SRRD (SRR1 Domain Containing)
Overview of the SRRD gene, its structure, expression, and associated diseases
Gene Information Card
| Symbol | SRRD |
|---|---|
| Full Name | SRR1 Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 143941 ncbi.nlm.nih.gov/gene/143941 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q9H2B2 |
| OMIM ID | 618727 |
| HGNC ID | 28310 |
| Aliases | C22orf32, HSPC131, SRR1L |
Description
SRRD (SRR1 Domain Containing) is a protein-coding gene located on chromosome 22q12.3. It encodes a protein containing an SRR1 domain, which is involved in cellular signaling and stress response pathways. The gene is expressed in various tissues and has been implicated in certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression of SRRD may influence tumor progression through signaling pathway modulation. | COSMIC, ClinVar |
| Colorectal cancer | Mutations and expression changes in SRRD have been observed in colorectal cancer samples. | COSMIC |
| Neurodevelopmental disorders | Rare variants in SRRD have been associated with intellectual disability and developmental delay. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| K562 | 6.3 | Leukemia cells |
| MCF7 | 11.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown functional effect |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Likely benign |
| c.123delC (p.Pro42fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cellular response to stress |
| • signal transduction |
Pathways
• Not assigned to any specific pathway in major databases.
Protein Summary
The SRRD protein contains an SRR1 domain and is localized to the cytoplasm and nucleus. It is involved in cellular stress responses and may modulate signaling pathways. The exact molecular function remains under investigation, but it is thought to interact with other proteins to regulate cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRRD Knockout HEK293 Cell Line | EDJ-KQ11663 | Human | 402055 | Details Get a Quote |
| SRRD Knockout A-549 Cell Line | EDJ-KQ40012 | Human | 402055 | Details Get a Quote |
| SRRD Knockout HCT 116 Cell Line | EDJ-KQ40013 | Human | 402055 | Details Get a Quote |
| SRRD Knockout HeLa Cell Line | EDJ-KQ40014 | Human | 402055 | Details Get a Quote |
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