CNST (Consortin) Gene
Gene encoding a transmembrane protein involved in cell adhesion and signaling
Gene Information Card
| Symbol | CNST |
|---|---|
| Full Name | Consortin |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q25.1 |
| NCBI Gene ID | 163882 ncbi.nlm.nih.gov/gene/163882 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q5T0J0 |
| OMIM ID | 611648 |
| HGNC ID | 26571 |
| Aliases | C1orf38, FLJ22662, MGC138290 |
Description
The CNST gene encodes consortin, a transmembrane protein that localizes to the plasma membrane and is involved in cell-cell adhesion and signaling. It is expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect cell adhesion and tumor progression | COSMIC database reports mutations in multiple cancer types |
| No specific Mendelian disease associated | Not established | OMIM lists no disease association as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| A549 | 6.5 | Lung cancer cells |
| MCF7 | 5.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown |
| c.567delC (p.Leu190fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • cell adhesion (GO:0007155) |
| • protein binding (GO:0005515) |
Pathways
• Cell adhesion molecules (CAMs)
Protein Summary
Consortin is a 746-amino acid transmembrane protein with a single pass domain. It is involved in cell-cell adhesion and may play a role in signal transduction. The protein is expressed in multiple tissues and is conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNST Knockout HEK293 Cell Line | EDJ-KQ12966 | Human | 163882 | Details Get a Quote |
| CNST Knockout A-549 Cell Line | EDJ-KQ42181 | Human | 163882 | Details Get a Quote |
| CNST Knockout HCT 116 Cell Line | EDJ-KQ42182 | Human | 163882 | Details Get a Quote |
| CNST Knockout HeLa Cell Line | EDJ-KQ42183 | Human | 163882 | Details Get a Quote |
| CNST Knockout HAP1 Cell Line | EDC07895 | Human | 163882 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
