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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CALHM1 Gene

protein-coding   GIFtS: 47
GCID: GC10M105213

Calcium Homeostasis Modulator 1

(Previous names: family with sequence similarity 26, member C)
(Previous symbol: FAM26C)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Calcium Homeostasis Modulator 11 2
FAM26C1 2 3 5
Family With Sequence Similarity 26, Member C1 2
Calcium Homeostasis Modulator Protein 12
Protein FAM26C3

External Ids:    HGNC: 234941   Entrez Gene: 2550222   Ensembl: ENSG000001859337   OMIM: 6122345   UniProtKB: Q8IU993   

Export aliases for CALHM1 gene to outside databases

Previous GC identifers: GC10M105204 GC10M098843


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CALHM1 Gene:
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 pathogenicity of this polymorphism is unclear.(provided by RefSeq, Mar 2010)

GeneCards Summary for CALHM1 Gene: 
CALHM1 (calcium homeostasis modulator 1) is a protein-coding gene. Diseases associated with CALHM1 include temporal lobe epilepsy, and alzheimer's disease. GO annotations related to this gene include calcium channel activity and identical protein binding. An important paralog of this gene is CALHM3.

UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99
Function: Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and
umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and
umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate
afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates
neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and
forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation
of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by
reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP)
proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CALHM1 gene promoter:
         GR   Pax-5   GR-beta   HNF-4alpha2   NF-kappaB   LCR-F1   HNF-4alpha1   YY1   HEN1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCALHM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CALHM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CALHM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.33   Ensembl cytogenetic band:  10q24.33   HGNC cytogenetic band: 10q24.33

CALHM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CALHM1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M105213:  view genomic region     (about GC identifiers)

Start:
105,213,144 bp from pter      End:
105,218,648 bp from pter
Size:
5,505 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99 (See protein sequence)
Recommended Name: Calcium homeostasis modulator protein 1  
Size: 346 amino acids; 38264 Da
Subunit: Homohexamer
Subcellular location: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass
membrane protein. Note=Colocalizes with HSPA5 at the endoplasmic reticulum
Secondary accessions: Q5W091

Explore the universe of human proteins at neXtProt for CALHM1: NX_Q8IU99

Explore proteomics data for CALHM1 at MOPED 

CALHM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CALHM1 Protein Expression

REFSEQ proteins: NP_001001412.3  
ENSEMBL proteins: 
 ENSP00000329926  

Human Recombinant Protein Products for CALHM1: 
Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate for CALHM1
OriGene Custom MassSpec 
OriGene Custom Protein Services for CALHM1
GenScript Custom Purified and Recombinant Proteins Services for CALHM1
Novus Biologicals CALHM1 Proteins
Novus Biologicals CALHM1 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for CALHM1 

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005789endoplasmic reticulum membrane IEA--
GO:0005887integral to plasma membrane IDA--

CALHM1 for ontologies           About GeneDecksing



CALHM1 Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of CALHM1
Browse R&D Systems for Antibodies
OriGene Antibodies for CALHM1
OriGene Custom Antibody Services for CALHM1
GenScript Custom Superior Antibodies Services for CALHM1
Novus Biologicals CALHM1 Antibodies
Abcam antibodies for CALHM1
Cloud-Clone Corp. Antibodies for CALHM1 
ThermoFisher Antibodies for CALHM1
LSBio Antibodies in human, mouse, rat for CALHM1 

Assay Products for CALHM1: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for CALHM1
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for CALHM1
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for CALHM1 
Cloud-Clone Corp. CLIAs for CALHM1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q8IU99

UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99
Similarity: Belongs to the FAM26 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: CAHM1_HUMAN, Q8IU99
Function: Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and
umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and
umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate
afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates
neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and
forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation
of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by
reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP)
proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner
Enzyme regulation: Inhibited by Gd(3+), Ruthenium Red, and Zn(2+) and partially inhibited by 2-aminoethoxydiphenyl
borate

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005227calcium activated cation channel activity IDA--
GO:0005244voltage-gated ion channel activity IDA--
GO:0005262calcium channel activity IEA--
GO:0042802identical protein binding IPI18585350
     
CALHM1 for ontologies           About GeneDecksing


Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Calhm1):
 nervous system 

CALHM1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Calhm1tm1Geno for CALHM1

   inGenious Targeting Laboratory - Custom generated mouse model solutions for CALHM1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CALHM1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CALHM1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CALHM1 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CALHM1
5 QIAGEN miScript miRNA Assays for microRNAs that regulate CALHM1:
hsa-miR-200c hsa-miR-3150b-3p hsa-miR-429 hsa-miR-29a* hsa-miR-200b
SwitchGear 3'UTR luciferase reporter plasmidCALHM1 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for CALHM1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CALHM1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for CALHM1
Sirion Biotech Customized adenovirus for overexpression of CALHM1

