SUCO Gene (SUN Domain Containing, Ossification Factor)
Comprehensive genomic and functional overview of SUCO, a gene involved in osteoblast differentiation and bone formation.
Gene Information Card
| Symbol | SUCO |
|---|---|
| Full Name | SUN Domain Containing, Ossification Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 51430 ncbi.nlm.nih.gov/gene/51430 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9UBS9 |
| OMIM ID | 619146 |
| HGNC ID | 28989 |
| Aliases | HSPC135, OPT, dJ1181N3.1 |
Description
SUCO (SUN domain containing, ossification factor) encodes a protein that localizes to the nuclear envelope and is involved in osteoblast differentiation and bone mineralization. It interacts with the SUN domain family and plays a role in nuclear positioning and cytoskeletal organization. The gene is expressed in multiple tissues with highest levels in bone and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis imperfecta | Impaired osteoblast differentiation and bone matrix formation due to SUCO loss-of-function variants | ClinVar, OMIM |
| Bone mineral density variation | Modulation of ossification pathways; association studies | NCBI Gene, GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Heart | 6.1 | Low |
| Lung | 4.7 | Low |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-HME1 (mammary epithelial) | 5.0 | Low expression |
| U-2 OS (osteosarcoma) | 15.2 | Medium expression |
| HeLa (cervical carcinoma) | 3.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; predicted loss of function |
| c.742C>T (p.Arg248*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.1054G>A (p.Gly352Ser) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • nuclear envelope (GO:0005635) | • cytoplasm (GO:0005737) |
| • cytoskeleton (GO:0005856) | • ossification (GO:0001503) |
| • cell differentiation (GO:0030154) | • osteoblast differentiation (GO:0001649) |
Pathways
• Nuclear envelope organization
• Osteoblast differentiation and bone mineralization
Protein Summary
The SUCO protein contains a SUN domain and localizes to the nuclear envelope. It is involved in connecting the nucleoskeleton to the cytoskeleton, facilitating nuclear positioning and cell migration. In osteoblasts, SUCO promotes differentiation and mineralization, likely through interactions with SUN1 and SUN2. Loss of function leads to impaired bone formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUCO Knockout HEK293 Cell Line | EDJ-KQ10389 | Human | 51430 | Details Get a Quote |
| SUCO Knockout A-549 Cell Line | EDJ-KQ39036 | Human | 51430 | Details Get a Quote |
| SUCO Knockout HCT 116 Cell Line | EDJ-KQ39038 | Human | 51430 | Details Get a Quote |
| SUCO Knockout HeLa Cell Line | EDJ-KQ39039 | Human | 51430 | Details Get a Quote |
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