CALHM6 (calcium homeostasis modulator family member 6)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 441168
Gene name Calcium homeostasis modulator family member 6
Gene symbol CALHM6
Synonyms (NCBI Gene)
C6orf187FAM26FINAMdJ93H18.5
Chromosome 6
Chromosome location 6q22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IEA
GO:0002727 Process Regulation of natural killer cell cytokine production IEA
GO:0005261 Function Monoatomic cation channel activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
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
617305 33391 ENSG00000188820
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.
Q5R3K3
Protein name Calcium homeostasis modulator protein 6 (Protein FAM26F)
Protein function Pore-forming subunit of an ATP-permeable channel (By similarity). In response to pathogen-derived and proinflammatory stimuli, relocates from intracellular compartments to NK-dendritic cell and NK-macrophage immune synapses where it mediates ATP
PDB 6YTV , 6YTX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14798 Ca_hom_mod 1 → 246 Calcium homeostasis modulator Family
Tissue specificity TISSUE SPECIFICITY: Placenta. {ECO:0000269|PubMed:32374262}.
Sequence
Sequence length 315
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 (3)
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
Familial cancer of breast Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes BEFREE 27902344
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27784631
★★★★★
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis BEFREE 27384923
★★★★★
★☆☆☆☆
Found in Text Mining only
Situs Inversus Situs Inversus BEFREE 27902344
★★★★★
★☆☆☆☆
Found in Text Mining only
Ulcerative Colitis Ulcerative colitis BEFREE 25082827
★★★★★
★☆☆☆☆
Found in Text Mining only