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CALHM2 calcium homeostasis modulator family member 2 [ Homo sapiens (human) ]

Gene ID: 51063, updated on 11-Apr-2024

Summary

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Official Symbol
CALHM2provided by HGNC
Official Full Name
calcium homeostasis modulator family member 2provided by HGNC
Primary source
HGNC:HGNC:23493
See related
Ensembl:ENSG00000138172 MIM:612235; AllianceGenome:HGNC:23493
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
FAM26B
Summary
Predicted to enable cation channel activity. Involved in positive regulation of apoptotic process. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 19.8), endometrium (RPKM 13.4) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
10q24.33
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (103446786..103452370, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (104334092..104339676, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105206543..105212127, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105155495-105156327 Neighboring gene ATP synthase membrane subunit k Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105156867-105157368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105157369-105157869 Neighboring gene microRNA 1307 Neighboring gene programmed cell death 11 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 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 calcium homeostasis modulator 3

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
  • 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. The structures and gating mechanism of human calcium homeostasis modulator 2. Choi W, et al. Nature, 2019 Dec. PMID 31776515, Free PMC Article
  2. Structure and assembly of calcium homeostasis modulator proteins. Syrjanen JL, et al. Nat Struct Mol Biol, 2020 Feb. PMID 31988524, Free PMC Article
  3. 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
  4. 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
  5. Cell-based screening and validation of human novel genes associated with cell viability. Wang L, et al. J Biomol Screen, 2006 Jun. PMID 16751333

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular dynamics simulations suggest that lipids can favorably assemble into a bilayer within the larger human CALHM2 pore, but not within chicken CALHM1, demonstrating the potential correlation between pore size, lipid accommodation and channel activity.
    Title: Structure and assembly of calcium homeostasis modulator proteins.
  2. shows that purified CALHM2 channels form both gap junctions and undecameric hemichannels
    Title: The structures and gating mechanism of human calcium homeostasis modulator 2.
  3. This study failed to show an association between theeight SNPs of the CALHM2 genes and alzheimer disease.
    Title: Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.
  4. 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.
  5. 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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables monoatomic cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in monoatomic cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
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 2
Names
calcium homeostasis modulator 2
family with sequence similarity 26, member B

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_015916.5 → NP_057000.2  calcium homeostasis modulator protein 2

    See identical proteins and their annotated locations for NP_057000.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
    Source sequence(s)
    BC000039, CA432041, DB109582
    Consensus CDS
    CCDS7549.1
    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72
    Related
    ENSP00000260743.5, ENST00000260743.10
    Conserved Domains (1) summary
    pfam14798
    Location:7 → 256
    Ca_hom_mod; Calcium homeostasis modulator

RNA

  1. NR_024552.2 RNA Sequence

    Status: VALIDATED

    Description
    This variant (2) contains an alternate 5' splice site, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF131810, CA432041, DB109582

  2. NR_046344.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' splice site, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK022195, BC000039, CA432041

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    103446786..103452370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016309.3 → XP_016871798.1  calcium homeostasis modulator protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q9HA72
    Conserved Domains (1) summary
    pfam14798
    Location:9 → 180
    Ca_hom_mod; Calcium homeostasis modulator

  2. XM_006717883.3 → XP_006717946.1  calcium homeostasis modulator protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006717946.1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72
    Conserved Domains (1) summary
    pfam14798
    Location:7 → 256
    Ca_hom_mod; Calcium homeostasis modulator

  3. XM_047425280.1 → XP_047281236.1  calcium homeostasis modulator protein 2 isoform X2

  4. XM_047425271.1 → XP_047281227.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  5. XM_047425281.1 → XP_047281237.1  calcium homeostasis modulator protein 2 isoform X2

  6. XM_017016307.2 → XP_016871796.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72
    Conserved Domains (1) summary
    pfam14798
    Location:7 → 256
    Ca_hom_mod; Calcium homeostasis modulator

  7. XM_006717884.5 → XP_006717947.1  calcium homeostasis modulator protein 2 isoform X2

    See identical proteins and their annotated locations for XP_006717947.1

    UniProtKB/Swiss-Prot
    Q9HA72
    Conserved Domains (1) summary
    pfam14798
    Location:9 → 180
    Ca_hom_mod; Calcium homeostasis modulator

  8. XM_011539848.3 → XP_011538150.1  calcium homeostasis modulator protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011538150.1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72
    Conserved Domains (1) summary
    pfam14798
    Location:7 → 256
    Ca_hom_mod; Calcium homeostasis modulator

