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POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) [ Homo sapiens (human) ]

Gene ID: 84892, updated on 27-Nov-2024

Summary

Official Symbol
POMGNT2provided by HGNC
Official Full Name
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)provided by HGNC
Primary source
HGNC:HGNC:25902
See related
Ensembl:ENSG00000144647 MIM:614828; AllianceGenome:HGNC:25902
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
AGO61; GTDC2; MDDGA8; MDDGC8; C3orf39
Summary
This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
Expression
Ubiquitous expression in endometrium (RPKM 11.1), brain (RPKM 9.1) and 25 other tissues See more
Orthologs
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Genomic context

See POMGNT2 in Genome Data Viewer
Location:
3p22.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (43079234..43106079, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (43094564..43121424, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43120726..43147571, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene KRBOX1 antisense RNA 1 Neighboring gene KRAB box domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43025326-43025826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43025827-43026327 Neighboring gene golgi associated kinase 1A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43104067-43104586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43121119-43121620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43121621-43122120 Neighboring gene uncharacterized LOC107986079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43138968-43139468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43139469-43139969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14253 Neighboring gene uncharacterized LOC105377051 Neighboring gene Sharpr-MPRA regulatory regions 3209 and 6245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19752 Neighboring gene uncharacterized LOC105377052

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ14566

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein O-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein O-linked glycosylation TAS
Traceable Author Statement
more info
 
involved_in protein O-linked mannosylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein O-linked mannosylation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
Names
glycosyltransferase-like domain containing 2
glycosyltransferase-like domain-containing protein 2
protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2
NP_116195.2
XP_005265572.1
XP_011532465.1
XP_016862842.1
XP_054204124.1
XP_054204125.1
XP_054204126.1

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_032930.1 RefSeqGene

    Range
    5005..31850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_706

mRNA and Protein(s)

  1. NM_032806.6NP_116195.2  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

    See identical proteins and their annotated locations for NP_116195.2

    Status: VALIDATED

    Source sequence(s)
    AC092042, BC060861
    Consensus CDS
    CCDS2709.1
    UniProtKB/Swiss-Prot
    B3KWC3, Q8NAT1, Q96SY3
    Related
    ENSP00000344125.2, ENST00000344697.3
    Conserved Domains (2) summary
    cd00063
    Location:493580
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam04577
    Location:264395
    DUF563; Protein of unknown function (DUF563)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    43079234..43106079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534163.3XP_011532465.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011532465.1

    UniProtKB/Swiss-Prot
    B3KWC3, Q8NAT1, Q96SY3
    Related
    ENSP00000509610.1, ENST00000687440.1
    Conserved Domains (2) summary
    cd00063
    Location:493580
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam04577
    Location:264395
    DUF563; Protein of unknown function (DUF563)
  2. XM_005265515.4XP_005265572.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_005265572.1

    UniProtKB/Swiss-Prot
    B3KWC3, Q8NAT1, Q96SY3
    Related
    ENSP00000408992.1, ENST00000441964.1
    Conserved Domains (2) summary
    cd00063
    Location:493580
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam04577
    Location:264395
    DUF563; Protein of unknown function (DUF563)
  3. XM_017007353.2XP_016862842.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    B3KWC3, Q8NAT1, Q96SY3
    Related
    ENSP00000509123.1, ENST00000686643.1
    Conserved Domains (2) summary
    cd00063
    Location:493580
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam04577
    Location:264395
    DUF563; Protein of unknown function (DUF563)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    43094564..43121424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348150.1XP_054204125.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    B3KWC3, Q8NAT1, Q96SY3
  2. XM_054348149.1XP_054204124.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    B3KWC3, Q8NAT1, Q96SY3
  3. XM_054348151.1XP_054204126.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    B3KWC3, Q8NAT1, Q96SY3