PAFAH1B2 (platelet activating factor acetylhydrolase 1b catalytic subunit 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5049
Gene name Platelet activating factor acetylhydrolase 1b catalytic subunit 2
Gene symbol PAFAH1B2
Synonyms (NCBI Gene)
HEL-S-303
Chromosome 11
Chromosome location 11q23.3
Summary 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 varia
miRNA miRNA information provided by mirtarbase database.
2383
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2383)
miRTarBase ID miRNA Experiments Reference
MIRT005183 hsa-miR-30a-5p pSILAC 18668040
MIRT001434 hsa-miR-16-5p pSILAC 18668040
MIRT005183 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT001434 hsa-miR-16-5p Proteomics;Other 18668040
MIRT039716 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0003847 Function 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA
GO:0003847 Function 1-alkyl-2-acetylglycerophosphocholine esterase activity ISS
GO:0005515 Function Protein binding IPI 15572112, 16189514, 27173435, 32296183, 32814053, 33961781
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602508 8575 ENSG00000168092
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P68402
Protein name Platelet-activating factor acetylhydrolase IB subunit alpha2 (EC 3.1.1.47) (PAF acetylhydrolase 30 kDa subunit) (PAF-AH 30 kDa subunit) (PAF-AH subunit beta) (PAFAH subunit beta)
Protein 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
PDB 1VYH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13472 Lipase_GDSL_2 44 → 204 GDSL-like Lipase/Acylhydrolase family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9144386}.
Sequence
Sequence length 229
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Ether lipid metabolism
Metabolic pathways 		  Neutrophil degranulation
COPI-independent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 31162550 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29758199
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 29758199
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 25602368
★★★★★
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome Metabolic syndrome Pubtator 38201907 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Multiple Myeloma Multiple myeloma Pubtator 37775746 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25602368
★★★★★
★☆☆☆☆
Found in Text Mining only
Pancreatic carcinoma Pancreatic carcinoma BEFREE 29758199
★★★★★
★☆☆☆☆
Found in Text Mining only
Pancreatic Ductal Adenocarcinoma Pancreatic adenocarcinoma BEFREE 29758199
★★★★★
★☆☆☆☆
Found in Text Mining only