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The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
CARD8 (Caspase Recruitment Domain Family Member 8) is a Protein Coding gene. Diseases associated with CARD8 include Masters-Allen Syndrome and Cervical Adenitis. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and NOD-like receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and NACHT domain binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11551959 |
GO:0008656 | cysteine-type endopeptidase activator activity involved in apoptotic process | IDA | 15030775 |
GO:0032089 | NACHT domain binding | IPI | 15030775 |
GO:0042803 | protein homodimerization activity | IDA | 15030775 |
GO:0050700 | CARD domain binding | IPI | 11821383 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 11551959 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IDA | 15030775 |
GO:0005829 | cytosol | TAS | -- |
GO:0032991 | protein-containing complex | IDA | 11821383 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IBA | 21873635 |
GO:0010804 | negative regulation of tumor necrosis factor-mediated signaling pathway | IMP | 11821383 |
GO:0031665 | negative regulation of lipopolysaccharide-mediated signaling pathway | IDA | 11821383 |
GO:0032088 | negative regulation of NF-kappaB transcription factor activity | IMP | 11821383 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - |
ExUns: | 17b | · | 17c | · | 17d | · | 17e | · | 17f |
---|---|---|---|---|---|---|---|---|---|
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 | CARD8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CARD8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CARD8 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | NLRP1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
707834 | Benign: not provided | 48,221,805(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
744277 | Likely Benign: not provided | 48,230,456(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
749369 | Likely Benign: not provided | 48,230,856(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
771220 | Likely Benign: not provided | 48,230,557(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
782653 | Benign: not provided | 48,211,908(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3613n100 | CNV | gain | 25217958 |
dgv3614n100 | CNV | gain | 25217958 |
dgv3615n100 | CNV | loss | 25217958 |
dgv3616n100 | CNV | loss | 25217958 |
esv2669487 | CNV | deletion | 23128226 |
esv34181 | CNV | loss | 18971310 |
esv3644579 | CNV | loss | 21293372 |
esv8882 | OTHER | inversion | 19470904 |
nsv1056459 | CNV | loss | 25217958 |
nsv1057454 | CNV | loss | 25217958 |
nsv1065106 | CNV | gain | 25217958 |
nsv1065311 | CNV | gain | 25217958 |
nsv458716 | CNV | loss | 19166990 |
nsv458717 | CNV | loss | 19166990 |
nsv469623 | CNV | loss | 16826518 |
nsv517364 | CNV | gain+loss | 19592680 |
nsv523716 | CNV | loss | 19592680 |
nsv579902 | CNV | loss | 21841781 |
nsv579903 | CNV | loss | 21841781 |
nsv833854 | CNV | loss | 17160897 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
masters-allen syndrome |
|
|
cervical adenitis |
|
|
arteriosclerosis obliterans |
|
|
pharyngitis |
|
|
renal infectious disease |
|
|