Gene Gene information from NCBI Gene database.
Entrez ID 145447
Gene name Abhydrolase domain containing 12B
Gene symbol ABHD12B
Synonyms (NCBI Gene)
BEM46L3C14orf29c14_5314
Chromosome 14
Chromosome location 14q22.1
miRNA miRNA information provided by mirtarbase database.
40
miRTarBase ID miRNA Experiments Reference
MIRT018993 hsa-miR-335-5p Microarray 18185580
MIRT759540 hsa-miR-2053 CLIP-seq
MIRT759541 hsa-miR-31 CLIP-seq
MIRT759542 hsa-miR-3662 CLIP-seq
MIRT759543 hsa-miR-3674 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0004622 Function Phosphatidylcholine lysophospholipase activity IBA
GO:0005515 Function Protein binding IPI 32814053
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0006660 Process Phosphatidylserine catabolic process IBA
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z5M8
Protein name Protein ABHD12B (EC 3.-.-.-) (Abhydrolase domain-containing protein 12B) (Alpha/beta hydrolase domain-containing protein 12B)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12146 Hydrolase_4 137 280 Serine aminopeptidase, S33 Family
Sequence
MDAQDCQAAASPEPPGPPARSCVAAWWDMVDRNLRYFPHSCSMLGRKIAALYDSFTSKSL
KEHVFLPLIDMLIYFNFFKAPFLVDLKKPELKIPHTVNFYLRVEPGVMLGIWHTVPSCRG
EDAKGKDCCWYEAALRDGNPIIVYLHGSAEHRAASHRLKLVKVLSDGGFHVLSVDYRGFG
DSTGKPTEEGLTTDAICVYEWTKARSGITPVCLWGHSLGTGVATNAAKVLEEKGCPVDAI
VLEAPFTNMWVASINYPLLKIYRNIPGFLRTLMDALRKDK
IIFPNDENVKFLSSPLLILH
GEDDRTVPLEYGKKLYEIARNAYRNKERVKMVIFPPGFQHNLLCKSPTLLITVRDFLSKQ
WS
Sequence length 362
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RECTUM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Embryonal Embryonal carcinoma Pubtator 26659575 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Periodontitis Periodontitis BEFREE 25056994
★☆☆☆☆
Found in Text Mining only
Chronic Periodontitis Periodontitis Pubtator 25056994, 36360171 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Periodontitis Periodontitis Pubtator 35179257 Associate
★☆☆☆☆
Found in Text Mining only
Testicular Germ Cell Tumor Testicular germ cell tumor Pubtator 26659575 Associate
★☆☆☆☆
Found in Text Mining only