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

    Gene ID: 51063, updated on 3-May-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
    mouse all
    NEW
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    Genomic context

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    See CALHM2 in Genome Data Viewer
    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 ATP export IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion import ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 
    involved_in regulation of microglial cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    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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    NEW Try the new Transcript table

    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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