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Protein

Phosphomannomutase 2

Gene

PMM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.By similarity

Catalytic activityi

Alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.

Kineticsi

  1. KM=16 µM for alpha-D-mannose 1-phosphate1 Publication
  2. KM=13.5 µM for alpha-D-glucose 1-phosphate1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei12 – 121NucleophileBy similarity
    Active sitei14 – 141Proton donor/acceptorSequence Analysis
    Binding sitei21 – 211SubstrateBy similarity
    Binding sitei123 – 1231SubstrateBy similarity
    Binding sitei134 – 1341SubstrateBy similarity
    Binding sitei141 – 1411SubstrateBy similarity
    Binding sitei179 – 1791SubstrateBy similarity
    Binding sitei181 – 1811SubstrateBy similarity

    GO - Molecular functioni

    • phosphomannomutase activity Source: ProtInc

    GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Isomerase

    Enzyme and pathway databases

    BRENDAi5.4.2.8. 2681.
    ReactomeiREACT_22423. Synthesis of GDP-mannose.
    SABIO-RKO15305.
    UniPathwayiUPA00126; UER00424.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphomannomutase 2 (EC:5.4.2.8)
    Short name:
    PMM 2
    Gene namesi
    Name:PMM2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640 Componenti: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:9115. PMM2.

    Subcellular locationi

    GO - Cellular componenti

    • cytosol Source: Reactome
    • extracellular exosome Source: UniProtKB
    • neuronal cell body Source: Ensembl
    Complete GO annotation...

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1A (CDG1A)13 Publications

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionA multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.