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for CALHM1 (see all 6)
OriGene ORF clones in mouse, rat for CALHM1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: CALHM1 (NM_001001412)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CALHM1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALHM1
Sirion Biotech Customized lentivirus for stable overexpression of CALHM1 
                     Customized lentivirus expression plasmids for stable overexpression of CALHM1 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for CALHM1
Search LifeMap BioReagents cell lines for CALHM1
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALHM1


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CALHM1

1 Interacting protein for CALHM1 (Q8IU991) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CALHM1Q8IU991EBI-1790341,EBI-1790341
About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006812cation transport IDA--
GO:0015867ATP transport ISS--
GO:0034765regulation of ion transmembrane transport IDA--
GO:0050913sensory perception of bitter taste ISS--
GO:0050916sensory perception of sweet taste ISS--

CALHM1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CALHM1 (CAHM1)

Search CenterWatch for drugs/clinical trials and news about CALHM1 / CAHM1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CALHM1 gene: 
NM_001001412.3  

Unigene Cluster for CALHM1:

Calcium homeostasis modulator 1
Hs.680365  [show with all ESTs]
Unigene Representative Sequence: BC036208
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000329905(uc001kxe.2)

miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CALHM1
5 QIAGEN miScript miRNA Assays for microRNAs that regulate CALHM1:
hsa-miR-200c hsa-miR-3150b-3p hsa-miR-429 hsa-miR-29a* hsa-miR-200b
SwitchGear 3'UTR luciferase reporter plasmidCALHM1 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for CALHM1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CALHM1
Clone
Products:
     
OriGene clones in human, mouse for CALHM1 (see all 6)
OriGene ORF clones in mouse, rat for CALHM1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: CALHM1 (NM_001001412)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CALHM1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALHM1
Sirion Biotech Customized lentivirus for stable overexpression of CALHM1 
                     Customized lentivirus expression plasmids for stable overexpression of CALHM1 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for CALHM1
OriGene qSTAR qPCR primer pairs in human, mouse for CALHM1
Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat CALHM1
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CALHM1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CALHM1

Additional mRNA sequence: 

BC036193.1 BC036208.1 

1 DOTS entry:

DT.100010260 

5 AceView cDNA sequences:

BC036193 BC036208 NM_001001412 BI546641 BI546543 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CALHM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATTCCATCCT
CALHM1 Expression
About this image


See CALHM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CALHM1

SOURCE GeneReport for Unigene cluster: Hs.680365

UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99
Tissue specificity: Predominantly expressed in adult brain. Detected also in retinoic acid-differentiated SH-SY5Y
cells. Specifically expressed in circumvallate taste bud cells

    SABiosciences Custom PCR Arrays for CALHM1
Primer
Products:
OriGene qPCR primer pairs and template standards for CALHM1
OriGene qSTAR qPCR primer pairs in human, mouse for CALHM1
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CALHM1
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CALHM1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALHM1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CALHM1 gene from 5/12 species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Calhm11 , 5 calcium homeostasis modulator 11, 5 85.85(n)1
93.02(a)1
  19 (39.36 cM)5
5467291  NM_001081271.11  NP_001074740.11 
 471410355 
chicken
(Gallus gallus)
Aves CALHM11 calcium homeostasis modulator 1 74.27(n)
72.97(a)
  428977  XM_426534.2  XP_426534.2 
lizard
(Anolis carolinensis)
Reptilia CALHM16
Uncharacterized protein
74(a)
1 ↔ 1
3(40725917-40729283)
zebrafish
(Danio rerio)
Actinopterygii calhm11 calcium homeostasis modulator 1 61.16(n)
58.41(a)
  100005176  XM_001344258.1  XP_001344294.1 
worm
(Caenorhabditis elegans)
Secernentea clhm-16
Protein CLHM-1
17(a)
1 → many
II(6868942-6870839)


ENSEMBL Gene Tree for CALHM1 (if available)
TreeFam Gene Tree for CALHM1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CALHM1 gene
CALHM32  FAM26D2  FAM26F2  FAM26E2  CALHM22  
2 SIMAP similar genes for CALHM1 using alignment to 1 protein entry:     CAHM1_HUMAN:
CALHM3    CALHM2

