CALHM4 (calcium homeostasis modulator family member 4)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 221301
Gene name Calcium homeostasis modulator family member 4
Gene symbol CALHM4
Synonyms (NCBI Gene)
C6orf78FAM26D
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.
8
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0005261 Function Monoatomic cation channel activity IBA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0006811 Process Monoatomic ion transport IEA
GO:0016020 Component Membrane IEA
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
HGNC N/A HGNC
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.
Q5JW98
Protein name Calcium homeostasis modulator protein 4 (Protein FAM26D)
Protein function May assemble to form gap junction channel-like structures involved in intercellular communication. Channel gating and ion conductance are likely regulated by membrane lipids rather than by membrane depolarization or extracellular calcium levels.
PDB 6YTK , 6YTL , 6YTO , 6YTQ , 8RML , 8RMM , 8RMN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14798 Ca_hom_mod 4 → 257 Calcium homeostasis modulator Family
Tissue specificity TISSUE SPECIFICITY: Placenta. {ECO:0000269|PubMed:32374262}.
Sequence
Sequence length 314
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
PELVIC ORGAN PROLAPSE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations