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EXTL2 exostosin like glycosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 2135, updated on 24-Nov-2020

Summary

Official Symbol
EXTL2provided by HGNC
Official Full Name
exostosin like glycosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:3516
See related
Ensembl:ENSG00000162694 MIM:602411
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EXTR2
Expression
Ubiquitous expression in adrenal (RPKM 10.0), placenta (RPKM 9.1) and 25 other tissues See more
Orthologs

Genomic context

See EXTL2 in Genome Data Viewer
Location:
1p21.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (100872372..100895411, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (101337928..101361548, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 12 Neighboring gene vascular cell adhesion molecule 1 Neighboring gene solute carrier family 30 member 7 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 68 Neighboring gene diphthamide biosynthesis 5

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

Phenotypes

Associated conditions

Description Tests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-1,4-N-acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
glycosaminoglycan binding IEA
Inferred from Electronic Annotation
more info
 
manganese ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
N-acetylglucosamine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
UDP-N-acetylgalactosamine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
heparan sulfate proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
exostosin-like 2
Names
EXT-related protein 2
alpha-1,4-N-acetylhexosaminyltransferase EXTL2
alpha-GalNAcT EXTL2
exostoses (multiple)-like 2
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
processed exostosin-like 2
NP_001028197.1
NP_001248369.1
NP_001248370.1
NP_001248371.1
NP_001430.1
XP_005270678.1
XP_011539296.1
XP_011539297.1
XP_011539298.1
XP_016856140.1

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_001033025.3NP_001028197.1  exostosin-like 2 isoform 1

    See identical proteins and their annotated locations for NP_001028197.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC104506, AK312895
    Consensus CDS
    CCDS775.1
    UniProtKB/Swiss-Prot
    Q9UBQ6
    Related
    ENSP00000359132.3, ENST00000370114.8
    Conserved Domains (1) summary
    pfam09258
    Location:66313
    Glyco_transf_64; Glycosyl transferase family 64 domain
  2. NM_001261440.2NP_001248369.1  exostosin-like 2 isoform 2

    See identical proteins and their annotated locations for NP_001248369.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC104506, AK096914
    UniProtKB/TrEMBL
    Q8N8F1
    Conserved Domains (1) summary
    pfam09258
    Location:66312
    Glyco_transf_64; Glycosyl transferase family 64 domain
  3. NM_001261441.2NP_001248370.1  exostosin-like 2 isoform 3

    See identical proteins and their annotated locations for NP_001248370.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
    Source sequence(s)
    AC104506, AU130571
    Conserved Domains (1) summary
    pfam09258
    Location:74321
    Glyco_transf_64; Glycosyl transferase family 64 domain
  4. NM_001261442.2NP_001248371.1  exostosin-like 2 isoform 4

    See identical proteins and their annotated locations for NP_001248371.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC104506, BX103291
    Consensus CDS
    CCDS72831.1
    UniProtKB/TrEMBL
    F5GZK1
    Related
    ENSP00000444385.2, ENST00000535414.5
    Conserved Domains (1) summary
    pfam09258
    Location:66146
    Glyco_transf_64; Glycosyl transferase family 64 domain
  5. NM_001439.4NP_001430.1  exostosin-like 2 isoform 1

    See identical proteins and their annotated locations for NP_001430.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants and 2 encode the same isoform.
    Source sequence(s)
    AC104506, AF000416
    Consensus CDS
    CCDS775.1
    UniProtKB/Swiss-Prot
    Q9UBQ6
    Related
    ENSP00000359131.3, ENST00000370113.7
    Conserved Domains (1) summary
    pfam09258
    Location:66313
    Glyco_transf_64; Glycosyl transferase family 64 domain

RNA

  1. NR_048570.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC104506, AK298124, BP202626

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    100872372..100895411 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540994.2XP_011539296.1  exostosin-like 2 isoform X1

    See identical proteins and their annotated locations for XP_011539296.1

    Conserved Domains (1) summary
    pfam09258
    Location:74321
    Glyco_transf_64; Glycosyl transferase family 64 domain
  2. XM_011540995.2XP_011539297.1  exostosin-like 2 isoform X1

    See identical proteins and their annotated locations for XP_011539297.1

    Conserved Domains (1) summary
    pfam09258
    Location:74321
    Glyco_transf_64; Glycosyl transferase family 64 domain
  3. XM_005270621.1XP_005270678.1  exostosin-like 2 isoform X3

    See identical proteins and their annotated locations for XP_005270678.1

    UniProtKB/Swiss-Prot
    Q9UBQ6
    Conserved Domains (1) summary
    pfam09258
    Location:66313
    Glyco_transf_64; Glycosyl transferase family 64 domain
  4. XM_017000651.2XP_016856140.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q8N8F1
    Conserved Domains (1) summary
    pfam09258
    Location:66312
    Glyco_transf_64; Glycosyl transferase family 64 domain
  5. XM_011540996.2XP_011539298.1  exostosin-like 2 isoform X2

    Conserved Domains (1) summary
    pfam09258
    Location:74320
    Glyco_transf_64; Glycosyl transferase family 64 domain

RNA

  1. XR_001737037.1 RNA Sequence

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