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This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PROM2 (Prominin 2) is a Protein Coding gene. Diseases associated with PROM2 include Cone-Rod Dystrophy 15 and Jaw Cancer. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is PROM1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32296183 |
GO:0015485 | cholesterol binding | IBA,ISS | 12514187 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IBA,ISS | 12514187 |
GO:0005902 | microvillus | IBA,ISS | 12514187 |
GO:0005929 | cilium | IBA,ISS | 12514187 |
GO:0009986 | cell surface | IEA,ISS | 12514187 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | IDA | 23583380 |
GO:0031346 | positive regulation of cell projection organization | IDA | 23583380 |
GO:0043087 | regulation of GTPase activity | IDA | 23583380 |
GO:0048550 | negative regulation of pinocytosis | IDA | 23583380 |
GO:2000369 | NOT regulation of clathrin-dependent endocytosis | IDA | 23583380 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: | - | ||||||||||||||||||||
SP5: | |||||||||||||||||||||
SP6: | |||||||||||||||||||||
SP7: | |||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PROM2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | PROM2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PROM2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Prom2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Prom2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PROM2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PROM2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PROM2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prom2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | prom2 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | prom 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | prmn-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs73625087 | Benign: not provided | 95,277,422(+) |
G/A NM_001165978.3(PROM2):c.831G>A (p.Gln277=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs12992066 | - |
p.Gln508Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3591652 | OTHER | inversion | 21293372 |
nsv1160825 | CNV | duplication | 26073780 |
nsv528011 | CNV | loss | 19592680 |
nsv953478 | CNV | deletion | 24416366 |
nsv998014 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cone-rod dystrophy 15 |
|
|
jaw cancer |
|
|
maxillary cancer |
|
|
chromophobe renal cell carcinoma |
|
|
frontometaphyseal dysplasia 1 |
|
|