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Aliases for PAFAH1B2 Gene

Aliases for PAFAH1B2 Gene

  • Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 2 2 3 5
  • Platelet-Activating Factor Acetylhydrolase 1b, Catalytic Subunit 2 (30kDa) 2 3
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Subunit 2 (30kDa) 2 3
  • PAF Acetylhydrolase 30 KDa Subunit 3 4
  • PAF-AH1b Alpha 2 Subunit 2 3
  • PAF-AH 30 KDa Subunit 3 4
  • PAF-AH Subunit Beta 3 4
  • PAFAH Subunit Beta 3 4
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Beta Subunit 30kDa 2
  • Intracellular Platelet-Activating Factor Acetylhydrolase Alpha 2 Subunit 3
  • Platelet-Activating Factor Acetylhydrolase IB Subunit Beta 3
  • Epididymis Secretory Protein Li 303 3
  • EC 3.1.1.47 4
  • HEL-S-303 3
  • PAFAHB 4

External Ids for PAFAH1B2 Gene

Previous GeneCards Identifiers for PAFAH1B2 Gene

  • GC11P119367
  • GC11P118526
  • GC11P117048
  • GC11P116552
  • GC11P116521
  • GC11P112947
  • GC11P117014

Summaries for PAFAH1B2 Gene

Entrez Gene Summary for PAFAH1B2 Gene

  • Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]

GeneCards Summary for PAFAH1B2 Gene

PAFAH1B2 (Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 2) is a Protein Coding gene. Among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity. An important paralog of this gene is PAFAH1B3.

UniProtKB/Swiss-Prot for PAFAH1B2 Gene

  • Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit.

Gene Wiki entry for PAFAH1B2 Gene

Additional gene information for PAFAH1B2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAFAH1B2 Gene

Genomics for PAFAH1B2 Gene

GeneHancer (GH) Regulatory Elements for PAFAH1B2 Gene

Promoters and enhancers for PAFAH1B2 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
GH11J117143 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 657.7 +1.0 993 3.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B PAFAH1B2 ENSG00000254678 LOC653303 BUD13 SIK3 ENSG00000224077 CEP164 PCSK7 RNF214 ZPR1
GH11J117177 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.5 +37.1 37093 7.4 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 SIDT2 LOC653303 PAFAH1B2 APOA1 ENSG00000254678 APOA5 ZPR1 PIR62498
GH11J117171 Enhancer 1.3 Ensembl ENCODE dbSUPER 16.1 +28.2 28227 2.6 PKNOX1 ATF1 TCF12 ZNF121 POLR2B GATA2 E2F8 ATF7 PAF1 NCOA1 LOC653303 PAFAH1B2 APOA1 ENSG00000254678 BUD13 RNF214 PCSK7 ZPR1 APOA5 SIDT2
GH11J116807 Enhancer 1.4 FANTOM5 Ensembl ENCODE 9.9 -335.6 -335625 1.9 PKNOX1 FOXA2 MLX DMAP1 ETS1 YY1 NFKBIZ RXRA SP5 MIER2 APOA1 LOC653303 ENSG00000226645 BUD13 SIK3 ENSG00000224077 ENSG00000254678 PAFAH1B2 PCSK7 RNF214
GH11J117185 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.1 +43.7 43674 5.6 KLF1 EBF1 ZNF121 EED ZNF143 ATF7 IKZF2 RUNX3 SMARCA5 ZNF687 LOC653303 APOA1 RNF214 PCSK7 ENSG00000254678 PAFAH1B2 ENSG00000226645 BUD13 SIDT2 PIR62498
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAFAH1B2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAFAH1B2 gene promoter:
  • Gfi-1
  • AML1a
  • STAT3
  • CREB
  • Spz1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for PAFAH1B2 Gene

Genomic Locations for PAFAH1B2 Gene
chr11:117,144,267-117,178,173
(GRCh38/hg38)
Size:
33,907 bases
Orientation:
Plus strand
chr11:117,014,983-117,047,610
(GRCh37/hg19)
Size:
32,628 bases
Orientation:
Plus strand

Genomic View for PAFAH1B2 Gene

Genes around PAFAH1B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAFAH1B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAFAH1B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAFAH1B2 Gene

Proteins for PAFAH1B2 Gene

  • Protein details for PAFAH1B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68402-PA1B2_HUMAN
    Recommended name:
    Platelet-activating factor acetylhydrolase IB subunit beta
    Protein Accession:
    P68402
    Secondary Accessions:
    • A8DPS5
    • A8DPS6
    • A8DPS7
    • E9PEJ5
    • E9PLP3
    • O00687
    • Q29459
    • Q6IBR6

    Protein attributes for PAFAH1B2 Gene

    Size:
    229 amino acids
    Molecular mass:
    25569 Da
    Quaternary structure:
    • Cytosolic PAF-AH IB is formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29 kDa (gamma). The catalytic activity of the enzyme resides in the beta and gamma subunits, whereas the alpha subunit has regulatory activity. Trimer formation is not essential for the catalytic activity.

