Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8128
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ST8SIA2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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HsT19690, SIAT8-B, SIAT8B, ST8SIA-II, ST8SiaII, STX |
Chromosome
Chromosome number
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15 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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15q26.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be |
UniProt ID |
Q92186
|
Protein name |
Alpha-2,8-sialyltransferase 8B (EC 2.4.3.-) (Sialyltransferase 8B) (SIAT8-B) (Sialyltransferase St8Sia II) (ST8SiaII) (Sialyltransferase X) (STX) |
Protein function |
Catalyzes the transfer of a sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an N-linked glycan acceptor through alpha-2,8-linkages (Probable) (PubMed:10766765, PubMed:117 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00777
|
Glyco_transf_29 |
109 → 368 |
Glycosyltransferase family 29 (sialyltransferase) |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in fetal brain, kidney and heart and to a much lesser extent in adult heart and thymus. {ECO:0000269|PubMed:9054414}. |
Sequence |
|
Sequence length |
375 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Autism |
Autistic Disorder |
rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542 View all (8 more) |
20663923 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
17126533, 22693595, 24070986, 24057454, 16969366 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Colorectal Cancer |
Colorectal Cancer |
In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. |
|
GWAS, CBGDA |
Aplastic anemia |
Aplastic anemia |
|
|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acute Kidney Injury |
Stimulate
|
19752028 |
Affective Disorders Psychotic |
Associate
|
22693595 |
Autistic Disorder |
Associate
|
20663923, 22693595, 24651862 |
Bipolar Disorder |
Associate
|
22693595, 24651862, 26418860 |
Carcinoma Hepatocellular |
Associate
|
24255131 |
Central Nervous System Diseases |
Stimulate
|
19752028 |
Death |
Associate
|
12454157 |
Diarrhea |
Associate
|
12454157, 19752028 |
Esophageal Neoplasms |
Associate
|
33357046 |
Hemolytic Uremic Syndrome |
Associate
|
12454157 |
Meningioma |
Associate
|
34943806 |
Mental Disorders |
Associate
|
22693595 |
Neonatal Systemic lupus erythematosus |
Associate
|
22886516 |
Neoplasms |
Associate
|
23951351, 34544457, 34943806 |
Purpura Thrombotic Thrombocytopenic |
Associate
|
12454157 |
Schizophrenia |
Associate
|
22693595, 24651862, 26418860, 29353880, 30044798 |
Small Cell Lung Carcinoma |
Associate
|
23951351 |
Soft Tissue Injuries |
Associate
|
9657756 |
Vascular Diseases |
Stimulate
|
9657756 |
|