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Protein

Protein O-mannosyl-transferase 2

Gene

POMT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.1 Publication

Catalytic activityi

Dolichyl D-mannosyl phosphate + protein = dolichyl phosphate + O-D-mannosylprotein.1 Publication

Enzyme regulationi

Slightly activated by Mg2+ and inhibited by both Ca+ and Mn2+. EDTA ha no effect on activity in vitro.1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandMetal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00268-MONOMER
BRENDAi2.4.1.109 2681
ReactomeiR-HSA-5083629 Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
R-HSA-5173105 O-linked glycosylation
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT39 Glycosyltransferase Family 39

Names & Taxonomyi

Protein namesi
Recommended name:
Protein O-mannosyl-transferase 2 (EC:2.4.1.109)
Alternative name(s):
Dolichyl-phosphate-mannose--protein mannosyltransferase 2
Gene namesi
Name:POMT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000009830.11
HGNCiHGNC:19743 POMT2
MIMi607439 gene
neXtProtiNX_Q9UKY4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei54 – 74HelicalSequence analysisAdd BLAST21
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Transmembranei146 – 166HelicalSequence analysisAdd BLAST21
Transmembranei191 – 211HelicalSequence analysisAdd BLAST21
Transmembranei231 – 251HelicalSequence analysisAdd BLAST21
Transmembranei283 – 303HelicalSequence analysisAdd BLAST21
Transmembranei596 – 616HelicalSequence analysisAdd BLAST21
Transmembranei643 – 663HelicalSequence analysisAdd BLAST21
Transmembranei665 – 685HelicalSequence analysisAdd BLAST21
Transmembranei700 – 720HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
See also OMIM:613150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065038198I → N in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs267606972EnsemblClinVar.1
Natural variantiVAR_065040353G → S in MDDGA2. 2 PublicationsCorresponds to variant dbSNP:rs267606970EnsemblClinVar.1
Natural variantiVAR_065041373V → F in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs267606965EnsemblClinVar.1
Natural variantiVAR_065042413R → P in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs190285831EnsemblClinVar.1
Natural variantiVAR_065043444 – 445IN → LLWQ in MDDGA2. 1 Publication2
Natural variantiVAR_068968478H → R in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs765346043Ensembl.1
Natural variantiVAR_065044482G → V in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs267606968EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.
See also OMIM:613156
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065039246G → D in MDDGB2. 1 PublicationCorresponds to variant dbSNP:rs267606966EnsemblClinVar.1
Natural variantiVAR_065046717F → S in MDDGB2. 1
Natural variantiVAR_065048748W → R in MDDGB2. 1 PublicationCorresponds to variant dbSNP:rs267606964EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal.
See also OMIM:613158
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065037184T → M in MDDGC2. 2 PublicationsCorresponds to variant dbSNP:rs267606971EnsemblClinVar.1
Natural variantiVAR_065049748W → S in MDDGC2. 1 PublicationCorresponds to variant dbSNP:rs267606967EnsemblClinVar.1

Keywords - Diseasei

Congenital muscular dystrophy, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

Organism-specific databases

DisGeNETi29954
GeneReviewsiPOMT2
MalaCardsiPOMT2
MIMi613150 phenotype
613156 phenotype
613158 phenotype
OpenTargetsiENSG00000009830
Orphaneti206559 Autosomal recessive limb-girdle muscular dystrophy type 2N
370959 Congenital muscular dystrophy with cerebellar involvement
370968 Congenital muscular dystrophy with intellectual disability
588 Muscle-eye-brain disease
899 Walker-Warburg syndrome
PharmGKBiPA134980627

Polymorphism and mutation databases

BioMutaiPOMT2
DMDMi32171723

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001214881 – 750Protein O-mannosyl-transferase 2Add BLAST750

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei41PhosphoserineCombined sources1
Glycosylationi98N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi330N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi445N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi528N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi583N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9UKY4
PeptideAtlasiQ9UKY4
PRIDEiQ9UKY4

PTM databases

iPTMnetiQ9UKY4
PhosphoSitePlusiQ9UKY4

Expressioni

Tissue specificityi

Highly expressed in testis; detected at low levels in most tissues.

Gene expression databases

BgeeiENSG00000009830
CleanExiHS_POMT2
ExpressionAtlasiQ9UKY4 baseline and differential
GenevisibleiQ9UKY4 HS

Organism-specific databases

HPAiHPA003663

Interactioni

Subunit structurei

Interacts with POMT1.Curated

Protein-protein interaction databases

BioGridi118991, 30 interactors
STRINGi9606.ENSP00000261534

Structurei

3D structure databases

ProteinModelPortaliQ9UKY4
SMRiQ9UKY4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini334 – 390MIR 1PROSITE-ProRule annotationAdd BLAST57
Domaini403 – 459MIR 2PROSITE-ProRule annotationAdd BLAST57
Domaini464 – 521MIR 3PROSITE-ProRule annotationAdd BLAST58

Sequence similaritiesi

Belongs to the glycosyltransferase 39 family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3359 Eukaryota
COG1928 LUCA
GeneTreeiENSGT00910000144161
HOGENOMiHOG000157526
HOVERGENiHBG096391
InParanoidiQ9UKY4
KOiK00728
OMAiLTFDTGC
OrthoDBiEOG091G02QX
PhylomeDBiQ9UKY4
TreeFamiTF300552

Family and domain databases

InterProiView protein in InterPro
IPR027005 GlyclTrfase_39-like
IPR003342 Glyco_trans_39/83
IPR036300 MIR_dom_sf
IPR016093 MIR_motif
IPR032421 PMT_4TMC
PANTHERiPTHR10050 PTHR10050, 1 hit
PfamiView protein in Pfam
PF02815 MIR, 1 hit
PF02366 PMT, 1 hit
PF16192 PMT_4TMC, 1 hit
SMARTiView protein in SMART
SM00472 MIR, 3 hits
SUPFAMiSSF82109 SSF82109, 1 hit
PROSITEiView protein in PROSITE
PS50919 MIR, 3 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UKY4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPPATGGGLA ESELRPRRGR CGPQAARAAG RDVAAEAVAR SPKRPAWGSR
60 70 80 90 100
RFEAVGWWAL LALVTLLSFA TRFHRLDEPP HICWDETHFG KMGSYYINRT
110 120 130 140 150
FFFDVHPPLG KMLIGLAGYL SGYDGTFLFQ KPGDKYEHHS YMGMRGFCAF
160 170 180 190 200
LGSWLVPFAY LTVLDLSKSL SAALLTAALL TFDTGCLTLS QYILLDPILM
210 220 230 240 250
FFIMAAMLSM VKYNSCADRP FSAPWWFWLS LTGVSLAGAL GVKFVGLFII
260 270 280 290 300
LQVGLNTIAD LWYLFGDLSL SLVTVGKHLT ARVLCLIVLP LALYTATFAV
310 320 330 340 350
HFMVLSKSGP GDGFFSSAFQ ARLSGNNLHN ASIPEHLAYG SVITVKNLRM
360 370 380 390 400
AIGYLHSHRH LYPEGIGARQ QQVTTYLHKD YNNLWIIKKH NTNSDPLDPS
410 420 430 440 450
FPVEFVRHGD IIRLEHKETS RNLHSHYHEA PMTRKHYQVT GYGINGTGDS
460 470 480 490 500
NDFWRIEVVN RKFGNRIKVL RSRIRFIHLV TGCVLGSSGK VLPKWGWEQL
510 520 530 540 550
EVTCTPYLKE TLNSIWNVED HINPKLPNIS LDVLQPSFPE ILLESHMVMI
560 570 580 590 600
RGNSGLKPKD NEFTSKPWHW PINYQGLRFS GVNDTDFRVY LLGNPVVWWL
610 620 630 640 650
NLLSIALYLL SGSIIAVAMQ RGARLPAEVA GLSQVLLRGG GQVLLGWTLH
660 670 680 690 700
YFPFFLMGRV LYFHHYFPAM LFSSMLTGIL WDTLLRLCAW GLASWPLARG
710 720 730 740 750
IHVAGILSLL LGTAYSFYLF HPLAYGMVGP LAQDPQSPMA GLRWLDSWDF
Length:750
Mass (Da):84,214
Last modified:June 20, 2003 - v2
Checksum:i79732D6C4978CFB9
GO
Isoform 2 (identifier: Q9UKY4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-750: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:82
Mass (Da):8,899
Checksum:iFFC305699BA89C4F
GO

