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ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 8128, updated on 1-Jun-2020

Summary

Official Symbol
ST8SIA2provided by HGNC
Official Full Name
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:10870
See related
Ensembl:ENSG00000140557 MIM:602546
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
STX; SIAT8B; SIAT8-B; HsT19690; ST8SiaII; ST8SIA-II
Summary
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 involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]
Expression
Biased expression in heart (RPKM 1.6), brain (RPKM 0.9) and 4 other tissues See more
Orthologs

Genomic context

See ST8SIA2 in Genome Data Viewer
Location:
15q26.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (92393881..92468728)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (92937140..93011958)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene double homeobox A pseudogene 6 Neighboring gene nucleophosmin 1 pseudogene 5 Neighboring gene enolase 1 pseudogene 2 Neighboring gene uncharacterized LOC104613533 Neighboring gene chromosome 15 putative open reading frame 32

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
NHGRI GWA Catalog
Genome-wide association study of bipolar I disorder in the Han Chinese population.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
NHGRI GWA Catalog
Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
NHGRI GWA Catalog
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
NHGRI GWA Catalog
Weight loss after gastric bypass is associated with a variant at 15q26.1.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116854, MGC116857

Gene Ontology Provided by GOA

Process Evidence Code Pubs
N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-glycan processing IDA
Inferred from Direct Assay
more info
PubMed 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
ganglioside biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
oligosaccharide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligosaccharide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
sialylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
alpha-2,8-sialyltransferase 8B
Names
ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 2
alpha-2,8-sialyltransferase 8B 1
sialyltransferase 8 (alpha-2, 8-sialytransferase) B
sialyltransferase 8B
sialyltransferase St8Sia II
sialyltransferase X

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001330416.1NP_001317345.1  alpha-2,8-sialyltransferase 8B isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC090985, AK313924, BC096205, BX537981, DR000431
    Consensus CDS
    CCDS81919.1
    UniProtKB/TrEMBL
    B2R9U8, C6G488, Q4VAY9
    Related
    ENSP00000437382.1, ENST00000539113.5
  2. NM_006011.4NP_006002.1  alpha-2,8-sialyltransferase 8B isoform 1 precursor

    See identical proteins and their annotated locations for NP_006002.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC090985, AC116162, AW163487, BC069584
    Consensus CDS
    CCDS10372.1
    UniProtKB/Swiss-Prot
    Q92186
    UniProtKB/TrEMBL
    B2R9U8
    Related
    ENSP00000268164.3, ENST00000268164.8
    Conserved Domains (1) summary
    pfam00777
    Location:109368
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    92393881..92468728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022642.1XP_016878131.1  alpha-2,8-sialyltransferase 8B isoform X1

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