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QRICH2 (Glutamine Rich 2) is a Protein Coding gene. Diseases associated with QRICH2 include Spermatogenic Failure 35. An important paralog of this gene is C16orf96.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 30683861 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005929 | cilium | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031514 | motile cilium | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030031 | cell projection assembly | IMP | 30683861 |
GO:0030317 | flagellated sperm motility | IMP | 30683861 |
GO:2000059 | negative regulation of ubiquitin-dependent protein catabolic process | IMP | 30683861 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | QRICH2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Qrich2 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | QRICH2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | QRICH2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Qrich2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | QRICH2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | QRICH2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | QRICH2 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1567790522 | Pathogenic: SPERMATOGENIC FAILURE 35 | 76,304,430(-) | C/T | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
rs777214459 | Pathogenic: SPERMATOGENIC FAILURE 35 | 76,291,192(-) | G/A | NONSENSE | |
VAR_082019 | Spermatogenic failure 35 (SPGF35) [MIM:618341] | p.Val569Glu | |||
VAR_082021 | Spermatogenic failure 35 (SPGF35) [MIM:618341] | p.Gln1105Lys | |||
VAR_082022 | Spermatogenic failure 35 (SPGF35) [MIM:618341] | p.Gly1112Glu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv21573 | CNV | loss | 19812545 |
esv2430837 | CNV | deletion | 19546169 |
esv2656914 | CNV | deletion | 23128226 |
esv2670769 | CNV | deletion | 23128226 |
esv2671805 | CNV | deletion | 23128226 |
esv2673666 | CNV | deletion | 23128226 |
esv2716250 | CNV | deletion | 23290073 |
esv2716253 | CNV | deletion | 23290073 |
esv3554793 | CNV | deletion | 23714750 |
esv3554794 | CNV | deletion | 23714750 |
esv3641280 | CNV | loss | 21293372 |
esv3641281 | CNV | loss | 21293372 |
esv3641282 | CNV | loss | 21293372 |
esv3641283 | CNV | loss | 21293372 |
nsv1139680 | CNV | duplication | 24896259 |
nsv512502 | CNV | loss | 21212237 |
nsv833547 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spermatogenic failure 35 |
|