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CALHM3 calcium homeostasis modulator 3 [ Homo sapiens (human) ]

Gene ID: 119395, updated on 2-Nov-2024

Summary

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Official Symbol
CALHM3provided by HGNC
Official Full Name
calcium homeostasis modulator 3provided by HGNC
Primary source
HGNC:HGNC:23458
See related
Ensembl:ENSG00000183128 MIM:618263; AllianceGenome:HGNC:23458
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM26A; bA225H22.7
Summary
Predicted to enable monoatomic cation channel activity and voltage-gated monoatomic ion channel activity. Predicted to be involved in ATP transport; protein heterooligomerization; and sensory perception of taste. Predicted to be located in basolateral plasma membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See CALHM3 in Genome Data Viewer
Location:
10q24.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (103472804..103479240, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (104360104..104366544, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105232561..105238997, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105211118-105211738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105211739-105212360 Neighboring gene uncharacterized LOC124902494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3961 Neighboring gene calcium homeostasis modulator family member 2 Neighboring gene calcium homeostasis modulator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105235766-105236660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105236661-105237555 Neighboring gene NEURL1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105253807-105254356 Neighboring gene Sharpr-MPRA regulatory region 14515 Neighboring gene neuralized E3 ubiquitin protein ligase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105287340-105287840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105287841-105288341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105323539-105324519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105329056-105329556 Neighboring gene uncharacterized LOC124902496

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population. Shibata N, et al. J Alzheimers Dis, 2010. PMID 20164573
  2. A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Dreses-Werringloer U, et al. Cell, 2008 Jun 27. PMID 18585350, Free PMC Article
  3. Proteome-wide analysis of phospho-regulated PDZ domain interactions. Sundell GN, et al. Mol Syst Biol, 2018 Aug 20. PMID 30126976, Free PMC Article
  4. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Ripke S, et al. Nat Genet, 2013 Oct. PMID 23974872, Free PMC Article
  5. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study failed to show an association between theeight SNPs of the CALHM3 genes and alzheimer disease.
    Title: Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.
  2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IEA
Inferred from Electronic Annotation
more info
  
enables monoatomic cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated monoatomic ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in ATP export IEA
Inferred from Electronic Annotation
more info
  
involved_in ATP transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in protein heterooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sensory perception of taste ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
calcium homeostasis modulator protein 3
Names
family with sequence similarity 26, member A
protein A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001129742.2 → NP_001123214.1  calcium homeostasis modulator protein 3

    See identical proteins and their annotated locations for NP_001123214.1

    Status: VALIDATED

    Source sequence(s)
    AL139339, BC039499, BC043367
    Consensus CDS
    CCDS44476.1
    UniProtKB/Swiss-Prot
    Q5W090, Q86XJ0, Q8IXR2
    Related
    ENSP00000358798.4, ENST00000369783.4
    Conserved Domains (1) summary
    pfam14798
    Location:4 → 251
    Ca_hom_mod; Calcium homeostasis modulator

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    103472804..103479240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    104360104..104366544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_182494.1: Suppressed sequence

    Description
    NM_182494.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86XJ0.2 GenPept UniProtKB/Swiss-Prot:Q86XJ0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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