CRKL Gene: CRK Like Proto-Oncogene, Adaptor Protein
Comprehensive gene card for CRKL, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | CRKL |
|---|---|
| Full Name | CRK like proto-oncogene, adaptor protein |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 1399 ncbi.nlm.nih.gov/gene/1399 |
| Ensembl ID | ENSG00000100218 |
| UniProt ID | P46109 |
| OMIM ID | 602007 |
| HGNC ID | 2363 |
| Aliases | CRK-like, v-crk avian sarcoma virus CT10 oncogene homolog-like |
Description
CRKL encodes a member of the CRK family of adaptor proteins, which contain SH2 and SH3 domains. The protein mediates signal transduction from receptor tyrosine kinases to downstream effectors, playing roles in cell proliferation, migration, and adhesion. CRKL is involved in the pathogenesis of DiGeorge syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| DiGeorge syndrome (22q11.2 deletion syndrome) | Haploinsufficiency of CRKL contributes to cardiac and craniofacial defects | PMID: 11532957, NCBI GeneReviews |
| Chronic myeloid leukemia (CML) | CRKL is a major substrate of BCR-ABL tyrosine kinase; constitutive phosphorylation drives leukemogenesis | PMID: 7533169, COSMIC |
| Non-small cell lung cancer | CRKL amplification and overexpression promote tumor growth and metastasis | PMID: 17699752, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 28.5 | High |
| Heart | 22.1 | High |
| Brain | 15.3 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 18.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (CML) | 35.2 | High expression; BCR-ABL positive |
| A549 (lung adenocarcinoma) | 22.4 | Moderate expression |
| HEK293 (embryonic kidney) | 18.9 | Moderate expression |
| Jurkat (T-cell leukemia) | 14.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.517C>T (p.Arg173Cys) | Missense | <0.1% | Unknown; reported in ClinVar |
| c.1A>G (p.Met1Val) | Missense (start loss) | <0.1% | Likely loss of function; ClinVar |
| Amplification (22q11.21) | Copy number gain | Variable in cancers | Gain of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start loss, deletions) are associated with 22q11.2 deletion syndrome, leading to haploinsufficiency.
Gain of Function (GOF)
Amplification and overexpression in cancers (e.g., lung, CML) confer gain-of-function by enhancing downstream signaling.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for CRKL.
View complete mutation data：
Gene Ontology (GO)
| • SH3/SH2 adaptor activity (GO:0005070) | • transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) |
| • cell differentiation (GO:0030154) | • neurotrophin TRK receptor signaling pathway (GO:0048011) |
| • cytoplasm (GO:0005737) |
Pathways
• BCR-ABL signaling in chronic myeloid leukemia (KEGG: hsa05220)
• ErbB signaling pathway (KEGG: hsa04012)
• Focal adhesion (KEGG: hsa04510)
• Rap1 signaling pathway (KEGG: hsa04015)
Protein Summary
CRKL is a 303-amino-acid adaptor protein containing one SH2 domain and two SH3 domains. It binds to phosphorylated tyrosine residues on activated receptors (e.g., EGFR, BCR-ABL) and recruits downstream effectors such as C3G, SOS, and c-ABL. The protein is ubiquitously expressed and critical for embryonic development, hematopoiesis, and immune cell function.
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