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Gene Gene information from NCBI Gene database.
Entrez ID 84439
Gene name HHIP like 1
Gene symbol HHIPL1
Synonyms (NCBI Gene)
KIAA1822UNQ9245
Chromosome 14
Chromosome location 14q32.2
Summary This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]
miRNA miRNA information provided by mirtarbase database.
139 Show/Hide all (139)
miRTarBase ID miRNA Experiments Reference
MIRT641073 hsa-miR-362-5p HITS-CLIP 23824327
MIRT641072 hsa-miR-500b-5p HITS-CLIP 23824327
MIRT641071 hsa-miR-501-5p HITS-CLIP 23824327
MIRT641070 hsa-miR-885-5p HITS-CLIP 23824327
MIRT647356 hsa-miR-877-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11 Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 32296183
GO:0005575 Component Cellular_component ND
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region 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.
Q96JK4
Protein name HHIP-like protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00530 SRCR 679 → 776 Scavenger receptor cysteine-rich domain Domain
PF03024 Folate_rec 22 → 183 Folate receptor family Domain
PF07995 GSDH 193 → 527 Glucose / Sorbosone dehydrogenase Domain
Sequence
Sequence length 782
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
CARDIOVASCULAR DISEASE — GWAS catalog 37947095
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME — GWAS catalog 35332129
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — CTD, GWAS catalog
CTD, GWAS catalog
21378990, 26343387, 28714975, 29212778, 32469254, 33020668, 35285134, 36474045, 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (15)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 23045325
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 24573017, 31163988
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 24573017, 31163988
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 29655894
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis CTD_human_DG 21378990
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 31163988
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease CTD_human_DG 21378990
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease GWASDB_DG 23202125
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease GWASCAT_DG 26343387, 28714975, 29212778
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease BEFREE 31163988
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations