Gene Gene information from NCBI Gene database.
Entrez ID 84264
Gene name Hydroxyacylglutathione hydrolase like
Gene symbol HAGHL
Synonyms (NCBI Gene)
-
Chromosome 16
Chromosome location 16p13.3
miRNA miRNA information provided by mirtarbase database.
7
miRTarBase ID miRNA Experiments Reference
MIRT2008494 hsa-miR-1914 CLIP-seq
MIRT2008495 hsa-miR-3545-5p CLIP-seq
MIRT2008496 hsa-miR-3657 CLIP-seq
MIRT2008497 hsa-miR-4481 CLIP-seq
MIRT2008498 hsa-miR-4669 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0004416 Function Hydroxyacylglutathione hydrolase activity IBA
GO:0005515 Function Protein binding IPI 32814053
GO:0016787 Function Hydrolase activity IEA
GO:0046872 Function Metal ion binding 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.
Q6PII5
Protein name Hydroxyacylglutathione hydrolase-like protein (EC 3.1.2.-)
Protein function Hydrolase acting on ester bonds.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00753 Lactamase_B 22 172 Metallo-beta-lactamase superfamily Domain
Sequence
MKVKVIPVLEDNYMYLVIEELTREAVAVDVAVPKRLLEIVGREGVSLTAVLTTHHHWDHA
RGNPELARLRPGLAVLGADERIFSLTRRLAHGEELRFGAIHVRCLLTPGHTAGHMSYFLW
EDDCPDPPALFSGDALSVAGCGSCLEGSAQQMYQSLAELGTLPPETKVFCGH
EHTLSNLE
FAQKVEPCNDHVRAKLSWAKARPLSRRGKRVGGEGTGFGVGGALRQGLMVTGACGHSRRG
MRMTCPLCRRLWARSASTTPSCGWREYGCCPGASTVTWTLRKASGDCVLG
Sequence length 290
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE 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
Head and Neck Neoplasms Head and neck neoplasm Pubtator 33338273 Associate
★☆☆☆☆
Found in Text Mining only