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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] See more...
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 IB Subunit Alpha2 3 4
- 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
- EC 3.1.1.47 4 50
- Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Beta Subunit 30kDa 2
- Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Subunit 2 (30kDa) 2
- Intracellular Platelet-Activating Factor Acetylhydrolase Alpha 2 Subunit 3
- Platelet-Activating Factor Acetylhydrolase IB Subunit Beta 3
- Epididymis Secretory Sperm Binding Protein 3
- Epididymis Secretory Protein Li 303 3
- HEL-S-303 3
- PAFAH1B2 5
- PAFAHB 4
External Ids for PAFAH1B2 Gene
- HGNC: 8575
- NCBI Entrez Gene: 5049
- Ensembl: ENSG00000168092
- OMIM®: 602508
- UniProtKB/Swiss-Prot: P68402
Previous GeneCards Identifiers for PAFAH1B2 Gene
- GC11P119367
- GC11P118526
- GC11P117048
- GC11P116552
- GC11P116521
- GC11P112947
- GC11P117014
Summaries 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. Diseases associated with PAFAH1B2 include Lissencephaly and Miller-Dieker Lissencephaly Syndrome. Among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Vesicle-mediated transport. 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 Summary for PAFAH1B2 Gene
-
Alpha2 catalytic subunit of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the action of PAF. The activity and substrate specificity of PAF-AH (I) are affected by its subunit composition. The alpha2/alpha2 homodimer (PAFAH1B2/PAFAH1B2 homodimer) hydrolyzes PAF and 1-O-alkyl-2-acetyl-sn-glycero-3-phosphorylethanolamine (AAGPE) more efficiently than 1-O-alkyl-2-acetyl-sn-glycero-3-phosphoric acid (AAGPA). In contrast, the alpha1/alpha2 heterodimer(PAFAH1B3/PAFAH1B3 heterodimer) hydrolyzes AAGPA more efficiently than PAF, but has little hydrolytic activity towards AAGPE (By similarity). May play a role in male germ cell meiosis during the late pachytenestage and meiotic divisions as well as early spermiogenesis (By similarity).
Additional gene information for PAFAH1B2 Gene
- HGNC (8575)
- NCBI Entrez Gene (5049)
- Ensembl (ENSG00000168092)
- OMIM® (602508)
- UniProtKB/Swiss-Prot (P68402)
- Open Targets Platform(ENSG00000168092)
- Alliance of Genome Resources
- Search for PAFAH1B2 at DataMed
- Search for PAFAH1B2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAFAH1B2 Gene
Genomics for PAFAH1B2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PAFAH1B2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAFAH1B2
- Top Transcription factor binding sites by QIAGEN in the PAFAH1B2 gene promoter:
-
- AML1a
- CREB
- Gfi-1
- NF-AT
- NF-AT1
- NF-AT2
- NF-AT3
- NF-AT4
- Spz1
- STAT3
Genomic Locations for PAFAH1B2 Gene
Latest Assembly
- chr11:117,144,284-117,178,173
- (GRCh38/hg38)
- Size:
- 33,890 bases
- Orientation:
- Plus strand
Previous Assembly
- chr11:117,015,003-117,048,889
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 33,887 bases
- Orientation:
- Plus strand
Genomic View for PAFAH1B2 Gene
Genes around PAFAH1B2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by HGNC
- 11q23.3 by Entrez Gene
- 11q23.3 by Ensembl
PAFAH1B2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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 alpha2
- Protein Accession:
- P68402
- A8DPS5
- A8DPS6
- A8DPS7
- E9PEJ5
- E9PLP3
- O00687
- Q29459
- Q6IBR6
Protein attributes for PAFAH1B2 Gene
- Size:
- 229 amino acids
- Molecular mass:
- 25569 Da
- Quaternary structure:
-
- Forms a catalytic dimer which is either homodimer (alpha2/alpha2 homodimer) or heterodimer with PAFAH1B3 (alpha2/alpha1 heterodimer). Component of the cytosolic (PAF-AH (I)) heterotetrameric enzyme, which is composed of PAFAH1B1 (beta), PAFAH1B2 (alpha2) and PAFAH1B3 (alpha1) subunits. The catalytic activity of the enzyme resides in the alpha1 (PAFAH1B3) and alpha2 (PAFAH1B2) subunits, whereas the beta subunit (PAFAH1B1) has regulatory activity. Trimer formation is not essential for the catalytic activity (By similarity). Interacts (homodimer form) with PAFAH1B1 (homodimer form); PAFAH1B2 competes with NDEL1 for PAFAH1B1 binding (PubMed:15572112). Interacts with VLDLR; this interaction may modulate the Reelin pathway (By similarity).
