Gene Gene information from NCBI Gene database.
Entrez ID 27069
Gene name Growth hormone inducible transmembrane protein
Gene symbol GHITM
Synonyms (NCBI Gene)
DERP2HSPC282MICS1My021PTD010TMBIM5
Chromosome 10
Chromosome location 10q23.1
miRNA miRNA information provided by mirtarbase database.
399
miRTarBase ID miRNA Experiments Reference
MIRT020689 hsa-miR-155-5p Proteomics 18668040
MIRT049899 hsa-miR-31-5p CLASH 23622248
MIRT049029 hsa-miR-92a-3p CLASH 23622248
MIRT046332 hsa-miR-23b-3p CLASH 23622248
MIRT042056 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0005262 Function Calcium channel activity IBA
GO:0005515 Function Protein binding IPI 21903422, 28514442, 32296183, 32353859, 32814053, 33060197, 35912435, 36217030, 36321428
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619205 17281 ENSG00000165678
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3K2
Protein name Growth hormone-inducible transmembrane protein (Dermal papilla-derived protein 2) (Mitochondrial morphology and cristae structure 1) (MICS1) (Transmembrane BAX inhibitor motif-containing protein 5)
Protein function Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:18417609, PubMed:32977469, PubMed:35912435, PubMed:36321428). Mediates proton-dependent calcium efflux from m
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01027 Bax1-I 121 337 Inhibitor of apoptosis-promoting Bax1 Family
Sequence
Sequence length 345
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
SLEEP APNEA 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
Asthma Asthma Pubtator 23790102 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40489916 Associate
★☆☆☆☆
Found in Text Mining only