    See also OMIM:212065
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91C → Y in CDG1A. 3 Publications
    VAR_022469
    Natural varianti11 – 111F → C in CDG1A. 2 Publications
    VAR_022470
    Natural varianti15 – 151G → E in CDG1A. 1 Publication
    VAR_022471
    Natural varianti20 – 201P → S in CDG1A; reduction of activity. 1 Publication
    VAR_022472
    Natural varianti32 – 321L → R in CDG1A. 2 Publications
    VAR_022473
    Natural varianti37 – 371Q → H in CDG1A; partial loss of activity. 1 Publication
    VAR_022474
    Natural varianti44 – 441V → A in CDG1A. 2 Publications
    VAR_006093
    Natural varianti44 – 441V → L in CDG1A. 1 Publication
    VAR_022563
    Natural varianti64 – 641Y → C in CDG1A. 1 Publication
    VAR_022476
    Natural varianti65 – 651D → Y in CDG1A. 2 Publications
    VAR_006094
    Natural varianti67 – 671V → M in CDG1A. 2 Publications
    VAR_022477
    Natural varianti69 – 691P → S in CDG1A. 2 Publications
    VAR_022478
    Natural varianti76 – 761Y → C in CDG1A. 1 Publication
    VAR_022479
    Natural varianti93 – 931E → A in CDG1A. 1 Publication
    VAR_022480
    Natural varianti101 – 1011N → K in CDG1A. 1 Publication
    VAR_006095
    Natural varianti103 – 1031C → F in CDG1A. 2 Publications
    VAR_022481
    Natural varianti104 – 1041L → V in CDG1A. 1 Publication
    VAR_012344
    Natural varianti106 – 1061Y → C in CDG1A. 1 Publication
    VAR_006096
    Natural varianti108 – 1081A → V in CDG1A. 2 Publications
    VAR_006097
    Natural varianti113 – 1131P → L in CDG1A. 3 Publications
    VAR_006098
    Natural varianti117 – 1171G → R in CDG1A; loss of activity. 4 Publications
    VAR_006099
    Natural varianti119 – 1191F → L in CDG1A; partial loss of activity. 5 Publications
    VAR_006100
    Natural varianti120 – 1201I → T in CDG1A. 1 Publication
    VAR_022482
    Natural varianti123 – 1231R → Q in CDG1A. 3 Publications
    VAR_006101
    Natural varianti129 – 1291V → M in CDG1A. 3 Publications
    Corresponds to variant rs28938475 [ dbSNP | Ensembl ].
    VAR_006102
    Natural varianti131 – 1311P → A in CDG1A. 2 Publications
    VAR_006103
    Natural varianti132 – 1321I → F in CDG1A; slightly reduced activity. 1 Publication
    VAR_022483
    Natural varianti132 – 1321I → N in CDG1A. 2 Publications
    VAR_022484
    Natural varianti132 – 1321I → T in CDG1A. 2 Publications
    VAR_006104
    Natural varianti139 – 1391E → K in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity. 3 Publications
    VAR_009232
    Natural varianti141 – 1411R → C in CDG1A; loss of activity. 1 Publication
    VAR_022485
    Natural varianti141 – 1411R → H in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life. 6 Publications
    Corresponds to variant rs28936415 [ dbSNP | Ensembl ].
    VAR_006105
    Natural varianti144 – 1441F → L in CDG1A. 1 Publication
    Corresponds to variant rs150719105 [ dbSNP | Ensembl ].
    VAR_022486
    Natural varianti148 – 1481D → N in CDG1A. 2 Publications
    VAR_022487
    Natural varianti151 – 1511E → G in CDG1A. 1 Publication
    VAR_022488
    Natural varianti153 – 1531I → T in CDG1A. 2 Publications
    VAR_022489
    Natural varianti157 – 1571F → S in CDG1A. 2 Publications
    Corresponds to variant rs190521996 [ dbSNP | Ensembl ].
    VAR_022490
    Natural varianti162 – 1621R → W in CDG1A. 2 Publications
    VAR_006106
    Natural varianti172 – 1721F → V in CDG1A. 2 Publications
    VAR_022491
    Natural varianti175 – 1751G → R in CDG1A. 2 Publications
    VAR_006107
    Natural varianti176 – 1761G → V in CDG1A; loss of activity. 1 Publication
    VAR_022492
    Natural varianti177 – 1771Q → H in CDG1A; partial loss of activity. 1 Publication
    VAR_022493
    Natural varianti183 – 1831F → S in CDG1A. 3 Publications
    VAR_022494
    Natural varianti185 – 1851D → G in CDG1A. 2 Publications
    VAR_022495
    Natural varianti188 – 1881D → G in CDG1A; severe. 1 Publication
    VAR_006108
    Natural varianti192 – 1921C → G in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications
    VAR_022496
    Natural varianti195 – 1951H → R in CDG1A. 1 Publication
    VAR_022497
    Natural varianti197 – 1971E → A in CDG1A. 2 Publications
    Corresponds to variant rs34258285 [ dbSNP | Ensembl ].
    VAR_022498
    Natural varianti206 – 2061F → S in CDG1A. 1 Publication
    VAR_022499
    Natural varianti208 – 2081G → A in CDG1A. 2 Publications
    VAR_006109
    Natural varianti214 – 2141G → S in CDG1A. 2 Publications
    VAR_022500
    Natural varianti216 – 2161N → I in CDG1A. 1 Publication
    Corresponds to variant rs78290141 [ dbSNP | Ensembl ].
    VAR_006110
    Natural varianti216 – 2161N → S in CDG1A. 2 Publications
    Corresponds to variant rs78290141 [ dbSNP | Ensembl ].
    VAR_022501
    Natural varianti217 – 2171D → E in CDG1A. 2 Publications
    VAR_022502
    Natural varianti218 – 2181H → L in CDG1A. 1 Publication
    VAR_022503
    Natural varianti223 – 2231D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 4 Publications
    VAR_006111
    Natural varianti223 – 2231D → N in CDG1A. 1 Publication
    VAR_022504
    Natural varianti226 – 2261T → S in CDG1A. 2 Publications
    VAR_022505
    Natural varianti228 – 2281G → C in CDG1A. 1 Publication
    VAR_022506
    Natural varianti228 – 2281G → R in CDG1A. 2 Publications
    VAR_022507
    Natural varianti229 – 2291Y → S in CDG1A. 2 Publications
    VAR_006112
    Natural varianti231 – 2311V → M in CDG1A. 5 Publications
    VAR_006113
    Natural varianti233 – 2331A → T in CDG1A; unknown pathological significance. 1 Publication
    VAR_006114
    Natural varianti237 – 2371T → M in CDG1A. 3 Publications
    Corresponds to variant rs80338708 [ dbSNP | Ensembl ].
    VAR_006115
    Natural varianti237 – 2371T → R in CDG1A; loss of activity. 4 Publications
    Corresponds to variant rs80338708 [ dbSNP | Ensembl ].
    VAR_022508
    Natural varianti238 – 2381R → G in CDG1A. 1 Publication
    VAR_022509
    Natural varianti238 – 2381R → P in CDG1A. 1 Publication
    VAR_006116
    Natural varianti241 – 2411C → S in CDG1A. 2 Publications
    VAR_022510

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    MIMi212065. phenotype.
    Orphaneti79318. PMM2-CDG.
    PharmGKBiPA33441.

