2728615 | CNV | deletion | 23290073 |
esv3564857 | CNV | deletion | 23714750 |
esv3602840 | CNV | loss | 21293372 |
nsv1126701 | CNV | deletion | 24896259 |
nsv4570 | CNV | deletion | 18451855 |
nsv830125 | CNV | gain | 17160897 |
nsv830127 | CNV | loss | 17160897 |
nsv830128 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
familial renal oncocytoma |
|
|
birt-hogg-dube syndrome |
|
|
multilocular clear cell renal cell carcinoma |
|
|
familial renal papillary carcinoma |
|
|
oncocytoma |
|
|