  9. XM_047425277.1 → XP_047281233.1  calcium homeostasis modulator protein 2 isoform X2

  10. XM_006717880.3 → XP_006717943.1  calcium homeostasis modulator protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006717943.1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72
    Related
    ENSP00000358803.3, ENST00000369788.7
    Conserved Domains (1) summary
    pfam14798
    Location:7 → 256
    Ca_hom_mod; Calcium homeostasis modulator

  11. XM_047425282.1 → XP_047281238.1  calcium homeostasis modulator protein 2 isoform X2

  12. XM_047425272.1 → XP_047281228.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  13. XM_047425279.1 → XP_047281235.1  calcium homeostasis modulator protein 2 isoform X2

  14. XM_047425268.1 → XP_047281224.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  15. XM_017016308.3 → XP_016871797.1  calcium homeostasis modulator protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q9HA72
    Conserved Domains (1) summary
    pfam14798
    Location:9 → 180
    Ca_hom_mod; Calcium homeostasis modulator

  16. XM_017016306.2 → XP_016871795.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72
    Conserved Domains (1) summary
    pfam14798
    Location:7 → 256
    Ca_hom_mod; Calcium homeostasis modulator

  17. XM_024448035.2 → XP_024303803.1  calcium homeostasis modulator protein 2 isoform X2

  18. XM_024448034.2 → XP_024303802.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72
    Conserved Domains (1) summary
    pfam14798
    Location:7 → 256
    Ca_hom_mod; Calcium homeostasis modulator

  19. XM_047425278.1 → XP_047281234.1  calcium homeostasis modulator protein 2 isoform X2

  20. XM_047425270.1 → XP_047281226.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  21. XM_047425275.1 → XP_047281231.1  calcium homeostasis modulator protein 2 isoform X2

  22. XM_047425267.1 → XP_047281223.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  23. XM_047425274.1 → XP_047281230.1  calcium homeostasis modulator protein 2 isoform X2

  24. XM_047425265.1 → XP_047281221.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  25. XM_047425269.1 → XP_047281225.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  26. XM_047425266.1 → XP_047281222.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  27. XM_047425276.1 → XP_047281232.1  calcium homeostasis modulator protein 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    104334092..104339676 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366003.1 → XP_054221978.1  calcium homeostasis modulator protein 2 isoform X2

  2. XM_054365990.1 → XP_054221965.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  3. XM_054366000.1 → XP_054221975.1  calcium homeostasis modulator protein 2 isoform X2

  4. XM_054365987.1 → XP_054221962.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  5. XM_054366001.1 → XP_054221976.1  calcium homeostasis modulator protein 2 isoform X2

  6. XM_054365988.1 → XP_054221963.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  7. XM_054365997.1 → XP_054221972.1  calcium homeostasis modulator protein 2 isoform X2

  8. XM_054365982.1 → XP_054221957.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  9. XM_054365996.1 → XP_054221971.1  calcium homeostasis modulator protein 2 isoform X2

  10. XM_054365981.1 → XP_054221956.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  11. XM_054366002.1 → XP_054221977.1  calcium homeostasis modulator protein 2 isoform X2

  12. XM_054365989.1 → XP_054221964.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  13. XM_054365999.1 → XP_054221974.1  calcium homeostasis modulator protein 2 isoform X2

  14. XM_054365984.1 → XP_054221959.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  15. XM_054365991.1 → XP_054221966.1  calcium homeostasis modulator protein 2 isoform X2

  16. XM_054365983.1 → XP_054221958.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  17. XM_054365993.1 → XP_054221968.1  calcium homeostasis modulator protein 2 isoform X2

  18. XM_054365978.1 → XP_054221953.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  19. XM_054365998.1 → XP_054221973.1  calcium homeostasis modulator protein 2 isoform X2

  20. XM_054365986.1 → XP_054221961.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  21. XM_054365994.1 → XP_054221969.1  calcium homeostasis modulator protein 2 isoform X2

  22. XM_054365980.1 → XP_054221955.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  23. XM_054365992.1 → XP_054221967.1  calcium homeostasis modulator protein 2 isoform X2

  24. XM_054365977.1 → XP_054221952.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  25. XM_054365985.1 → XP_054221960.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  26. XM_054365979.1 → XP_054221954.1  calcium homeostasis modulator protein 2 isoform X1

    UniProtKB/Swiss-Prot
    D3DR94, O95893, Q6ZUV9, Q9HA72

  27. XM_054365995.1 → XP_054221970.1  calcium homeostasis modulator protein 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HA72.1 GenPept UniProtKB/Swiss-Prot:Q9HA72

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