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Q9UKY4

- POMT2_HUMAN

UniProt

Q9UKY4 - POMT2_HUMAN

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Protein

Protein O-mannosyl-transferase 2

Gene

POMT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

GO - Molecular functioni

  1. dolichyl-phosphate-mannose-protein mannosyltransferase activity Source: UniProtKB-EC
  2. metal ion binding Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Metal-binding

Enzyme and pathway databases

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
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:19743. POMT2.

Subcellular locationi

Endoplasmic reticulum membrane 2 Publications; Multi-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei54 – 7421HelicalSequence AnalysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence AnalysisAdd
BLAST
Transmembranei146 – 16621HelicalSequence AnalysisAdd
BLAST
Transmembranei191 – 21121HelicalSequence AnalysisAdd
BLAST
Transmembranei231 – 25121HelicalSequence AnalysisAdd
BLAST
Transmembranei283 – 30321HelicalSequence AnalysisAdd
BLAST
Transmembranei596 – 61621HelicalSequence AnalysisAdd
BLAST
Transmembranei643 – 66321HelicalSequence AnalysisAdd
BLAST
Transmembranei665 – 68521HelicalSequence AnalysisAdd
BLAST
Transmembranei700 – 72021HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]: An 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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti198 – 1981I → N in MDDGA2. 1 Publication
VAR_065038
Natural varianti353 – 3531G → S in MDDGA2. 2 Publications
VAR_065040
Natural varianti373 – 3731V → F in MDDGA2. 1 Publication
VAR_065041
Natural varianti413 – 4131R → P in MDDGA2. 1 Publication
Corresponds to variant rs190285831 [ dbSNP | Ensembl ].
VAR_065042
Natural varianti444 – 4452IN → LLWQ in MDDGA2. 1 Publication
VAR_065043
Natural varianti478 – 4781H → R in MDDGA2. 1 Publication
VAR_068968
Natural varianti482 – 4821G → V in MDDGA2. 1 Publication
VAR_065044
Natural varianti666 – 6661Y → C in MDDGB2 and MDDGA2. 4 Publications
VAR_065045
Natural varianti726 – 7261G → E in MDDGA2 and MDDGB2. 2 Publications
VAR_065047
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti246 – 2461G → D in MDDGB2. 1 Publication
VAR_065039
Natural varianti666 – 6661Y → C in MDDGB2 and MDDGA2. 4 Publications
VAR_065045
Natural varianti717 – 7171F → S in MDDGB2.
VAR_065046
Natural varianti726 – 7261G → E in MDDGA2 and MDDGB2. 2 Publications
VAR_065047
Natural varianti748 – 7481W → R in MDDGB2. 1 Publication
VAR_065048
Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158]: An 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti184 – 1841T → M in MDDGC2. 2 Publications
VAR_065037
Natural varianti748 – 7481W → S in MDDGC2. 1 Publication
VAR_065049

Keywords - Diseasei

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

Organism-specific databases

MIMi613150. phenotype.
613156. phenotype.
613158. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 750750Protein O-mannosyl-transferase 2PRO_0000121488Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi98 – 981N-linked (GlcNAc...)Sequence Analysis
Glycosylationi330 – 3301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi445 – 4451N-linked (GlcNAc...)Sequence Analysis
Glycosylationi528 – 5281N-linked (GlcNAc...)Sequence Analysis
Glycosylationi583 – 5831N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9UKY4.
PaxDbiQ9UKY4.
PRIDEiQ9UKY4.

PTM databases

PhosphoSiteiQ9UKY4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9UKY4.
CleanExiHS_POMT2.
ExpressionAtlasiQ9UKY4. baseline and differential.
GenevestigatoriQ9UKY4.

Organism-specific databases

HPAiHPA003663.

Interactioni

Subunit structurei

Interacts with POMT1.Curated

Protein-protein interaction databases

BioGridi118991. 10 interactions.
STRINGi9606.ENSP00000261534.