Sequence cautioni

The sequence CAD62348 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti53E → Q in AAF14118 (PubMed:12460945).Curated1
Sequence conflicti53E → Q in AAM12046 (PubMed:12460945).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02208354A → E. Corresponds to variant dbSNP:rs8177536EnsemblClinVar.1
Natural variantiVAR_065037184T → M in MDDGC2. 2 PublicationsCorresponds to variant dbSNP:rs267606971EnsemblClinVar.1
Natural variantiVAR_065038198I → N in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs267606972EnsemblClinVar.1
Natural variantiVAR_065039246G → D in MDDGB2. 1 PublicationCorresponds to variant dbSNP:rs267606966EnsemblClinVar.1
Natural variantiVAR_065040353G → S in MDDGA2. 2 PublicationsCorresponds to variant dbSNP:rs267606970EnsemblClinVar.1
Natural variantiVAR_065041373V → F in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs267606965EnsemblClinVar.1
Natural variantiVAR_065042413R → P in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs190285831EnsemblClinVar.1
Natural variantiVAR_065043444 – 445IN → LLWQ in MDDGA2. 1 Publication2
Natural variantiVAR_068968478H → R in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs765346043Ensembl.1
Natural variantiVAR_065044482G → V in MDDGA2. 1 PublicationCorresponds to variant dbSNP:rs267606968EnsemblClinVar.1
Natural variantiVAR_065045666Y → C in MDDGB2 and MDDGA2. 4 PublicationsCorresponds to variant dbSNP:rs200198778EnsemblClinVar.1
Natural variantiVAR_065046717F → S in MDDGB2. 1
Natural variantiVAR_065047726G → E in MDDGA2 and MDDGB2. 2 PublicationsCorresponds to variant dbSNP:rs267606969EnsemblClinVar.1
Natural variantiVAR_065048748W → R in MDDGB2. 1 PublicationCorresponds to variant dbSNP:rs267606964EnsemblClinVar.1
Natural variantiVAR_065049748W → S in MDDGC2. 1 PublicationCorresponds to variant dbSNP:rs267606967EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04145783 – 750Missing in isoform 2. 1 PublicationAdd BLAST668

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF105020 mRNA Translation: AAF14118.1
AY090480 mRNA Translation: AAM12046.1
BX248027 mRNA Translation: CAD62348.1 Sequence problems.
AC007954 Genomic DNA Translation: AAF62558.1
AC007375 Genomic DNA Translation: AAF63184.1
BC031651 mRNA Translation: AAH31651.1
AL353956 mRNA Translation: CAB89256.1
CCDSiCCDS9857.1 [Q9UKY4-1]
PIRiT48691
RefSeqiNP_037514.2, NM_013382.5 [Q9UKY4-1]
UniGeneiHs.132989

Genome annotation databases

EnsembliENST00000261534; ENSP00000261534; ENSG00000009830 [Q9UKY4-1]
ENST00000556326; ENSP00000450630; ENSG00000009830 [Q9UKY4-2]
GeneIDi29954
KEGGihsa:29954
UCSCiuc001xti.3 human [Q9UKY4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPOMT2_HUMAN
AccessioniPrimary (citable) accession number: Q9UKY4
Secondary accession number(s): Q9NSG6, Q9P1W0, Q9P1W2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: June 20, 2003
Last modified: May 23, 2018
This is version 163 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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