- Miscellaneous:
-
- Originally the subunits of the type I platelet-activating factor (PAF) acetylhydrolase was named alpha (PAFAH1B1), beta (PAFAH1B2) and gamma (PAFAH1B3) (PubMed:9144386) (By similarity). Now these subunits have been renamed beta (PAFAH1B1), alpha2 (PAFAH1B2) and alpha1 (PAFAH1B3) respectively (By similarity).
Protein Expression for PAFAH1B2 Gene
Selected DME Specific Peptides for PAFAH1B2 Gene
- P68402:
-
- NTAEEVAGGIEAIV
- GFVHSDG
- DIQGDDRWMSQHNRFV
- HVLWRLKNGELENIKPKVIVVWVGTNN
- YAKICKPLHELIMQLLEETPEEK
- EIWRELFSPLHALNF
- VVWVGTNNH
- IVLGLLPRGEKPNPLRQKNAKVN
- HDMFDFLHLTGG
- DCKDKEPDVLFVGDSMVQL
Post-translational modifications for PAFAH1B2 Gene
Other Protein References for PAFAH1B2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
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- Invitrogen Antibodies for PAFAH1B2 (AFLGC-PAFAH1B2)
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Protein products for research
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ProSci Proteins for PAFAH1B2
Assay products for research
- antibodies-online: Show 8 available PAFAH1B2 Elisa Kits ranked by validation data
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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
- InterPro:
- Blocks:
-
- Lipolytic enzyme, G-D-S-L family
Suggested Antigen Peptide Sequences for PAFAH1B2 Gene
- GenScript: Design optimal peptide antigens:
-
- Intracellular platelet-activating factor acetylhydrolase alpha 2 subunit variant 3 (A8DPS7_HUMAN)
- PAF-AH subunit beta (PA1B2_HUMAN)
- cDNA FLJ75836, highly similar to Homo sapiens platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa (PAFAH1B2), mRNA (Q6IBR6_HUMAN)
- PAFAH1B2 protein (Q9BUZ1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P68402UniProtKB/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.
Function for PAFAH1B2 Gene
Molecular function for PAFAH1B2 Gene
- UniProtKB/Swiss-Prot Function:
- Alpha2 catalytic subunit of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the action of PAF. The activity and substrate specificity of PAF-AH (I) are affected by its subunit composition. The alpha2/alpha2 homodimer (PAFAH1B2/PAFAH1B2 homodimer) hydrolyzes PAF and 1-O-alkyl-2-acetyl-sn-glycero-3-phosphorylethanolamine (AAGPE) more efficiently than 1-O-alkyl-2-acetyl-sn-glycero-3-phosphoric acid (AAGPA). In contrast, the alpha1/alpha2 heterodimer(PAFAH1B3/PAFAH1B3 heterodimer) hydrolyzes AAGPA more efficiently than PAF, but has little hydrolytic activity towards AAGPE (By similarity). May play a role in male germ cell meiosis during the late pachytenestage and meiotic divisions as well as early spermiogenesis (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+); Xref=Rhea:RHEA:17777, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:30909, ChEBI:CHEBI:36707; EC=3.1.1.47; Evidence={ECO:0000250|UniProtKB:P68401};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-hexadecyl-sn-glycero-3-phosphocholine + acetate + H(+); Xref=Rhea:RHEA:40479, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:44811, ChEBI:CHEBI:64496; Evidence={ECO:0000250|UniProtKB:P68401};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphate + H2O = 1-O-hexadecyl-sn-glycero-3-phosphate + acetate + H(+); Xref=Rhea:RHEA:41704, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:77580, ChEBI:CHEBI:78385; Evidence={ECO:0000250|UniProtKB:P68401};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphoethanolamine + H2O = 1-O-hexadecyl-sn-glycero-3-phosphoethanolamine + acetate + H(+); Xref=Rhea:RHEA:41708, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:78387, ChEBI:CHEBI:78390; Evidence={ECO:0000250|UniProtKB:P68401};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Beta subunit (PAFAH1B1) stimulates the acetylhydrolase activity of the alpha2/alpha2 catalytic homodimer.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003847 | 1-alkyl-2-acetylglycerophosphocholine esterase activity | ISS | -- |
| GO:0005515 | protein binding | IPI | 15572112 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0042802 | identical protein binding | IEA | -- |
| GO:0042803 | protein homodimerization activity | ISS | -- |
Phenotypes for PAFAH1B2 Gene
- MGI mutant phenotypes for PAFAH1B2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PAFAH1B2:
Animal Models for PAFAH1B2 Gene
- MGI Knock Outs for PAFAH1B2:
-
- Pafah1b2 Pafah1b2<tm1Arai>
Animal Models for research
-
Taconic Biosciences Mouse Models for PAFAH1B2
CRISPR products for research
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miRNA for PAFAH1B2 Gene
- miRTarBase miRNAs that target PAFAH1B2
-
- hsa-miR-16-5p (MIRT001434)
- hsa-miR-30a-5p (MIRT005183)
- mmu-miR-340-5p (MIRT010239)
- mmu-miR-30e-5p (MIRT013204)
- mmu-miR-149-5p (MIRT014528)
- hsa-miR-615-3p (MIRT039716)
- hsa-miR-15a-5p (MIRT179008)
- hsa-miR-103a-3p (MIRT179009)
- hsa-miR-107 (MIRT179010)
- hsa-miR-15b-5p (MIRT179011)
- hsa-miR-195-5p (MIRT179012)
- hsa-miR-369-3p (MIRT179013)
- hsa-miR-424-5p (MIRT179014)
- hsa-miR-497-5p (MIRT179015)
- hsa-miR-519d-5p (MIRT179016)
- hsa-miR-4291 (MIRT179018)
- hsa-miR-5692a (MIRT179020)
- hsa-miR-6074 (MIRT179021)
- hsa-miR-6838-5p (MIRT179022)
- hsa-miR-7848-3p (MIRT179023)
- hsa-miR-3613-3p (MIRT179031)
- hsa-miR-3662 (MIRT179032)
- hsa-miR-2681-5p (MIRT179045)
- hsa-miR-3646 (MIRT179046)
- hsa-miR-379-5p (MIRT179051)
- hsa-miR-3163 (MIRT179055)
- hsa-miR-3935 (MIRT179057)
- hsa-miR-4451 (MIRT179058)
- hsa-miR-4650-3p (MIRT179059)
- hsa-miR-3529-5p (MIRT179060)
- hsa-miR-6764-3p (MIRT179061)
- hsa-miR-6824-3p (MIRT179062)
- hsa-miR-7705 (MIRT179063)
- hsa-miR-7852-3p (MIRT179064)
- hsa-miR-19a-3p (MIRT179065)
- hsa-miR-19b-3p (MIRT179066)
- hsa-miR-130a-3p (MIRT179067)
- hsa-miR-301a-3p (MIRT179068)
- hsa-miR-130b-3p (MIRT179069)
- hsa-miR-518a-5p (MIRT179070)
- hsa-miR-527 (MIRT179071)
- hsa-miR-454-3p (MIRT179073)
- hsa-miR-301b-3p (MIRT179074)
- hsa-miR-4295 (MIRT179075)
- hsa-miR-3666 (MIRT179076)
- hsa-miR-4671-3p (MIRT179078)
- hsa-miR-4477b (MIRT179092)
- hsa-miR-559 (MIRT179094)
- hsa-miR-548b-5p (MIRT179095)
- hsa-miR-548a-5p (MIRT179096)
- hsa-miR-548c-5p (MIRT179097)
- hsa-miR-548d-5p (MIRT179098)
- hsa-miR-548j-5p (MIRT179099)
- hsa-miR-548h-5p (MIRT179100)
- hsa-miR-548i (MIRT179101)
- hsa-miR-548w (MIRT179102)
- hsa-miR-548y (MIRT179103)
- hsa-miR-548o-5p (MIRT179104)
- hsa-miR-548ab (MIRT179105)
- hsa-miR-548ad-5p (MIRT179106)
- hsa-miR-548ae-5p (MIRT179107)
- hsa-miR-548ak (MIRT179108)
- hsa-miR-548am-5p (MIRT179109)
- hsa-miR-548ap-5p (MIRT179110)
- hsa-miR-548aq-5p (MIRT179111)
- hsa-miR-548ar-5p (MIRT179112)
- hsa-miR-548as-5p (MIRT179113)
- hsa-miR-548au-5p (MIRT179114)
- hsa-miR-548ay-5p (MIRT179116)
- hsa-miR-548bb-5p (MIRT179117)
- hsa-miR-802 (MIRT230754)
- hsa-miR-3126-3p (MIRT230762)
- hsa-miR-3128 (MIRT230763)
- hsa-miR-214-3p (MIRT245860)
- hsa-miR-761 (MIRT245862)
- hsa-miR-922 (MIRT245863)
- hsa-miR-3619-5p (MIRT245865)
- hsa-miR-187-5p (MIRT264768)
- hsa-miR-221-3p (MIRT264769)
- hsa-miR-222-3p (MIRT264770)
- hsa-miR-506-5p (MIRT264771)
- hsa-miR-2053 (MIRT264772)
- hsa-miR-548v (MIRT264773)
- hsa-miR-4666a-5p (MIRT264774)
- hsa-miR-892c-5p (MIRT264775)
- hsa-miR-186-5p (MIRT264776)
- hsa-miR-548k (MIRT264785)
- hsa-miR-548l (MIRT264786)
- hsa-miR-548av-5p (MIRT264790)
- hsa-miR-8054 (MIRT264791)
- hsa-miR-5585-3p (MIRT264800)
- hsa-miR-222-5p (MIRT331742)
- hsa-miR-3609 (MIRT331761)
- hsa-miR-548ah-5p (MIRT331762)
- hsa-miR-369-5p (MIRT440055)
- hsa-miR-7856-5p (MIRT471670)
- hsa-miR-6892-5p (MIRT471671)
- hsa-miR-4668-5p (MIRT471672)
- hsa-miR-3148 (MIRT471673)
- hsa-miR-329-5p (MIRT471674)
- hsa-miR-5584-5p (MIRT471675)
- hsa-miR-4475 (MIRT471677)
- hsa-miR-642a-5p (MIRT506315)
- hsa-miR-2276-5p (MIRT506316)
- hsa-miR-6892-3p (MIRT506317)
- hsa-miR-4774-5p (MIRT511004)
- hsa-miR-4490 (MIRT511005)
- hsa-miR-1273e (MIRT522046)
- hsa-miR-137 (MIRT522047)
- hsa-miR-5588-5p (MIRT535537)
- hsa-miR-4799-3p (MIRT535538)
- hsa-miR-4720-5p (MIRT535539)
- hsa-miR-6868-5p (MIRT535540)
- hsa-miR-4470 (MIRT555876)
- hsa-miR-4680-5p (MIRT555877)
- hsa-miR-569 (MIRT555878)
- hsa-miR-16-1-3p (MIRT555879)
- hsa-miR-4714-3p (MIRT555880)
- hsa-miR-1468-3p (MIRT561808)
- hsa-miR-4719 (MIRT561809)
- hsa-miR-8063 (MIRT561810)
- hsa-miR-548p (MIRT561811)
- hsa-miR-330-3p (MIRT561812)
- hsa-miR-3145-3p (MIRT561813)
- mmu-miR-1933-3p (MIRT605966)
- mmu-miR-3082-5p (MIRT605967)
- mmu-miR-706 (MIRT605968)
- mmu-miR-10b-5p (MIRT605969)
- mmu-miR-10a-5p (MIRT605970)
- mmu-miR-339-5p (MIRT605971)
- mmu-miR-431-5p (MIRT605972)
- mmu-miR-669e-5p (MIRT605973)
- mmu-miR-694 (MIRT605974)
- hsa-miR-6514-3p (MIRT634465)
- hsa-miR-7977 (MIRT634466)
- hsa-miR-24-3p (MIRT634467)
- hsa-miR-4284 (MIRT634468)
- hsa-miR-564 (MIRT634469)
- hsa-miR-6847-3p (MIRT634470)
- hsa-miR-6811-3p (MIRT634471)
- hsa-miR-214-5p (MIRT634472)
- hsa-miR-4755-3p (MIRT634473)
- hsa-miR-4673 (MIRT634474)
- hsa-miR-4645-5p (MIRT634475)
- hsa-miR-6715b-5p (MIRT634476)
- hsa-miR-4269 (MIRT634477)
- hsa-miR-3622a-5p (MIRT634478)
- hsa-miR-4753-5p (MIRT634479)
- hsa-miR-8058 (MIRT701155)
- hsa-miR-5009-5p (MIRT701156)
miRNA products for research
Inhibitory RNAs for research
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Clone products for research
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Cell Lines for research
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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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 4 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (3)
- Nucleoli (1)
- Plasma membrane (1)
| 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 | IBA,TAS | 16130169 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for PAFAH1B2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Golgi-to-ER retrograde transport | ||
| 3 | Vesicle-mediated transport | ||
| 4 | Acyl chain remodelling of PE | ||
| 5 | Metabolism | ||
Pathways by source for PAFAH1B2 Gene
1 BioSystems pathway for PAFAH1B2 Gene
8 Reactome pathways for PAFAH1B2 Gene
2 KEGG pathways for PAFAH1B2 Gene
Interacting Proteins for PAFAH1B2 Gene
Selected Interacting proteins:
P68402-PA1B2_HUMAN
ENSP00000435289
for PAFAH1B2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PAFAH1B2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | TAS | 9144386 |
| GO:0007283 | spermatogenesis | ISS | -- |
| GO:0007420 | brain development | IBA | 21873635 |
| GO:0016042 | lipid catabolic process | IEA | -- |
| GO:0016239 | positive regulation of macroautophagy | IMP | 22354037 |
Drugs & Compounds for PAFAH1B2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| LysoPC(0:0/18:0) |
|
4421-58-3 |
|
|||
| LysoPC(10:0/0:0) |
|
22248-63-1 |
|
|||
| LysoPC(14:0/0:0) |
|
20559-16-4 |
|
|||
| LysoPC(14:1(9Z)/0:0) |
|
|
||||
| LysoPC(15:0/0:0) |
|
|
(1) ApexBio Compounds for PAFAH1B2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Gossypol | PAF inhibitor;anti-fertility and anti-cancer | 303-45-7 |
Drug products for research
- ApexBio compounds for PAFAH1B2
Transcripts for PAFAH1B2 Gene
mRNA/cDNA for PAFAH1B2 Gene
- 5 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000304808 821 nts (view in UCSC)
- ENST00000419197 2517 nts (view in UCSC)
- ENST00000526888 1099 nts (view in UCSC)
- ENST00000527958 4175 nts (view in UCSC)
- ENST00000529887 1056 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PAFAH1B2 - Starting at $85 >
- * PAFAH1B2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PAFAH1B2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PAFAH1B2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PAFAH1B2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PAFAH1B2
- Browse OriGene Inhibitory RNA Products For PAFAH1B2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAFAH1B2
Clone products for research
- Applied Biological Materials (abm): Clones for PAFAH1B2 - Starting at $45 >
- * PAFAH1B2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG202751
- MR202751
- MR202751L3
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- RC201313
- RC201313L1
- RC201313L2
- RC201313L3
- RC201313L4
- RC229565
- RC229565L3
- RC229565L4
- RC229600
- RC229600L3
- RC229600L4
- RC229680
- RC229680L3
- RC229680L4
- RG201313
- RG229565
- RG229600
- RG229680
- RR208585
- RR208585L3
- RR208585L4
- MR202751L3V
- MR202751L4V
- RC201313L1V
- RC201313L2V
- RC201313L3V
- RC201313L4V
- RC229565L3V
- RC229565L4V
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- RC229680L3V
- RC229680L4V
- RR208585L3V
- RR208585L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PAFAH1B2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PAFAH1B2
Relevant External Links for PAFAH1B2 Gene
- GeneLoc Exon Structure for
- PAFAH1B2
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAFAH1B2
SOURCE GeneReport for Unigene cluster for PAFAH1B2 Gene:
Hs.728488mRNA 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(4.5)
- Kidney(2.4)
- Spleen(2)
Primer products for research
-
OriGene qPCR primer pairs for PAFAH1B2
-
OriGene qPCR primer pairs and template standards for PAFAH1B2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PAFAH1B2 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PAFAH1B2 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PAFAH1B2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PAFAH1B2 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pafah1b2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pafah1b2 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PAFAH1B2 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PAFAH1B2 29 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pafah1b2 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC69176 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pafah1b2 29 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000939 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Paf-AHalpha 29 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for PAFAH1B2 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)
- 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 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)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for PAFAH1B2
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
Variants for PAFAH1B2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAFAH1B2 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs150351376 | Benign: not provided | 117,152,483(+) |
G/T NM_002572.4(PAFAH1B2):c.36G>T (p.Pro12=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAFAH1B2 Gene
Disorders for PAFAH1B2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lissencephaly |
|
|
| miller-dieker lissencephaly syndrome |
|
|
Search PAFAH1B2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PAFAH1B2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PAFAH1B2 Gene
Publications for PAFAH1B2 Gene
- 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
- 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 40
- 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
- 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
- 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 40
ExternalLinks
Products for PAFAH1B2 Gene
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- RC229565
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Taconic Biosciences Mouse Models for PAFAH1B2
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Sources for PAFAH1B2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
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- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
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- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
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- (46) HUGE
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- (48) Leiden
- (49) miRBase
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- (56) Novus Biologicals
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- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
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- (78) MaxQB
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- (176) Alliance of Genome Resources