Structurei

3D structure databases

ProteinModelPortaliQ9UKY4.
SMRiQ9UKY4. Positions 337-502.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini334 – 39057MIR 1PROSITE-ProRule annotationAdd
BLAST
Domaini403 – 45957MIR 2PROSITE-ProRule annotationAdd
BLAST
Domaini464 – 52158MIR 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the glycosyltransferase 39 family.Curated
Contains 3 MIR domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1928.
GeneTreeiENSGT00740000115531.
HOGENOMiHOG000157526.
HOVERGENiHBG096391.
InParanoidiQ9UKY4.
KOiK00728.
OMAiWLCISRF.
OrthoDBiEOG79KPDP.
PhylomeDBiQ9UKY4.
TreeFamiTF300552.

Family and domain databases

InterProiIPR027005. GlyclTrfase_39_like.
IPR003342. Glyco_trans_39.
IPR016093. MIR_motif.
[Graphical view]
PANTHERiPTHR10050. PTHR10050. 1 hit.
PfamiPF02815. MIR. 1 hit.
PF02366. PMT. 1 hit.
[Graphical view]
SMARTiSM00472. MIR. 3 hits.
[Graphical view]
SUPFAMiSSF82109. SSF82109. 1 hit.
PROSITEiPS50919. MIR. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti53 – 531E → Q in AAF14118. (PubMed:12460945)Curated
Sequence conflicti53 – 531E → Q in AAM12046. (PubMed:12460945)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541A → E.
Corresponds to variant rs8177536 [ dbSNP | Ensembl ].
VAR_022083
Natural varianti184 – 1841T → M in MDDGC2. 2 Publications
VAR_065037
Natural varianti198 – 1981I → N in MDDGA2. 1 Publication
VAR_065038
Natural varianti246 – 2461G → D in MDDGB2. 1 Publication
VAR_065039
Natural varianti353 – 3531G → S in MDDGA2. 2 Publications
VAR_065040
Natural varianti373 – 3731V → F in MDDGA2. 1 Publication
VAR_065041
Natural varianti413 – 4131R → P in MDDGA2. 1 Publication
Corresponds to variant rs190285831 [ dbSNP | Ensembl ].
VAR_065042
Natural varianti444 – 4452IN → LLWQ in MDDGA2. 1 Publication
VAR_065043
Natural varianti478 – 4781H → R in MDDGA2. 1 Publication
VAR_068968
Natural varianti482 – 4821G → V in MDDGA2. 1 Publication
VAR_065044
Natural varianti666 – 6661Y → C in MDDGB2 and MDDGA2. 4 Publications
VAR_065045
Natural varianti717 – 7171F → S in MDDGB2.
VAR_065046
Natural varianti726 – 7261G → E in MDDGA2 and MDDGB2. 2 Publications
VAR_065047
Natural varianti748 – 7481W → R in MDDGB2. 1 Publication
VAR_065048
Natural varianti748 – 7481W → S in MDDGC2. 1 Publication
VAR_065049

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei83 – 750668Missing in isoform 2. 1 PublicationVSP_041457Add
BLAST

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.
UCSCiuc001xth.1. human. [Q9UKY4-1]

Polymorphism databases

DMDMi32171723.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

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 .
CCDSi CCDS9857.1. [Q9UKY4-1 ]
PIRi T48691.
RefSeqi NP_037514.2. NM_013382.5. [Q9UKY4-1 ]
UniGenei Hs.132989.

3D structure databases

ProteinModelPortali Q9UKY4.
SMRi Q9UKY4. Positions 337-502.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118991. 10 interactions.
STRINGi 9606.ENSP00000261534.

Protein family/group databases

CAZyi GT39. Glycosyltransferase Family 39.

PTM databases

PhosphoSitei Q9UKY4.

Polymorphism databases

DMDMi 32171723.

Proteomic databases

MaxQBi Q9UKY4.
PaxDbi Q9UKY4.
PRIDEi Q9UKY4.