    Three dimensional structures from OCA and Proteopedia for PAFAH1B2 Gene

    Alternative splice isoforms for PAFAH1B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAFAH1B2 Gene

Post-translational modifications for PAFAH1B2 Gene

  • Ubiquitination at Lys133
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PAFAH1B2 Gene

Domains & Families for PAFAH1B2 Gene

Gene Families for PAFAH1B2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PAFAH1B2 Gene

Graphical View of Domain Structure for InterPro Entry

P68402

UniProtKB/Swiss-Prot:

PA1B2_HUMAN :
  • Belongs to the GDSL lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily.
Family:
  • Belongs to the GDSL lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily.
genes like me logo Genes that share domains with PAFAH1B2: view

Function for PAFAH1B2 Gene

Molecular function for PAFAH1B2 Gene

UniProtKB/Swiss-Prot Function:
Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit.
UniProtKB/Swiss-Prot CatalyticActivity:
1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine + acetate.
GENATLAS Biochemistry:
platelet activating factor acetylhydrolase,isoform 1b,beta subunit ,30kDa,maybe a contributor to susceptibility to a progression of non familal dilated cardiomyopathy

Enzyme Numbers (IUBMB) for PAFAH1B2 Gene

Phenotypes From GWAS Catalog for PAFAH1B2 Gene

Gene Ontology (GO) - Molecular Function for PAFAH1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA --
GO:0004623 phospholipase A2 activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0016787 hydrolase activity IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with PAFAH1B2: view
genes like me logo Genes that share phenotypes with PAFAH1B2: view

Animal Models for PAFAH1B2 Gene

MGI Knock Outs for PAFAH1B2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PAFAH1B2

CRISPR Products

miRNA for PAFAH1B2 Gene

miRTarBase miRNAs that target PAFAH1B2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAFAH1B2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PAFAH1B2 Gene

Localization for PAFAH1B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAFAH1B2 Gene

Cytoplasm.

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 PAFAH1B2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAFAH1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005576 extracellular region TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm TAS 16130169
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PAFAH1B2: view

Pathways & Interactions for PAFAH1B2 Gene

genes like me logo Genes that share pathways with PAFAH1B2: view

SIGNOR curated interactions for PAFAH1B2 Gene

Activates:

Gene Ontology (GO) - Biological Process for PAFAH1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 9144386
GO:0007283 spermatogenesis IEA --
GO:0007420 brain development IBA --
GO:0016042 lipid catabolic process IEA --
GO:0016239 positive regulation of macroautophagy IMP 22354037
genes like me logo Genes that share ontologies with PAFAH1B2: view

Drugs & Compounds for PAFAH1B2 Gene

(3) Drugs for PAFAH1B2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 116
Gossypol Investigational Pharma PAF inhibitor;anti-fertility and anti-cancer 24

(36) Additional Compounds for PAFAH1B2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoPC(0:0/18:0)
  • (2R)-3-Hydroxy-2-(stearoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate
  • 2-Octadecanoyl-sn-glycero-3-phosphocholine
  • 2-Stearoyllysophosphatidylcholine
  • LPC (18:0)
  • PC(0:0/18:0)
4421-58-3
LysoPC(10:0)
  • 1-Capryl-2-lysophosphatidylcholine
  • 1-Capryl-L-alpha-phosphorylcholine
  • 1-Decanoyl-sn-glycero-3-phosphocholine
  • 1-Decanoyl-sn-glycerol-3-phosphorylcholine
  • 1-Decanoyllysolecithin
22248-63-1
LysoPC(14:0/0:0)
  • 1-C14:0-Lysophosphatidylcholine betaine
  • 1-Myristoyl-glycero-3-phosphocholine
  • 1-Myristoyl-sn-glycero-3-phosphocholine betaine
  • 1-Tetradecanoyl-sn-glycero-3-phosphocholine
  • 1-Tetradecanoyl-sn-glycero-3-phosphocholine betaine
20559-16-4
LysoPC(14:1(9Z))
  • 1-(9Z-Tetradecenoyl)-sn-glycero-3-phosphocholine
  • 1-Myristoleoyl-glycero-3-phosphocholine
  • LPC 14:1(9Z)/0:0
  • LPC(14:1(9Z)/0:0)
  • LysoPC 14:1(9Z)/0:0
LysoPC(15:0)
  • 1-Pentadecanoyl-glycero-3-phosphocholine
  • LPC(15:0)
  • LPC(15:0/0:0)
  • LyPC(15:0)
  • LyPC(15:0/0:0)
genes like me logo Genes that share compounds with PAFAH1B2: view

