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PTGFRN (Prostaglandin F2 Receptor Inhibitor) is a Protein Coding gene. Diseases associated with PTGFRN include Bone Leiomyosarcoma and Hypotrichosis-Lymphedema-Telangiectasia Syndrome. An important paralog of this gene is IGSF3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11278880 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0009986 | cell surface | HDA | 19581412 |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0014905 | myoblast fusion involved in skeletal muscle regeneration | IEA,ISS | -- |
GO:0034389 | lipid droplet organization | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTGFRN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTGFRN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTGFRN 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ptgfrn 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptgfrn 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PTGFRN 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTGFRN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTGFRN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTGFRN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100493252 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-132g1.7 30 |
|
||
PTGFRN (2 of 2) 31 |
|
OneToMany | |||
PTGFRN (1 of 2) 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs142424201 | Likely Benign: not provided | 116,944,985(+) |
A/G NM_020440.4(PTGFRN):c.725A>G (p.Gln242Arg) |
MISSENSE | |
rs145790245 | Likely Benign: not provided | 116,944,945(+) |
G/A NM_020440.4(PTGFRN):c.685G>A (p.Ala229Thr) |
MISSENSE | |
rs148576999 | Likely Benign: not provided | 116,967,311(+) |
G/A NM_020440.4(PTGFRN):c.2040G>A (p.Glu680=) |
SYNONYMOUS | |
rs150391268 | Likely Benign: not provided | 116,967,110(+) |
G/T NM_020440.4(PTGFRN):c.1839G>T (p.Val613=) |
SYNONYMOUS | |
rs17036676 | Benign: not provided | 116,984,822(+) |
C/T NM_020440.4(PTGFRN):c.2310C>T (p.Arg770=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
bone leiomyosarcoma |
|
|
hypotrichosis-lymphedema-telangiectasia syndrome |
|
|