CRACDL (CRACD Like) - Gene Overview
A comprehensive resource on CRACDL gene, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | CRACDL |
|---|---|
| Full Name | CRACD Like |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.2 |
| NCBI Gene ID | 440145 ncbi.nlm.nih.gov/gene/440145 |
| Ensembl ID | ENSG00000188783 |
| UniProt ID | Q5T750 |
| OMIM ID | 617088 |
| HGNC ID | 33733 |
| Aliases | CRACDL1, FLJ46320 |
Description
CRACDL (CRACD Like) is a protein-coding gene located on chromosome 2q33.2. It is predicted to be involved in cellular processes, though its exact function is not fully characterized. The gene is conserved across species and is expressed in various tissues, with notable expression in the brain and testis. CRACDL has been implicated in certain cancers and neurological conditions, but further research is needed to clarify its role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential oncogenic or tumor suppressive roles; specific mechanism not fully defined. | COSMIC mutation data and differential expression studies. |
| Neurodevelopmental disorders | Possible involvement in neuronal development; evidence from expression and rare variant studies. | ClinVar and literature reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Lung | 4.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.6 | Moderate expression |
| A549 | 3.2 | Low expression |
| SH-SY5Y | 12.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% | Unknown; predicted benign by in silico tools. |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% | Unknown; possibly damaging. |
| c.890_891insA (p.Leu297fs) | Frameshift | Rare | Loss of function; likely pathogenic. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to lead to loss of function, potentially contributing to disease phenotypes.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular Function: protein binding (GO:0005515) | • Biological Process: cell differentiation (GO:0030154) |
| • Cellular Component: membrane (GO:0016020) |
Pathways
• No specific pathways curated in major databases; may be involved in signaling cascades.
Protein Summary
The CRACDL protein is a predicted membrane-associated protein with unknown function. It contains conserved domains suggestive of involvement in cell-cell communication or receptor activity. Structural predictions indicate transmembrane regions. Further studies are needed to elucidate its biochemical role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRACDL Knockout HEK293 Cell Line | EDJ-KQ12998 | Human | 343990 | Details Get a Quote |
| CRACDL Knockout A-549 Cell Line | EDJ-KQ42247 | Human | 343990 | Details Get a Quote |
| CRACDL Knockout HCT 116 Cell Line | EDJ-KQ42248 | Human | 343990 | Details Get a Quote |
| CRACDL Knockout HeLa Cell Line | EDJ-KQ42249 | Human | 343990 | Details Get a Quote |
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