    Polymorphism and mutation databases

    BioMutaiPMM2.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 246245Phosphomannomutase 2PRO_0000199694Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications
    Modified residuei149 – 1491N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO15305.
    PaxDbiO15305.
    PeptideAtlasiO15305.
    PRIDEiO15305.

    PTM databases

    PhosphoSiteiO15305.

    Expressioni

    Gene expression databases

    BgeeiO15305.
    CleanExiHS_PMM2.
    ExpressionAtlasiO15305. baseline.
    GenevisibleiO15305. HS.

    Organism-specific databases

    HPAiHPA040852.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACY3Q96HD93EBI-10182608,EBI-3916242

    Protein-protein interaction databases

    BioGridi111386. 5 interactions.
    IntActiO15305. 1 interaction.
    STRINGi9606.ENSP00000268261.

    Structurei

    Secondary structure

    1
    246
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi6 – 149Combined sources
    Turni15 – 173Combined sources
    Helixi26 – 3510Combined sources
    Turni36 – 383Combined sources
    Beta strandi39 – 446Combined sources
    Helixi49 – 568Combined sources
    Helixi60 – 634Combined sources
    Beta strandi65 – 695Combined sources
    Helixi70 – 723Combined sources
    Beta strandi74 – 774Combined sources
    Beta strandi80 – 845Combined sources
    Helixi87 – 915Combined sources
    Helixi93 – 10917Combined sources
    Beta strandi119 – 1235Combined sources
    Beta strandi126 – 1294Combined sources
    Helixi138 – 15114Combined sources
    Helixi153 – 16412Combined sources
    Turni165 – 1673Combined sources
    Beta strandi170 – 1756Combined sources
    Turni176 – 1783Combined sources
    Beta strandi179 – 1846Combined sources
    Helixi189 – 1957Combined sources
    Turni196 – 1983Combined sources
    Beta strandi202 – 2087Combined sources
    Helixi219 – 2224Combined sources
    Beta strandi226 – 2305Combined sources
    Helixi234 – 24411Combined sources

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2AMYX-ray2.09A2-246[»]
    2Q4RX-ray2.09A2-246[»]
    ProteinModelPortaliO15305.
    SMRiO15305. Positions 4-246.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO15305.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the eukaryotic PMM family.Curated

    Phylogenomic databases

    eggNOGiCOG0561.
    GeneTreeiENSGT00390000002918.
    HOGENOMiHOG000181843.
    HOVERGENiHBG009971.
    InParanoidiO15305.
    KOiK17497.
    OMAiQEERLEF.
    PhylomeDBiO15305.
    TreeFamiTF300874.

    Family and domain databases

    Gene3Di3.40.50.1000. 2 hits.
    InterProiIPR023214. HAD-like_dom.
    IPR006379. HAD-SF_hydro_IIB.
    IPR005002. PMM.
    [Graphical view]
    PANTHERiPTHR10466. PTHR10466. 1 hit.
    PfamiPF03332. PMM. 1 hit.
    [Graphical view]
    SUPFAMiSSF56784. SSF56784. 1 hit.
    TIGRFAMsiTIGR01484. HAD-SF-IIB. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

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

    Isoform 1 (identifier: O15305-1) [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
    MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE
    60 70 80 90 100
    KVQEQLGNDV VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI
    110 120 130 140 150
    NYCLSYIAKI KLPKKRGTFI EFRNGMLNVS PIGRSCSQEE RIEFYELDKK
    160 170 180 190 200
    ENIRQKFVAD LRKEFAGKGL TFSIGGQISF DVFPDGWDKR YCLRHVENDG
    210 220 230 240
    YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI CELLFS
    Length:246
    Mass (Da):28,082
    Last modified:January 1, 1998 - v1
    Checksum:i29F1D5B9539B6221
    GO
    Isoform 2 (identifier: O15305-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         117-119: GTF → KKI
         120-246: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:119
    Mass (Da):13,428
    Checksum:iC9EF8183BC7078D8
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91C → Y in CDG1A. 3 Publications
    VAR_022469
    Natural varianti11 – 111F → C in CDG1A. 2 Publications
    VAR_022470
    Natural varianti15 – 151G → E in CDG1A. 1 Publication
    VAR_022471
    Natural varianti20 – 201P → S in CDG1A; reduction of activity. 1 Publication
    VAR_022472
    Natural varianti32 – 321L → R in CDG1A. 2 Publications
    VAR_022473
    Natural varianti37 – 371Q → H in CDG1A; partial loss of activity. 1 Publication
    VAR_022474
    Natural varianti37 – 371Q → L.
    Corresponds to variant rs2304472 [ dbSNP | Ensembl ].
    VAR_022133
    Natural varianti42 – 421G → R.2 Publications
    VAR_022475
    Natural varianti44 – 441V → A in CDG1A. 2 Publications
    VAR_006093
    Natural varianti44 – 441V → L in CDG1A. 1 Publication
    VAR_022563
    Natural varianti64 – 641Y → C in CDG1A. 1 Publication
    VAR_022476
    Natural varianti65 – 651D → Y in CDG1A. 2 Publications
    VAR_006094
    Natural varianti67 – 671V → M in CDG1A. 2 Publications
    VAR_022477
    Natural varianti69 – 691P → S in CDG1A. 2 Publications
    VAR_022478
    Natural varianti76 – 761Y → C in CDG1A. 1 Publication
    VAR_022479
    Natural varianti93 – 931E → A in CDG1A. 1 Publication
    VAR_022480
    Natural varianti101 – 1011N → K in CDG1A. 1 Publication
    VAR_006095
    Natural varianti103 – 1031C → F in CDG1A. 2 Publications
    VAR_022481
    Natural varianti104 – 1041L → V in CDG1A. 1 Publication
    VAR_012344
    Natural varianti106 – 1061Y → C in CDG1A. 1 Publication
    VAR_006096
    Natural varianti108 – 1081A → V in CDG1A. 2 Publications
    VAR_006097
    Natural varianti113 – 1131P → L in CDG1A. 3 Publications
    VAR_006098
    Natural varianti117 – 1171G → R in CDG1A; loss of activity. 4 Publications
    VAR_006099
    Natural varianti119 – 1191F → L in CDG1A; partial loss of activity. 5 Publications
    VAR_006100
    Natural varianti120 – 1201I → T in CDG1A. 1 Publication
    VAR_022482
    Natural varianti123 – 1231R → Q in CDG1A. 3 Publications
    VAR_006101
    Natural varianti129 – 1291V → M in CDG1A. 3 Publications
    Corresponds to variant rs28938475 [ dbSNP | Ensembl ].
    VAR_006102
    Natural varianti131 – 1311P → A in CDG1A. 2 Publications
    VAR_006103
    Natural varianti132 – 1321I → F in CDG1A; slightly reduced activity. 1 Publication
    VAR_022483
    Natural varianti132 – 1321I → N in CDG1A. 2 Publications
    VAR_022484
    Natural varianti132 – 1321I → T in CDG1A. 2 Publications
    VAR_006104
    Natural varianti139 – 1391E → K in CDG1A; this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped; slightly reduced activity. 3 Publications
    VAR_009232
    Natural varianti141 – 1411R → C in CDG1A; loss of activity. 1 Publication
    VAR_022485
    Natural varianti141 – 1411R → H in CDG1A; frequent mutation; loss of activity; observed in heterozygous patients; homozygosis of this mutation is incompatible with life. 6 Publications
    Corresponds to variant rs28936415 [ dbSNP | Ensembl ].
    VAR_006105
    Natural varianti144 – 1441F → L in CDG1A. 1 Publication
    Corresponds to variant rs150719105 [ dbSNP | Ensembl ].
    VAR_022486
    Natural varianti148 – 1481D → N in CDG1A. 2 Publications
    VAR_022487
    Natural varianti151 – 1511E → G in CDG1A. 1 Publication
    VAR_022488
    Natural varianti153 – 1531I → T in CDG1A. 2 Publications
    VAR_022489
    Natural varianti157 – 1571F → S in CDG1A. 2 Publications
    Corresponds to variant rs190521996 [ dbSNP | Ensembl ].
    VAR_022490
    Natural varianti162 – 1621R → W in CDG1A. 2 Publications
    VAR_006106
    Natural varianti172 – 1721F → V in CDG1A. 2 Publications
    VAR_022491
    Natural varianti175 – 1751G → R in CDG1A. 2 Publications
    VAR_006107
    Natural varianti176 – 1761G → V in CDG1A; loss of activity. 1 Publication
    VAR_022492
    Natural varianti177 – 1771Q → H in CDG1A; partial loss of activity. 1 Publication
    VAR_022493
    Natural varianti183 – 1831F → S in CDG1A. 3 Publications
    VAR_022494
    Natural varianti185 – 1851D → G in CDG1A. 2 Publications
    VAR_022495
    Natural varianti188 – 1881D → G in CDG1A; severe. 1 Publication
    VAR_006108
    Natural varianti192 – 1921C → G in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 3 Publications
    VAR_022496
    Natural varianti195 – 1951H → R in CDG1A. 1 Publication
    VAR_022497
    Natural varianti197 – 1971E → A in CDG1A. 2 Publications
    Corresponds to variant rs34258285 [ dbSNP | Ensembl ].
    VAR_022498
    Natural varianti206 – 2061F → S in CDG1A. 1 Publication
    VAR_022499
    Natural varianti208 – 2081G → A in CDG1A. 2 Publications
    VAR_006109
    Natural varianti212 – 2121M → V.
    Corresponds to variant rs3743808 [ dbSNP | Ensembl ].
    VAR_022134
    Natural varianti214 – 2141G → S in CDG1A. 2 Publications
    VAR_022500
    Natural varianti216 – 2161N → I in CDG1A. 1 Publication
    Corresponds to variant rs78290141 [ dbSNP | Ensembl ].
    VAR_006110
    Natural varianti216 – 2161N → S in CDG1A. 2 Publications
    Corresponds to variant rs78290141 [ dbSNP | Ensembl ].
    VAR_022501
    Natural varianti217 – 2171D → E in CDG1A. 2 Publications
    VAR_022502
    Natural varianti218 – 2181H → L in CDG1A. 1 Publication
    VAR_022503
    Natural varianti223 – 2231D → E in CDG1A; normal activity but lower affinity for alpha-D-mannose 1-phosphate. 4 Publications
    VAR_006111
    Natural varianti223 – 2231D → N in CDG1A. 1 Publication
    VAR_022504
    Natural varianti226 – 2261T → S in CDG1A. 2 Publications
    VAR_022505
    Natural varianti228 – 2281G → C in CDG1A. 1 Publication
    VAR_022506
    Natural varianti228 – 2281G → R in CDG1A. 2 Publications
    VAR_022507
    Natural varianti229 – 2291Y → S in CDG1A. 2 Publications
    VAR_006112
    Natural varianti231 – 2311V → M in CDG1A. 5 Publications
    VAR_006113
    Natural varianti233 – 2331A → T in CDG1A; unknown pathological significance. 1 Publication
    VAR_006114
    Natural varianti237 – 2371T → M in CDG1A. 3 Publications
    Corresponds to variant rs80338708 [ dbSNP | Ensembl ].
    VAR_006115
    Natural varianti237 – 2371T → R in CDG1A; loss of activity. 4 Publications
    Corresponds to variant rs80338708 [ dbSNP | Ensembl ].
    VAR_022508
    Natural varianti238 – 2381R → G in CDG1A. 1 Publication
    VAR_022509
    Natural varianti238 – 2381R → P in CDG1A. 1 Publication
    VAR_006116
    Natural varianti241 – 2411C → S in CDG1A. 2 Publications
    VAR_022510

