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The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]
CARD10 (Caspase Recruitment Domain Family Member 10) is a Protein Coding gene. Diseases associated with CARD10 include Glaucoma, Primary Open Angle and Autoimmune Hepatitis Type 1. Among its related pathways are NF-KappaB Family Pathway and GPCR Pathway. Gene Ontology (GO) annotations related to this gene include receptor signaling complex scaffold activity. An important paralog of this gene is CARD11.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11259443 |
GO:0030159 | receptor signaling complex scaffold activity | NAS | 11259443 |
GO:0050700 | CARD domain binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA,NAS | 11259443 |
GO:0032449 | CBM complex | NAS | 15125833 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | NF-kappa B signaling pathway | ||
2 | GPCR Pathway |
GPCR Pathway
.62
|
|
3 | NF-KappaB Family Pathway |
NF-KappaB Family Pathway
.72
|
|
4 | IL-2 Pathway |
PI3K Signaling in B-Lymphocyte
.35
|
|
5 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007250 | activation of NF-kappaB-inducing kinase activity | IDA | 11259443 |
GO:0042981 | regulation of apoptotic process | IEA | -- |
GO:0065003 | protein-containing complex assembly | NAS | 11259443 |
GO:0090051 | negative regulation of cell migration involved in sprouting angiogenesis | IMP | 24863965 |
GO:1900182 | positive regulation of protein localization to nucleus | IMP | 24863965 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c | ^ | 16a | · | 16b | · | 16c | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 19 | ^ | 20a | · | 20b | · | 20c | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | ||||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | |||||||||||||||||||
SP8: | - | ||||||||||||||||||
SP9: | |||||||||||||||||||
SP10: | |||||||||||||||||||
SP11: | |||||||||||||||||||
SP12: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CARD10 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CARD10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CARD10 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Card10 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Card10 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CARD10 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CARD10 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CARD10 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CARD10 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | CARD10 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711084 | Benign: not provided | 37,504,279(-) | T/C | MISSENSE_VARIANT | |
716133 | Benign: not provided | 37,491,799(-) | G/A | SYNONYMOUS_VARIANT | |
741007 | Benign: not provided | 37,506,267(-) | C/T | SYNONYMOUS_VARIANT | |
777704 | Benign: not provided | 37,507,876(-) | C/T | MISSENSE_VARIANT | |
790775 | Benign: not provided | 37,507,871(-) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1010487 | CNV | deletion | 20482838 |
esv1582981 | CNV | deletion | 17803354 |
esv2496764 | CNV | insertion | 19546169 |
esv2724214 | CNV | deletion | 23290073 |
esv2724215 | CNV | deletion | 23290073 |
esv2724216 | CNV | deletion | 23290073 |
esv3438 | CNV | loss | 18987735 |
esv3558147 | CNV | deletion | 23714750 |
esv5893 | CNV | loss | 19470904 |
nsv1057617 | CNV | gain | 25217958 |
nsv1151872 | CNV | deletion | 26484159 |
nsv512657 | CNV | loss | 21212237 |
nsv829203 | CNV | loss | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glaucoma, primary open angle |
|
|
autoimmune hepatitis type 1 |
|
|
open-angle glaucoma |
|
|
pityriasis rubra pilaris |
|
|
lymphoma, mucosa-associated lymphoid type |
|
|