SSC5D (Scavenger Receptor Cysteine Rich Domain Containing) Gene
A comprehensive biomedical overview of the SSC5D gene, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | SSC5D |
|---|---|
| Full Name | Scavenger Receptor Cysteine Rich Domain Containing |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 284297 ncbi.nlm.nih.gov/gene/284297 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | A1L4H1 |
| OMIM ID | 617681 |
| HGNC ID | 26713 |
| Aliases | S5D, DKFZp686L2423 |
Description
SSC5D encodes a protein that belongs to the scavenger receptor cysteine-rich (SRCR) superfamily. SRCR proteins are involved in innate immunity and can act as pattern recognition receptors. SSC5D is a secreted protein, and its exact function is not fully characterized, but it is thought to participate in immune modulation and possibly in tissue remodeling. The gene is located on chromosome 19q13.43 and is expressed in various tissues, with notable expression in the placenta and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease association found in OMIM or ClinVar as of the last update. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.1 | Medium |
| Testis | 8.7 | Low |
| Lung | 4.2 | Low |
| Spleen | 3.5 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not applicable | No pathogenic or likely pathogenic variants reported in ClinVar for SSC5D. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations causing disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • scavenger receptor activity | • protein binding |
| • extracellular region | • membrane |
Pathways
• Innate Immune System
• Scavenging of heme from plasma
Protein Summary
The SSC5D protein is a secreted glycoprotein containing SRCR domains. SRCR domains are known to bind to various ligands, including bacteria and oxidized lipids. SSC5D may play a role in host defense by recognizing pathogen-associated molecular patterns. Its expression in placenta suggests a potential role in maternal-fetal immune interaction. However, detailed functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSC5D Knockout HEK293 Cell Line | EDJ-KQ15515 | Human | 284297 | Details Get a Quote |
| SSC5D Knockout HeLa Cell Line | EDJ-KQ46332 | Human | 284297 | Details Get a Quote |
| SSC5D Knockout A-549 Cell Line | EDJ-KQ67912 | Human | 284297 | Details Get a Quote |
| SSC5D Knockout HCT 116 Cell Line | EDJ-KQ76291 | Human | 284297 | Details Get a Quote |
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