Transcripts for PAFAH1B2 Gene

Unigene Clusters for PAFAH1B2 Gene

Platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAFAH1B2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH1B2 Gene

No ASD Table

Relevant External Links for PAFAH1B2 Gene

GeneLoc Exon Structure for
PAFAH1B2
ECgene alternative splicing isoforms for
PAFAH1B2

Expression for PAFAH1B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAFAH1B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAFAH1B2 Gene



Protein tissue co-expression partners for PAFAH1B2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PAFAH1B2 Gene:

PAFAH1B2

SOURCE GeneReport for Unigene cluster for PAFAH1B2 Gene:

Hs.728488

mRNA Expression by UniProt/SwissProt for PAFAH1B2 Gene:

P68402-PA1B2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PAFAH1B2 Gene

  • Nervous system(4.8)
  • Lung(4.4)
  • Spleen(2)
genes like me logo Genes that share expression patterns with PAFAH1B2: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAFAH1B2 Gene

Orthologs for PAFAH1B2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAFAH1B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAFAH1B2 34 33
  • 100 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAFAH1B2 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAFAH1B2 34 33
  • 94.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PAFAH1B2 34 33
  • 93.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pafah1b2 33
  • 91.41 (n)
mouse
(Mus musculus)
Mammalia Pafah1b2 16 34 33
  • 91.27 (n)
oppossum
(Monodelphis domestica)
Mammalia PAFAH1B2 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAFAH1B2 34 33
  • 82.24 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pafah1b2 33
  • 74.24 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69176 33
zebrafish
(Danio rerio)
Actinopterygii pafah1b2 34 33
  • 65.48 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000939 33
  • 52.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Paf-AHalpha 34 35 33
  • 51.58 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for PAFAH1B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • lizard (Anolis carolinensis)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for PAFAH1B2 Gene

ENSEMBL:
Gene Tree for PAFAH1B2 (if available)
TreeFam:
Gene Tree for PAFAH1B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAFAH1B2: view image

Paralogs for PAFAH1B2 Gene

Paralogs for PAFAH1B2 Gene

(1) SIMAP similar genes for PAFAH1B2 Gene using alignment to 3 proteins:

  • PA1B2_HUMAN
  • J3KNE3_HUMAN
  • Q9BUZ1_HUMAN

Pseudogenes.org Pseudogenes for PAFAH1B2 Gene

genes like me logo Genes that share paralogs with PAFAH1B2: view

Variants for PAFAH1B2 Gene

Sequence variations from dbSNP and Humsavar for PAFAH1B2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000016010 -- 117,143,442(+) A/G upstream_transcript_variant
rs1000109490 -- 117,153,633(+) T/C intron_variant
rs1000146117 -- 117,172,899(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000165317 -- 117,150,615(+) A/G intron_variant
rs1000308337 -- 117,178,112(+) A/G genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PAFAH1B2 Gene

Variant ID Type Subtype PubMed ID
dgv730n106 OTHER inversion 24896259
esv2662387 CNV deletion 23128226
esv3627846 CNV loss 21293372
nsv1078301 OTHER inversion 25765185
nsv39763 CNV insertion 16902084
nsv7223 OTHER inversion 18451855

Variation tolerance for PAFAH1B2 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAFAH1B2 Gene

Human Gene Mutation Database (HGMD)
PAFAH1B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAFAH1B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAFAH1B2 Gene

Disorders for PAFAH1B2 Gene

Additional Disease Information for PAFAH1B2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PAFAH1B2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PAFAH1B2 Gene

Publications for PAFAH1B2 Gene

  1. Novel isoforms of intracellular platelet activating factor acetylhydrolase (PAFAH1b2) in human testis; encoded by alternatively spliced mRNAs. (PMID: 18155631) Scott BT … Bovill EG (Prostaglandins & other lipid mediators 2008) 3 4 22 58
  2. Exclusion of the alpha2 subunit of platelet-activating factor acetylhydrolase 1b (PAFAH1B2) as a prothrombotic gene in a protein C-deficient kindred and population-based case-control sample. (PMID: 17849047) Hasstedt SJ … Bovill EG (Thrombosis and haemostasis 2007) 3 22 44 58
  3. The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively. (PMID: 9693049) Moro F … Carrozzo R (Genomics 1998) 2 3 22 58
  4. Differential tissue distribution of the beta- and gamma-subunits of human cytosolic platelet-activating factor acetylhydrolase (isoform I). (PMID: 9144386) Adachi H … Inoue K (Biochemical and biophysical research communications 1997) 2 3 4 58
  5. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. (PMID: 19019335) Velez DR … Menon R (American journal of obstetrics and gynecology 2009) 3 44 58

Products for PAFAH1B2 Gene

Sources for PAFAH1B2 Gene

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