This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromos... See more...

Aliases for BPNT2 Gene

Aliases for BPNT2 Gene

  • 3'(2'), 5'-Bisphosphate Nucleotidase 2 2 3 4 5
  • Golgi-Resident Adenosine 3',5'-Bisphosphate 3'-Phosphatase 2 3 4
  • GPAPP 2 3 4
  • IMPA3 2 3 4
  • Inositol Monophosphatase Domain-Containing Protein 1 3 4
  • Inositol Monophosphatase Domain Containing 1 2 3
  • Phosphoadenosine Phosphate 3'-Nucleotidase 3 4
  • Golgi-Resident Nucleotide Phosphatase 2 3
  • Myo-Inositol Monophosphatase A3 3 4
  • Golgi-Resident PAP Phosphatase 3 4
  • IMPAD1 3 4
  • Golgi 3-Prime Phosphoadenosine 5-Prime Phosphate 3-Prime Phosphatase 3
  • Inositol-1(Or 4)-Monophosphatase 3 3
  • EC 3.1.3.25 50
  • EC 3.1.3.7 4
  • IMPase 3 3
  • FLJ20421 2
  • EC 3.1.3 50
  • IMP 3 3
  • IMP-3 3
  • BPNT2 5

External Ids for BPNT2 Gene

Previous HGNC Symbols for BPNT2 Gene

  • IMPAD1

Summaries for BPNT2 Gene

Entrez Gene Summary for BPNT2 Gene

  • This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

GeneCards Summary for BPNT2 Gene

BPNT2 (3'(2'), 5'-Bisphosphate Nucleotidase 2) is a Protein Coding gene. Diseases associated with BPNT2 include Chondrodysplasia With Joint Dislocations, Gpapp Type and Congenital Joint Dislocations. Among its related pathways are superpathway of inositol phosphate compounds and Sulfur metabolism. An important paralog of this gene is INPP1.

UniProtKB/Swiss-Prot Summary for BPNT2 Gene

  • Exhibits 3'-nucleotidase activity toward adenosine 3',5'-bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. Has no activity toward 3'-phosphoadenosine 5'-phosphosulfate (PAPS) or inositol phosphate (IP) substrates including I(1)P, I(1,4)P2, I(1,3,4)P3, I(1,4,5)P3 and I(1,3,4,5)P4.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BPNT2 Gene

Genomics for BPNT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BPNT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J056991 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.9 873 4 IKZF1 MYC ZNF600 POLR2A YY1 MXD4 KLF11 SMAD5 SIN3A CHD2 BPNT2 HSALNG0065506-001 HSALNG0065506-002 piR-56037-082 PENK
GH08J056958 Enhancer 0.6 Ensembl ENCODE 11.8 +34.5 34473 2 ZNF217 ELF1 SMARCE1 DPF2 CREB1 FOS BPNT2 RNU6-13P HSALNG0065504 piR-56037-082 PENK
GH08J057108 Enhancer 0.7 Ensembl 11.3 -115.0 -115027 1 CEBPA ATF3 YY1 CEBPB EP300 RXRA JUND RAD21 HNF4A ELF3 BPNT2 HSALNG0065512 HSALNG0065509 FAM110B
GH08J056970 Enhancer 0.3 Ensembl 11.7 +23.6 23573 0.2 CEBPB CEBPG BPNT2 HSALNG0065504 piR-56037-082 PENK
GH08J057107 Enhancer 0.3 Ensembl 11.3 -114.0 -114027 0.2 CTCF BPNT2 HSALNG0065512 HSALNG0065509 FAM110B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BPNT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BPNT2

Genomic Locations for BPNT2 Gene

Latest Assembly
chr8:56,957,931-56,993,874
(GRCh38/hg38)
Size:
35,944 bases
Orientation:
Minus strand

Previous Assembly
chr8:57,870,490-57,906,426
(GRCh37/hg19 by Entrez Gene)
Size:
35,937 bases
Orientation:
Minus strand

chr8:57,870,492-57,906,403
(GRCh37/hg19 by Ensembl)
Size:
35,912 bases
Orientation:
Minus strand

Genomic View for BPNT2 Gene

Genes around BPNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPNT2 Gene

Proteins for BPNT2 Gene

  • Protein details for BPNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX62-IMPA3_HUMAN
    Recommended name:
    Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase
    Protein Accession:
    Q9NX62
    Secondary Accessions:
    • Q6NVY7

    Protein attributes for BPNT2 Gene

    Size:
    359 amino acids
    Molecular mass:
    38681 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for BPNT2 Gene

Selected DME Specific Peptides for BPNT2 Gene

Q9NX62:
  • KMTSGDVLSN
  • GAGYKVL
  • YTAWAMVD
  • IKKWDICAG
  • YVTTMVCVAV
  • WIDPLDAT
  • SYNEKTP
  • GEEISYTGS
  • AGGAGYK
  • ALGGHMTTL

Post-translational modifications for BPNT2 Gene

  • Contains N-linked glycan resistant to endoglycosydase H.
  • Glycosylation at Thr98, Thr107, Ser108, and Asn259
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • IMPA3_HUMAN (1400)

Other Protein References for BPNT2 Gene

Domains & Families for BPNT2 Gene

Gene Families for BPNT2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BPNT2 Gene

Suggested Antigen Peptide Sequences for BPNT2 Gene

GenScript: Design optimal peptide antigens:
  • Myo-inositol monophosphatase A3 (IMPA3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NX62

UniProtKB/Swiss-Prot:

IMPA3_HUMAN :
  • Belongs to the inositol monophosphatase superfamily.
Family:
  • Belongs to the inositol monophosphatase superfamily.
genes like me logo Genes that share domains with BPNT2: view

Function for BPNT2 Gene

Molecular function for BPNT2 Gene

UniProtKB/Swiss-Prot Function:
Exhibits 3'-nucleotidase activity toward adenosine 3',5'-bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. Has no activity toward 3'-phosphoadenosine 5'-phosphosulfate (PAPS) or inositol phosphate (IP) substrates including I(1)P, I(1,4)P2, I(1,3,4)P3, I(1,4,5)P3 and I(1,3,4,5)P4.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine 3',5'-bisphosphate + H2O = AMP + phosphate; Xref=Rhea:RHEA:10040, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58343, ChEBI:CHEBI:456215; EC=3.1.3.7; Evidence={ECO:0000250|UniProtKB:Q80V26};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by lithium.

Enzyme Numbers (IUBMB) for BPNT2 Gene

Phenotypes From GWAS Catalog for BPNT2 Gene

Gene Ontology (GO) - Molecular Function for BPNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008254 3'-nucleotidase activity IBA 21873635
GO:0008441 3'(2'),5'-bisphosphate nucleotidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0097657 3',5'-nucleotide bisphosphate phosphatase activity ISS --
genes like me logo Genes that share ontologies with BPNT2: view
genes like me logo Genes that share phenotypes with BPNT2: view

Human Phenotype Ontology for BPNT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BPNT2 Gene

MGI Knock Outs for BPNT2:
  • Bpnt2 Bpnt2<tm1.2Aros>
  • Bpnt2 Bpnt2<tm1a(KOMP)Wtsi>
  • Bpnt2 Bpnt2<tm1.1Aros>

Animal Models for research

  • Taconic Biosciences Mouse Models for BPNT2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPNT2

No data available for Transcription Factor Targets and HOMER Transcription for BPNT2 Gene

Localization for BPNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPNT2 Gene

Golgi apparatus. Golgi apparatus, trans-Golgi network membrane. Single-pass type II membrane protein. Note=The catalytic core is predicted to reside within the Golgi lumen. {ECO:0000269 PubMed:18695242}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BPNT2 gene
Compartment Confidence
nucleus 4
cytosol 4
golgi apparatus 4
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BPNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IEA,IDA 18695242
GO:0005796 Golgi lumen TAS --
GO:0005829 cytosol IDA --
GO:0012505 endomembrane system IBA 21873635
genes like me logo Genes that share ontologies with BPNT2: view

Pathways & Interactions for BPNT2 Gene

genes like me logo Genes that share pathways with BPNT2: view

UniProtKB/Swiss-Prot Q9NX62-IMPA3_HUMAN

  • Pathway: Sulfur metabolism.

Gene Ontology (GO) - Biological Process for BPNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IBA 21873635
GO:0001958 endochondral ossification IEA --
GO:0002063 chondrocyte development IEA --
GO:0009791 post-embryonic development IEA --
GO:0030204 chondroitin sulfate metabolic process IEA --
genes like me logo Genes that share ontologies with BPNT2: view

No data available for SIGNOR curated interactions for BPNT2 Gene

Drugs & Compounds for BPNT2 Gene

(8) Drugs for BPNT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Inositol Approved, Investigational, Withdrawn Pharma 118
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
3'-phospho-5'-adenylyl sulfate Experimental Pharma 0

(2) Additional Compounds for BPNT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-myo-Inositol 4-phosphate
  • 1D-Myo-inositol 4-monophosphate
  • 1D-Myo-inositol 4-phosphate
  • Inositol 4-phosphate
  • 1D-Myo-inositol 4-monophosphoric acid
  • 1D-Myo-inositol 4-phosphoric acid
69256-52-6
Inositol phosphate
  • 1D-Myo-inositol 1-monophosphate
  • D-Myo-inositol 1-phosphate
  • I1P
  • Inositol 1-phosphate
  • Ins(1)p
15421-51-9
genes like me logo Genes that share compounds with BPNT2: view

Transcripts for BPNT2 Gene

mRNA/cDNA for BPNT2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPNT2

Alternative Splicing Database (ASD) splice patterns (SP) for BPNT2 Gene

No ASD Table

Relevant External Links for BPNT2 Gene

GeneLoc Exon Structure for
BPNT2

Expression for BPNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BPNT2

SOURCE GeneReport for Unigene cluster for BPNT2 Gene:

Hs.438689

Evidence on tissue expression from TISSUES for BPNT2 Gene

  • Skin(4.3)
  • Nervous system(4.1)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BPNT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • lymph vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with BPNT2: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BPNT2 Gene

Orthologs for BPNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BPNT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IMPAD1 29 30
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IMPAD1 29 30
  • 92.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IMPAD1 29 30
  • 89.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IMPAD1 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Impad1 29 30
  • 88.95 (n)
OneToOne
Bpnt2 16
Rat
(Rattus norvegicus)
Mammalia Impad1 29
  • 88.58 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia IMPAD1 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IMPAD1 29 30
  • 78.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IMPAD1 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia impad1 29
  • 70.14 (n)
Str.10976 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.3318 29
Zebrafish
(Danio rerio)
Actinopterygii impad1 29 30
  • 65.07 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001396 29
  • 51.29 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG15743 29 30
  • 50.36 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y6B3B.5 29
  • 48.91 (n)
Y6B3B.5 30
  • 33 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2702 30
  • 49 (a)
OneToOne
Species where no ortholog for BPNT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BPNT2 Gene

ENSEMBL:
Gene Tree for BPNT2 (if available)
TreeFam:
Gene Tree for BPNT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BPNT2: view image
Alliance of Genome Resources:
Additional Orthologs for BPNT2

Paralogs for BPNT2 Gene

Paralogs for BPNT2 Gene

Pseudogenes.org Pseudogenes for BPNT2 Gene

genes like me logo Genes that share paralogs with BPNT2: view

Variants for BPNT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BPNT2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1001362 Uncertain Significance: not provided 56,993,468(-) C/T
NM_017813.5(BPNT2):c.118G>A (p.Gly40Ser)
MISSENSE
1011336 Uncertain Significance: not provided 56,966,271(-) C/T
NM_017813.5(BPNT2):c.728G>A (p.Arg243His)
MISSENSE
1019860 Uncertain Significance: not provided 56,980,092(-) G/C
NM_017813.5(BPNT2):c.493C>G (p.Pro165Ala)
MISSENSE
1033448 Pathogenic: Chondrodysplasia with joint dislocations, GPAPP type 56,993,207(-) T/TG
NM_017813.5(BPNT2):c.378dup (p.Ser127fs)
FRAMESHIFT
908364 Uncertain Significance: Chondrodysplasia with joint dislocations, GPAPP type 56,958,822(-) G/A
NM_017813.5(BPNT2):c.*4971C>T
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BPNT2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BPNT2 Gene

Variant ID Type Subtype PubMed ID
esv3382112 CNV insertion 20981092
esv3617308 CNV loss 21293372
esv3891400 CNV gain 25118596
nsv1027125 CNV gain 25217958
nsv1029443 CNV loss 25217958
nsv1075553 CNV deletion 25765185
nsv1122195 CNV deletion 24896259

Variation tolerance for BPNT2 Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPNT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPNT2
Leiden Open Variation Database (LOVD)
BPNT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPNT2 Gene

Disorders for BPNT2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for BPNT2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search BPNT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IMPA3_HUMAN
  • Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078]: A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. {ECO:0000269 PubMed:21549340}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for BPNT2

genes like me logo Genes that share disorders with BPNT2: view

No data available for Genatlas for BPNT2 Gene

Publications for BPNT2 Gene

  1. Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (PMID: 21549340) Vissers LE … Superti-Furga A (American journal of human genetics 2011) 2 3 4 72
  2. A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation. (PMID: 18695242) Frederick JP … York JD (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3 4
  3. Detecting O-GlcNAc using in vitro sulfation. (PMID: 24799377) Wu ZL … Zaia J (Glycobiology 2014) 2 3
  4. Golgi-resident PAP-specific 3'-phosphatase-coupled sulfotransferase assays. (PMID: 22289690) Prather B … Wu ZL (Analytical biochemistry 2012) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for BPNT2 Gene

Sources for BPNT2 Gene