HGH1 (HGH1 cochaperone)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 51236
Gene name HGH1 cochaperone
Gene symbol HGH1
Synonyms (NCBI Gene)
BRP16BRP16LC8orf30AC8orf30BFAM203AFAM203B
Chromosome 8
Chromosome location 8q24.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25036637, 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620684 24161 ENSG00000235173
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BTY7
Protein name Protein HGH1 homolog
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04063 DUF383 112 → 287 Domain of unknown function (DUF383) Family
PF04064 DUF384 292 → 346 Domain of unknown function (DUF384) Family
Sequence 
MGEAGAGAGASGGPEASPEAEVVKLLPFLAPGARADLQAAAVRHVLALTGCGPGRALLAG
QAALLQALMELAPASAPARDAARALVNLAADPGLHETLLAADPGLPARLMGRALDPQWPW
AEEAAAALANLSREPAPCAALMAALAAAEPADSGLERLVRALCTPGYNARAPLHYLAPLL
SNLSQRPAARAFLLDPDRCVVQRLLPLTQYPDSSVRRGGVVGTLRNCCFEHRHHEWLLGP
EVDILPFLLLPLAGPEDFSEEEMERLPVDLQYLPPDKQREPDADIRKMLVEAIMLLTATA
PGRQQVRDQGAYLILRELHSWEPEPDVRTACEKLIQVLIGDEPERGMENLLEVQVPEDVE
QQLQQLDCREQEQLERELAPEPWVERATPT
Sequence length 390
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein 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 (1)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cystic Fibrosis Cystic Fibrosis BEFREE 1687684
★★★★★
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism BEFREE 1687684
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia BEFREE 10976521
★★★★★
★☆☆☆☆
Found in Text Mining only
Isolated somatotropin deficiency Isolated Somatotropin Deficiency BEFREE 1424197, 1603635
★★★★★
★☆☆☆☆
Found in Text Mining only
Pituitary dwarfism Pituitary dwarfism BEFREE 1424197
★★★★★
★☆☆☆☆
Found in Text Mining only
Somatotropin deficiency Somatotropin Deficiency BEFREE 1603635
★★★★★
★☆☆☆☆
Found in Text Mining only