| Entrez Gene ID | 7903 |
|---|---|
| Official Gene Symbol | ST8SIA4 (GeneCards) |
| Full name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 |
| Location | 5q21.1 |
| Other ids | Vega : OTTHUMG00000128727 MIM : 602547 HGNC : HGNC:10871 Ensembl : ENSG00000113532 |
| Other names | PST, PST1, SIAT8D, ST8SIA-IV |
| Summary | The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
Found 16 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7619 | 7903 | ST8SIA4 | 5 | 101231631 | 101231631 | Asymptomatic | HiSeq X Ten |
| 7626 | 7903 | ST8SIA4 | 5 | 100875902 | 100875902 | Asymptomatic | HiSeq X Ten |
| 7878 | 7903 | ST8SIA4 | 5 | 100195706 | 100195706 | Asymptomatic | HiSeq X Ten |
| 7917 | 7903 | ST8SIA4 | 5 | 101523371 | 101523371 | Asymptomatic | HiSeq X Ten |
| 7965 | 7903 | ST8SIA4 | 5 | 101200211 | 101200211 | Asymptomatic | HiSeq X Ten |
| 7984 | 7903 | ST8SIA4 | 5 | 101202684 | 101202684 | Asymptomatic | HiSeq X Ten |
| 8021 | 7903 | ST8SIA4 | 5 | 101274607 | 101274607 | Asymptomatic | HiSeq X Ten |
| 8408 | 7903 | ST8SIA4 | 5 | 101403273 | 101403273 | Asymptomatic | HiSeq X Ten |
| 8560 | 7903 | ST8SIA4 | 5 | 101134310 | 101134310 | Asymptomatic | HiSeq X Ten |
| 8617 | 7903 | ST8SIA4 | 5 | 100330572 | 100330572 | Cockayne syndrome | HiSeq X Ten |
| 8692 | 7903 | ST8SIA4 | 5 | 100508710 | 100508710 | Cockayne syndrome | HiSeq X Ten |
| 8730 | 7903 | ST8SIA4 | 5 | 100816671 | 100816671 | Cockayne syndrome | HiSeq X Ten |
| 8858 | 7903 | ST8SIA4 | 5 | 101567821 | 101567821 | Xeroderma Pigmentosum | HiSeq X Ten |
| 22981 | 7903 | ST8SIA4 | 5 | 101347802 | 101347802 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25774 | 7903 | ST8SIA4 | 5 | 101466837 | 101466837 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 25858 | 7903 | ST8SIA4 | 5 | 101466837 | 101466837 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |