Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7920
Gene name	Abhydrolase domain containing 16A, phospholipase
Gene symbol	ABHD16A
Synonyms (NCBI Gene)	BAT5D6S82ENG26PP199SPG86hBAT5
Chromosome	6
Chromosome location	6p21.33
Summary	A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by t

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020741	hsa-miR-155-5p	Proteomics	18668040
MIRT044614	hsa-miR-320a	CLASH	23622248
MIRT733181	hsa-miR-4646-5p	Immunohistochemistry (IHC)Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting	33875796
MIRT759680	hsa-miR-1182	CLIP-seq
MIRT759681	hsa-miR-1193	CLIP-seq
MIRT759682	hsa-miR-1229	CLIP-seq
MIRT759683	hsa-miR-1253	CLIP-seq
MIRT759684	hsa-miR-193a-5p	CLIP-seq
MIRT759685	hsa-miR-3120-3p	CLIP-seq
MIRT759686	hsa-miR-3123	CLIP-seq
MIRT759687	hsa-miR-3154	CLIP-seq
MIRT759688	hsa-miR-3179	CLIP-seq
MIRT759689	hsa-miR-3183	CLIP-seq
MIRT759690	hsa-miR-361-3p	CLIP-seq
MIRT759691	hsa-miR-3692	CLIP-seq
MIRT759692	hsa-miR-3919	CLIP-seq
MIRT759693	hsa-miR-4279	CLIP-seq
MIRT759694	hsa-miR-4281	CLIP-seq
MIRT759695	hsa-miR-4286	CLIP-seq
MIRT759696	hsa-miR-4525	CLIP-seq
MIRT759697	hsa-miR-4710	CLIP-seq
MIRT759698	hsa-miR-4716-3p	CLIP-seq
MIRT759699	hsa-miR-4719	CLIP-seq
MIRT759700	hsa-miR-4723-3p	CLIP-seq
MIRT759701	hsa-miR-4792	CLIP-seq
MIRT1923902	hsa-miR-1265	CLIP-seq
MIRT1923903	hsa-miR-1286	CLIP-seq
MIRT1923904	hsa-miR-297	CLIP-seq
MIRT759686	hsa-miR-3123	CLIP-seq
MIRT1923905	hsa-miR-3171	CLIP-seq
MIRT1923906	hsa-miR-380	CLIP-seq
MIRT759692	hsa-miR-3919	CLIP-seq
MIRT759699	hsa-miR-4719	CLIP-seq
MIRT1923907	hsa-miR-4722-5p	CLIP-seq
MIRT1923908	hsa-miR-4781-3p	CLIP-seq
MIRT1923909	hsa-miR-567	CLIP-seq
MIRT759681	hsa-miR-1193	CLIP-seq
MIRT759686	hsa-miR-3123	CLIP-seq
MIRT759688	hsa-miR-3179	CLIP-seq
MIRT759692	hsa-miR-3919	CLIP-seq
MIRT759696	hsa-miR-4525	CLIP-seq
MIRT759698	hsa-miR-4716-3p	CLIP-seq
MIRT759699	hsa-miR-4719	CLIP-seq
MIRT759681	hsa-miR-1193	CLIP-seq
MIRT759683	hsa-miR-1253	CLIP-seq
MIRT759685	hsa-miR-3120-3p	CLIP-seq
MIRT2467386	hsa-miR-3125	CLIP-seq
MIRT759687	hsa-miR-3154	CLIP-seq
MIRT759688	hsa-miR-3179	CLIP-seq
MIRT2467387	hsa-miR-3184	CLIP-seq
MIRT759690	hsa-miR-361-3p	CLIP-seq
MIRT759691	hsa-miR-3692	CLIP-seq
MIRT2467388	hsa-miR-3916	CLIP-seq
MIRT2467389	hsa-miR-3928	CLIP-seq
MIRT2467390	hsa-miR-423-5p	CLIP-seq
MIRT759694	hsa-miR-4281	CLIP-seq
MIRT759695	hsa-miR-4286	CLIP-seq
MIRT759696	hsa-miR-4525	CLIP-seq
MIRT2467391	hsa-miR-4696	CLIP-seq
MIRT759697	hsa-miR-4710	CLIP-seq
MIRT759698	hsa-miR-4716-3p	CLIP-seq
MIRT759701	hsa-miR-4792	CLIP-seq
MIRT759681	hsa-miR-1193	CLIP-seq
MIRT759683	hsa-miR-1253	CLIP-seq
MIRT759685	hsa-miR-3120-3p	CLIP-seq
MIRT2467386	hsa-miR-3125	CLIP-seq
MIRT759687	hsa-miR-3154	CLIP-seq
MIRT759688	hsa-miR-3179	CLIP-seq
MIRT2467387	hsa-miR-3184	CLIP-seq
MIRT759690	hsa-miR-361-3p	CLIP-seq
MIRT759691	hsa-miR-3692	CLIP-seq
MIRT2467388	hsa-miR-3916	CLIP-seq
MIRT2467389	hsa-miR-3928	CLIP-seq
MIRT2467390	hsa-miR-423-5p	CLIP-seq
MIRT759694	hsa-miR-4281	CLIP-seq
MIRT759695	hsa-miR-4286	CLIP-seq
MIRT759696	hsa-miR-4525	CLIP-seq
MIRT2467391	hsa-miR-4696	CLIP-seq
MIRT759697	hsa-miR-4710	CLIP-seq
MIRT759698	hsa-miR-4716-3p	CLIP-seq
MIRT759701	hsa-miR-4792	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004620	Function	Phospholipase activity	IBA
GO:0004620	Function	Phospholipase activity	IEA
GO:0004620	Function	Phospholipase activity	ISS
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IDA	25290914
GO:0005515	Function	Protein binding	IPI	14667819, 25416956, 29892012, 31515488, 32296183, 36217029
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006660	Process	Phosphatidylserine catabolic process	IBA
GO:0006660	Process	Phosphatidylserine catabolic process	IEA
GO:0006660	Process	Phosphatidylserine catabolic process	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0047372	Function	Monoacylglycerol lipase activity	IBA
GO:0047372	Function	Monoacylglycerol lipase activity	IDA	25290914
GO:0047372	Function	Monoacylglycerol lipase activity	IEA
GO:0052651	Process	Monoacylglycerol catabolic process	IBA
GO:0052651	Process	Monoacylglycerol catabolic process	IDA	25290914
GO:0052651	Process	Monoacylglycerol catabolic process	IEA
GO:1905344	Process	Prostaglandin catabolic process	IDA	25290914
GO:1905344	Process	Prostaglandin catabolic process	IEA

MIM	HGNC	e!Ensembl
142620	13921	ENSG00000204427

O95870

Protein name

Phosphatidylserine lipase ABHD16A (EC 3.1.-.-) (Alpha/beta hydrolase domain-containing protein 16A) (Abhydrolase domain-containing protein 16A) (HLA-B-associated transcript 5) (hBAT5) (Monoacylglycerol lipase ABHD16A) (EC 3.1.1.23) (Protein G5)

Protein function

Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS) (By similarity). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (By s

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00561	Abhydrolase_1	280 → 415	alpha/beta hydrolase fold	Domain

Sequence

MAKLLSCVLGPRLYKIYRERDSERAPASVPETPTAVTAPHSSSWDTYYQPRALEKHADSI
LALASVFWSISYYSSPFAFFYLYRKGYLSLSKVVPFSHYAGTLLLLLAGVACLRGIGRWT
NPQYRQFITILEATHRNQSSENKRQLANYNFDFRSWPVDFHWEEPSSRKESRGGPSRRGV
ALLRPEPLHRGTADTLLNRVKKLPCQITSYLVAHTLGRRMLYPGSVYLLQKALMPVLLQG
QARLVEECNGRRAKLLACDGNEIDTMFVDRRGTAEPQGQKLVICCEGNAGFYEVGCVSTP
LEAGYSVLGWNHPGFAGSTGVPFPQNEANAMDVVVQFAIHRLGFQPQDIIIYAWSIGGFT
ATWAAMSYPDVSAMILDASFDDLVPLALKVMPDSWRGLVTRTVRQHLNLNNAEQLCRYQG
PVLLIRRTKDEIITTTVPEDIMSNRGNDLLLKLLQHRYPRVMAEEGLRVVRQWLEASSQL
EEASIYSRWEVEEDWCLSVLRSYQAEHGPDFPWSVGEDMSADGRRQLALFLARKHLHNFE
ATHCTPLPAQNFQMPWHL

Sequence length

558

Interactions

View interactions

	KEGG
	Glycerolipid metabolism Metabolic pathways

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 Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive complex spastic paraplegia	Likely pathogenic	rs2151220219	RCV001723249	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex hereditary spastic paraplegia	Pathogenic	rs774259910, rs2151256799	RCV001568339 RCV001568340	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 86, autosomal recessive	Pathogenic	rs774259910, rs2151256799, rs2151231096	RCV001826349 RCV001826350 RCV001834545	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ABHD16A-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 86	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATED HEREDITARY SPASTIC PARAPLEGIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	20626023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34587489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34587489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	20626023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	34587489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABHD16A (abhydrolase domain containing 16A, phospholipase)