CALHM1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99
Polymorphism: Leu-86 causes a dysregulation of Ca(2+) homeostasis and amyloid precursor protein (APP) metabolism
and has been suggested to be a risk factor for the development of Alzheimer disease (PubMed:18585350,
PubMed:20061624, PubMed:20164592). However, this association with Alzheimer disease could not be confirmed in a
number of studies performed in different populations (PubMed:19472444, PubMed:19070563, PubMed:19191331,
PubMed:19191332, PubMed:19545933, PubMed:19655363, PubMed:21378601). According to a meta-analysis study, Leu-86
is likely not a genetic determinant of Alzheimer disease but may modulate age of onset by interacting with the
effect of the APOE*4 allele of the APOE gene (PubMed:20847397)


10/208 SNPs in CALHM1 are shown (see all 208)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs30141801,2
C,F,A,H--98843954(+) TTCTTA/CTTATT 1 -- ut31 trp39Minor allele frequency- C:0.21EA NS WA NA CSA 780
rs1925249591,2
--98843968(+) ATTATC/TACTTT 1 -- ut310--------
rs1124771141,2
C--105213177(+) TCTTCTTA/-TTCTT 1 -- cds11Minor allele frequency- -:0.50CSA 2
rs1879301171,2
--105574787(+) ACCAAA/GTTCTG 1 -- ds50010--------
rs744615401,2
F--105574951(+) TCTTTA/CTTCTT 1 -- ut312Minor allele frequency- C:0.04WA NA 238
rs106474141,2
C--105574960(+) TCTTC-/TTATTCTT 1 -- cds1 trp30--------
rs1826448571,2
--105575262(+) CCTCCA/GGGCCT 1 -- ut310--------
rs1394345161,2
C--105575553(+) GAGGGC/TGGTGC 1 -- ut310--------
rs111916921,2
C,F,H--105575554(+) AGGGCG/AGTGCT 1 -- ut3120Minor allele frequency- A:0.27NA NS EA 2364
rs1881137401,2
--105575601(+) AGATGC/GAAGCT 1 -- ut310--------

HapMap Linkage Disequilibrium report for CALHM1 (105213144 - 105218648 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for CALHM1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv524966CNV Loss19592680
nsv437692CNV Loss16327808
nsv518987CNV Loss19592680


Human Gene Mutation Database (HGMD): CALHM1
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing CALHM1
DNA2.0 Custom Variant and Variant Library Synthesis for CALHM1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 612234    OMIM disorders: --

3 diseases for CALHM1:    About MalaCards
temporal lobe epilepsy    alzheimer's disease    dementia

1 disease from the University of Copenhagen DISEASES database for CALHM1:
Alzheimer's disease

CALHM1 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): CALHM1
Human Genome Epidemiology (HuGE) Navigator: CALHM1 (16 documents)

Export disorders for CALHM1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for CALHM1 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with CALHM1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. CALHM1 P86L polymorphism is a risk factor for Alzheim er's disease in the Chinese population. (PubMed id 20061624)1, 2, 4 Cui P.J....Chen S.D. (2010)
  2. The P86L common allele of CALHM1 does not influence r isk for Alzheimer disease in Japanese cohorts. (PubMed id 19655363)1, 2, 4 Inoue K....Goto Y. (2010)
  3. CALHM1 variant is not associated with Alzheimer's dis ease among Asians. (PubMed id 19545933)1, 2, 4 Tan E.K....Zhao Y. (2009)
  4. No association between CALHM1 variation and risk of Alzheimer disease. (PubMed id 19191331)1, 2, 4 Minster R.L....Kamboh M.I. (2009)
  5. CALHM1 polymorphism is not associated with late-onset Alzheimer disease. (PubMed id 19472444)1, 2, 4 Beecham G.W....Pericak-Vance M.A. (2009)
  6. No association between CALHM1 and risk for Alzheimer dementia in a Belgian population. (PubMed id 19191332)1, 2, 4 Sleegers K....Van Broeckhoven C. (2009)
  7. A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. (PubMed id 18585350)1, 2, 3 Dreses-Werringloer U....Marambaud P. (2008)
  8. Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins. (PubMed id 23300080)1, 2 Siebert A.P.... Foskett J.K. (2013)
  9. No association between CALHM1 polymorphism and Alzheim er's disease risk in a Hungarian population. (PubMed id 21378601)1, 2 Feher A....Janka Z. (2011)
  10. Calcium homoeostasis modulator 1 (CALHM1) reduces the calcium content of the endoplasmic reticulum (ER) and triggers ER stress. (PubMed id 21574960)1, 2 Gallego-SandA-n S....GarcA-a-Sancho J. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 255022 HGNC: 23494 AceView: FAM26C Ensembl:ENSG00000185933 euGenes: HUgn255022
ECgene: CALHM1 H-InvDB: CALHM1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CALHM1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CALHM1 gene:
Search GeneIP for patents involving CALHM1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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