Gene Gene information from NCBI Gene database.
Entrez ID 255022
Gene name Calcium homeostasis modulator 1
Gene symbol CALHM1
Synonyms (NCBI Gene)
FAM26C
Chromosome 10
Chromosome location 10q24.33
Summary This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer`s disease in some populations, but the patho
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs371900329 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
200
miRTarBase ID miRNA Experiments Reference
MIRT859025 hsa-miR-1236 CLIP-seq
MIRT859026 hsa-miR-1260 CLIP-seq
MIRT859027 hsa-miR-1260b CLIP-seq
MIRT859028 hsa-miR-1262 CLIP-seq
MIRT859029 hsa-miR-138 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0005227 Function Calcium-activated cation channel activity IDA 22711817
GO:0005244 Function Voltage-gated monoatomic ion channel activity IDA 22711817, 23300080
GO:0005244 Function Voltage-gated monoatomic ion channel activity IEA
GO:0005245 Function Voltage-gated calcium channel activity IEA
GO:0005261 Function Monoatomic cation channel activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612234 23494 ENSG00000185933
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IU99
Protein name Calcium homeostasis modulator protein 1 (Protein FAM26C)
Protein function Pore-forming subunit of gustatory voltage-gated ion channels required for sensory perception of sweet, bitter and umami tastes (By similarity). With CALHM3 forms a fast-activating voltage-gated ATP-release channel in type II taste bud cells, ATP
PDB 8GMP , 8GMR , 8S8Z , 8S90
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14798 Ca_hom_mod 2 256 Calcium homeostasis modulator Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in adult brain. Detected also in retinoic acid-differentiated SH-SY5Y cells. Specifically expressed in circumvallate taste bud cells. {ECO:0000269|PubMed:18585350, ECO:0000269|PubMed:19997627}.
Sequence
Sequence length 346
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Taste transduction  
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
URINARY BLADDER NEOPLASMS CTD
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 18585350, 19191331, 19472444, 20005921, 20634593, 21574960, 21629967, 22874670, 24069280, 26416646, 31745181 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 24069280
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 19191331, 19472444, 20164573, 20164592, 20164602, 20634593, 23884934
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 26039340
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 21378601
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 20005921
★☆☆☆☆
Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic Creutzfeldt-Jakob disease BEFREE 22874670
★☆☆☆☆
Found in Text Mining only
Diabetic Neuralgia Diabetic Neuralgia BEFREE 26781424
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 26166206 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 21439911
★☆☆☆☆
Found in Text Mining only