CARD19
Caspase Recruitment Domain Family Member 19
Gene Information Card
| Symbol | CARD19 |
|---|---|
| Full Name | Caspase Recruitment Domain Family Member 19 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 84270 ncbi.nlm.nih.gov/gene/84270 |
| Ensembl ID | ENSG00000124782 |
| UniProt ID | Q96LW7 |
| OMIM ID | 617198 |
| HGNC ID | 28299 |
| Aliases | C9orf89, CARD19_HUMAN, MGC12966 |
Description
CARD19 (Caspase Recruitment Domain Family Member 19) is a protein-coding gene located on chromosome 6p21.33. The encoded protein contains a caspase recruitment domain (CARD) and is involved in the regulation of apoptosis and innate immune signaling. CARD19 is known to interact with other CARD-containing proteins and may modulate NF-kappaB activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Lung | 6.1 | Low |
| Testis | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.3 | Moderate expression |
| HeLa | 6.7 | Low expression |
| K562 | 11.2 | High expression |
| Jurkat | 9.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | No functional impact reported |
| c.100C>T | Synonymous | <0.01% | No functional impact reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • CARD domain binding | • protein homodimerization activity |
| • regulation of apoptotic process | • positive regulation of NF-kappaB transcription factor activity |
Pathways
• Apoptosis
• Innate immune system
• NF-kappaB signaling
Protein Summary
CARD19 is a 229-amino acid protein containing a single N-terminal caspase recruitment domain (CARD). It is localized in the cytoplasm and may function as a modulator of apoptosis and inflammatory signaling. The protein is expressed in immune tissues and cell lines, suggesting a role in immune regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARD19 Knockout HEK293 Cell Line | EDJ-KQ10044 | Human | 84270 | Details Get a Quote |
| CARD19 Knockout A-549 Cell Line | EDJ-KQ37060 | Human | 84270 | Details Get a Quote |
| CARD19 Knockout HCT 116 Cell Line | EDJ-KQ37061 | Human | 84270 | Details Get a Quote |
| CARD19 Knockout HeLa Cell Line | EDJ-KQ37062 | Human | 84270 | Details Get a Quote |
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