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CRISPLD2 (Cysteine Rich Secretory Protein LCCL Domain Containing 2) is a Protein Coding gene. Diseases associated with CRISPLD2 include Orofacial Cleft 15 and Cleft Lip. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include heparin binding and glycosaminoglycan binding. An important paralog of this gene is CRISPLD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005539 | glycosaminoglycan binding | IBA | 21873635 |
GO:0008201 | heparin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0030133 | transport vesicle | IDA | -- |
GO:0031012 | extracellular matrix | IEA | -- |
GO:0034774 | secretory granule lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030198 | extracellular matrix organization | IEA | -- |
GO:0030324 | lung development | IEA | -- |
GO:0043312 | neutrophil degranulation | TAS | -- |
GO:0060325 | face morphogenesis | IMP | 21254358 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CRISPLD2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CRISPLD2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CRISPLD2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CRISPLD2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Crispld2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Crispld2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CRISPLD2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CRISPLD2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CRISPLD2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | crispld2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100535149 30 |
|
||
CRISPLD2 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8483 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | scl-23 31 |
|
ManyToMany | |
vap-1 31 |
|
ManyToMany | |||
scl-22 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710712 | Likely Benign: not provided | 84,849,457(+) | C/A | MISSENSE_VARIANT | |
720481 | Benign: not provided | 84,854,801(+) | C/T | SYNONYMOUS_VARIANT | |
733927 | Benign: not provided | 84,880,580(+) | C/G | MISSENSE_VARIANT | |
768803 | Benign: not provided | 84,873,915(+) | A/C | INTRON_VARIANT | |
770793 | Benign: not provided | 84,868,917(+) | CCTGTGCTGGGCTGTC | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5269n54 | CNV | loss | 21841781 |
esv3639442 | CNV | gain | 21293372 |
esv3639445 | CNV | gain | 21293372 |
esv3639446 | CNV | gain | 21293372 |
esv3639447 | CNV | gain | 21293372 |
esv3639448 | CNV | gain | 21293372 |
nsv1056758 | CNV | gain | 25217958 |
nsv1066260 | CNV | gain | 25217958 |
nsv1113825 | CNV | deletion | 24896259 |
nsv1131282 | CNV | deletion | 24896259 |
nsv457606 | CNV | gain | 19166990 |
nsv457608 | CNV | loss | 19166990 |
nsv457610 | CNV | loss | 19166990 |
nsv483044 | CNV | gain | 15286789 |
nsv573466 | CNV | gain | 21841781 |
nsv573470 | CNV | loss | 21841781 |
nsv573471 | CNV | loss | 21841781 |
nsv573472 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
orofacial cleft 15 |
|
|
cleft lip |
|
|
cleft palate, isolated |
|
|
van der woude syndrome 1 |
|
|
orofacial cleft |
|
|