| Gene Information | |
|---|---|
| Gene Name | SMBP2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 993 |
| Protein Names | DNA-binding protein SMUBP-2 (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent helicase IGHMBP2) (Glial factor 1) (GF-1) (Immunoglobulin mu-binding protein 2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P38935 |
| Gene Card | IGHMBP2 |
| Uniprot ID | P38935 |
| Pfam | PF13086; PF13087; PF01424; PF01428 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts. {ECO:0000269|PubMed:25439726}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1MSZ (NMR - ) 2LRR (NMR - ) 4B3F (X-ray 2.50A ) 4B3G (X-ray 2.85A ) |
| DBSNP | rs1594412120 rs2228206 rs879253996 rs1594422506 rs560096 rs724159958 rs137852666 rs1594422676 rs1594422709 rs1594427373 rs1594427489 rs10896380 rs1594431740 rs201060167 rs1594445394 rs137852670 rs724159959 rs776730737 rs759641927 rs1555247218 rs571142182 rs1594451536 rs780594709 rs137852665 rs724159960 rs7122089 rs770111639 rs775542203 rs1483165002 rs137852667 rs1594454382 rs1594454388 rs1465803265 rs151079750 rs201563456 rs622082 rs2236654 rs17612126 rs2275996 rs147674615 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:19299493}. Cytoplasm {ECO:0000269|PubMed:19299493}. Cell projection, axon {ECO:0000250|UniProtKB:P40694}. |
| Mouse PG classification | NA |
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