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This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]
PRR12 (Proline Rich 12) is a Protein Coding gene. Diseases associated with PRR12 include Coloboma Of Iris and Cat Eye Syndrome. An important paralog of this gene is QSER1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0014069 | postsynaptic density | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO:0043005 | neuron projection | IEA | -- |
GO:0045202 | synapse | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PRR12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PRR12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PRR12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Prr12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Prr12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PRR12 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PRR12 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prr12 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | prr12b 31 |
|
OneToOne | |
wufj88e10 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
932435 | Uncertain Significance: not provided | 49,615,839(+) |
C/G NM_020719.3(PRR12):c.5117C>G (p.Pro1706Arg) |
MISSENSE | |
983349 | Uncertain Significance: Intellectual disability | 49,596,458(+) |
C/T NM_020719.3(PRR12):c.2123C>T (p.Ala708Val) |
MISSENSE | |
985191 | Uncertain Significance: Inborn genetic diseases | 49,624,922(+) |
C/T NM_020719.3(PRR12):c.5800C>T (p.Arg1934Trp) |
MISSENSE | |
985621 | Pathogenic: Inborn genetic diseases | 49,597,575(+) |
GC/G NM_020719.3(PRR12):c.3241del (p.Leu1081fs) |
FRAMESHIFT | |
986980 | Likely Pathogenic: not provided | 49,599,719(+) |
A/ACG NM_020719.3(PRR12):c.4128_4129dup (p.Leu1377fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv21818 | CNV | gain | 19812545 |
nsv1071938 | CNV | deletion | 25765185 |
nsv1072360 | CNV | deletion | 25765185 |
nsv1118832 | CNV | deletion | 24896259 |
nsv1136288 | CNV | deletion | 24896259 |
nsv1138718 | CNV | deletion | 24896259 |
nsv1160655 | CNV | deletion | 26073780 |
nsv469715 | CNV | gain+loss | 16826518 |
nsv470150 | CNV | gain | 18288195 |
nsv817854 | CNV | gain | 17921354 |
nsv828578 | CNV | loss | 20364138 |
nsv833863 | CNV | loss | 17160897 |
nsv833864 | CNV | gain | 17160897 |
nsv833865 | CNV | gain+loss | 17160897 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
coloboma of iris |
|
|
cat eye syndrome |
|
|
aland island eye disease |
|
|
autism |
|
|
mirror movements 1 |
|
|