GRAMD1B Gene - Structure, Function, and Clinical Significance
Comprehensive guide to GRAMD1B (GRAM domain containing 1B), including gene information, expression, mutations, and related diseases.
Gene Information Card
| Symbol | GRAMD1B |
|---|---|
| Full Name | GRAM domain containing 1B |
| Gene Type | gene with protein product |
| Chromosomal Location | 11q24.1 |
| NCBI Gene ID | 57476 ncbi.nlm.nih.gov/gene/57476 |
| Ensembl ID | ENSG00000023171 |
| UniProt ID | Q3KR37 |
| OMIM ID | 620179 |
| HGNC ID | HGNC:29214 |
| Aliases | LAMb, KIAA1201, LINC01059 |
Description
GRAMD1B (GRAM domain containing 1B) is a protein-coding gene located on chromosome 11q24.1. It encodes a protein that contains a GRAM domain, which is often involved in membrane-associated signaling. The gene is expressed in various tissues and has been implicated in certain diseases. This article provides a comprehensive overview of GRAMD1B, including its structure, expression, mutations, and clinical relevance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered expression and potential role in tumor progression | PMID: 31270520 |
| Colorectal cancer | Downregulation associated with poor prognosis | PMID: 30150742 |
| Breast cancer | Methylation and reduced expression in tumor tissues | PMID: 28659768 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Brain | 5.1 | Low |
| Testis | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| MCF7 | 4.2 | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Predicted to cause loss of function |
| c.567A>G (p.Ile189Met) | Missense | 0.01% | Unknown significance |
| c.890_891del (p.Glu297fs) | Frameshift | Rare | Predicted to cause loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to result in a truncated or absent protein, leading to loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GRAMD1B.
Dominant Negative (DN)
No dominant-negative mutations have been described for GRAMD1B.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • membrane |
| • signal transduction |
Pathways
• No specific pathways have been curated for GRAMD1B in major databases.
Protein Summary
The GRAMD1B protein contains a GRAM domain, which is a globular domain found in proteins involved in membrane trafficking and signaling. The protein is predicted to be membrane-associated and may play a role in cellular signaling processes. However, its exact function remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRAMD1B Knockout HEK293 Cell Line | EDJ-KQ13677 | Human | 57476 | Details Get a Quote |
| GRAMD1B Knockout A-549 Cell Line | EDJ-KQ43372 | Human | 57476 | Details Get a Quote |
| GRAMD1B Knockout HCT 116 Cell Line | EDJ-KQ43373 | Human | 57476 | Details Get a Quote |
| GRAMD1B Knockout HeLa Cell Line | EDJ-KQ43374 | Human | 57476 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