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei117 – 1193GTF → KKI in isoform 2. 1 PublicationVSP_056228
    Alternative sequencei120 – 246127Missing in isoform 2. 1 PublicationVSP_056229Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U85773 mRNA. Translation: AAC51368.1.
    AF157796
    , AF157790, AF157791, AF157792, AF157793, AF157794, AF157795 Genomic DNA. Translation: AAD45895.1.
    AK291537 mRNA. Translation: BAF84226.1.
    AK300785 mRNA. Translation: BAH13346.1.
    AC012173 Genomic DNA. No translation available.
    CH471112 Genomic DNA. Translation: EAW85200.1.
    CH471112 Genomic DNA. Translation: EAW85201.1.
    CH471112 Genomic DNA. Translation: EAW85202.1.
    CH471112 Genomic DNA. Translation: EAW85203.1.
    BC008310 mRNA. Translation: AAH08310.1.
    CCDSiCCDS10536.1. [O15305-1]
    RefSeqiNP_000294.1. NM_000303.2. [O15305-1]
    UniGeneiHs.625732.

    Genome annotation databases

    EnsembliENST00000268261; ENSP00000268261; ENSG00000140650. [O15305-1]
    ENST00000566604; ENSP00000456774; ENSG00000140650. [O15305-2]
    GeneIDi5373.
    KEGGihsa:5373.
    UCSCiuc002czf.4. human. [O15305-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U85773 mRNA. Translation: AAC51368.1.
    AF157796
    , AF157790, AF157791, AF157792, AF157793, AF157794, AF157795 Genomic DNA. Translation: AAD45895.1.
    AK291537 mRNA. Translation: BAF84226.1.
    AK300785 mRNA. Translation: BAH13346.1.
    AC012173 Genomic DNA. No translation available.
    CH471112 Genomic DNA. Translation: EAW85200.1.
    CH471112 Genomic DNA. Translation: EAW85201.1.
    CH471112 Genomic DNA. Translation: EAW85202.1.
    CH471112 Genomic DNA. Translation: EAW85203.1.
    BC008310 mRNA. Translation: AAH08310.1.
    CCDSiCCDS10536.1. [O15305-1]
    RefSeqiNP_000294.1. NM_000303.2. [O15305-1]
    UniGeneiHs.625732.

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2AMYX-ray2.09A2-246[»]
    2Q4RX-ray2.09A2-246[»]
    ProteinModelPortaliO15305.
    SMRiO15305. Positions 4-246.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi111386. 5 interactions.
    IntActiO15305. 1 interaction.
    STRINGi9606.ENSP00000268261.

    Chemistry

    BindingDBiO15305.
    ChEMBLiCHEMBL1741162.

    PTM databases

    PhosphoSiteiO15305.

    Polymorphism and mutation databases

    BioMutaiPMM2.

    Proteomic databases

    MaxQBiO15305.
    PaxDbiO15305.
    PeptideAtlasiO15305.
    PRIDEiO15305.

    Protocols and materials databases

    DNASUi5373.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000268261; ENSP00000268261; ENSG00000140650. [O15305-1]
    ENST00000566604; ENSP00000456774; ENSG00000140650. [O15305-2]
    GeneIDi5373.
    KEGGihsa:5373.
    UCSCiuc002czf.4. human. [O15305-1]

    Organism-specific databases

    CTDi5373.
    GeneCardsiGC16P008885.
    GeneReviewsiPMM2.
    HGNCiHGNC:9115. PMM2.
    HPAiHPA040852.
    MIMi212065. phenotype.
    601785. gene.
    neXtProtiNX_O15305.
    Orphaneti79318. PMM2-CDG.
    PharmGKBiPA33441.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiCOG0561.
    GeneTreeiENSGT00390000002918.
    HOGENOMiHOG000181843.
    HOVERGENiHBG009971.
    InParanoidiO15305.
    KOiK17497.
    OMAiQEERLEF.
    PhylomeDBiO15305.
    TreeFamiTF300874.

    Enzyme and pathway databases

    UniPathwayiUPA00126; UER00424.
    BRENDAi5.4.2.8. 2681.
    ReactomeiREACT_22423. Synthesis of GDP-mannose.
    SABIO-RKO15305.

    Miscellaneous databases

    ChiTaRSiPMM2. human.
    EvolutionaryTraceiO15305.
    GeneWikiiPMM2.
    GenomeRNAii5373.
    NextBioi20846.
    PROiO15305.
    SOURCEiSearch...

    Gene expression databases

    BgeeiO15305.
    CleanExiHS_PMM2.
    ExpressionAtlasiO15305. baseline.
    GenevisibleiO15305. HS.

    Family and domain databases

    Gene3Di3.40.50.1000. 2 hits.
    InterProiIPR023214. HAD-like_dom.
    IPR006379. HAD-SF_hydro_IIB.
    IPR005002. PMM.
    [Graphical view]
    PANTHERiPTHR10466. PTHR10466. 1 hit.
    PfamiPF03332. PMM. 1 hit.
    [Graphical view]
    SUPFAMiSSF56784. SSF56784. 1 hit.
    TIGRFAMsiTIGR01484. HAD-SF-IIB. 1 hit.
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    1. "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)."
      Matthijs G., Schollen E., Pardon E., Veiga-Da-Cunha M., Jaeken J., Cassiman J.-J., van Schaftingen E.
      Nat. Genet. 16:88-92(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS CDG1A.
    2. "Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene."
      Schollen E., Pardon E., Heykants L., Renard J., Doggett N.A., Callen D.F., Cassiman J.J., Matthijs G.
      Hum. Mol. Genet. 7:157-164(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Placenta.
    4. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X.,