Protocols and materials databases

DNASUi 29954.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261534 ; ENSP00000261534 ; ENSG00000009830 . [Q9UKY4-1 ]
ENST00000556326 ; ENSP00000450630 ; ENSG00000009830 . [Q9UKY4-2 ]
GeneIDi 29954.
KEGGi hsa:29954.
UCSCi uc001xth.1. human. [Q9UKY4-1 ]

Organism-specific databases

CTDi 29954.
GeneCardsi GC14M077741.
GeneReviewsi POMT2.
H-InvDB HIX0011845.
HGNCi HGNC:19743. POMT2.
HPAi HPA003663.
MIMi 607439. gene.
613150. phenotype.
613156. phenotype.
613158. phenotype.
neXtProti NX_Q9UKY4.
Orphaneti 206559. 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.
PharmGKBi PA134980627.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1928.
GeneTreei ENSGT00740000115531.
HOGENOMi HOG000157526.
HOVERGENi HBG096391.
InParanoidi Q9UKY4.
KOi K00728.
OMAi WLCISRF.
OrthoDBi EOG79KPDP.
PhylomeDBi Q9UKY4.
TreeFami TF300552.

Enzyme and pathway databases

UniPathwayi UPA00378 .

Miscellaneous databases

ChiTaRSi POMT2. human.
GeneWikii POMT2.
GenomeRNAii 29954.
NextBioi 52659.
PROi Q9UKY4.
SOURCEi Search...

Gene expression databases

Bgeei Q9UKY4.
CleanExi HS_POMT2.
ExpressionAtlasi Q9UKY4. baseline and differential.
Genevestigatori Q9UKY4.

Family and domain databases

InterProi IPR027005. GlyclTrfase_39_like.
IPR003342. Glyco_trans_39.
IPR016093. MIR_motif.
[Graphical view ]
PANTHERi PTHR10050. PTHR10050. 1 hit.
Pfami PF02815. MIR. 1 hit.
PF02366. PMT. 1 hit.
[Graphical view ]
SMARTi SM00472. MIR. 3 hits.
[Graphical view ]
SUPFAMi SSF82109. SSF82109. 1 hit.
PROSITEi PS50919. MIR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids."
    Willer T., Amselgruber W., Deutzmann R., Strahl S.
    Glycobiology 12:771-783(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), GLYCOSYLATION, SUBCELLULAR LOCATION.
    Tissue: Cerebellum.
  2. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Neuroblastoma.
  3. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 612-750.
    Tissue: Testis.
  6. "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity."
    Manya H., Chiba A., Yoshida A., Wang X., Chiba Y., Jigami Y., Margolis R.U., Endo T.
    Proc. Natl. Acad. Sci. U.S.A. 101:500-505(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, ENZYME REGULATION, SUBCELLULAR LOCATION.
  7. Cited for: INVOLVEMENT IN MDDGA2.
  8. Cited for: VARIANTS MDDGA2 SER-353 AND GLU-726.
  9. Cited for: VARIANT MDDGC2 MET-184.
  10. Cited for: VARIANTS MDDGA2 ASN-198; PHE-373; PRO-413 AND CYS-666, VARIANTS MDDGC2 MET-184 AND SER-748.
  11. "New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation."
    Yanagisawa A., Bouchet C., Van den Bergh P.Y., Cuisset J.M., Viollet L., Leturcq F., Romero N.B., Quijano-Roy S., Fardeau M., Seta N., Guicheney P.
    Neurology 69:1254-1260(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MDDGB2 CYS-666 AND ARG-748.
  12. "POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation."
    Yanagisawa A., Bouchet C., Quijano-Roy S., Vuillaumier-Barrot S., Clarke N., Odent S., Rodriguez D., Romero N.B., Osawa M., Endo T., Taratuto A.L., Seta N., Guicheney P.
    Eur. J. Med. Genet. 52:201-206(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MDDGA2 VAL-482; 444-ILE-ASN-445 DELINS LEU-LEU-TRP-GLN AND CYS-666.
  13. Cited for: VARIANTS MDDGB2 ASP-246; SER-353; CYS-666 AND GLU-726.
  14. Cited for: VARIANT MDDGA2 ARG-478.

Entry informationi

Entry nameiPOMT2_HUMAN
AccessioniPrimary (citable) accession number: Q9UKY4
Secondary accession number(s): Q9NSG6, Q9P1W0, Q9P1W2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: June 20, 2003
Last modified: November 26, 2014
This is version 133 of the entry and version 2 of the sequence. [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

External Data

Dasty 3