Aliases for CALHM3 Gene

Aliases for CALHM3 Gene

  • Calcium Homeostasis Modulator 3 2 3 5
  • Family With Sequence Similarity 26, Member A 2 3
  • Calcium Homeostasis Modulator Protein 3 3 4
  • FAM26A 3 4
  • Protein FAM26A 4
  • BA225H22.7 3

External Ids for CALHM3 Gene

Previous HGNC Symbols for CALHM3 Gene

  • FAM26A

Previous GeneCards Identifiers for CALHM3 Gene

  • GC10M105223
  • GC10M098863

Summaries for CALHM3 Gene

GeneCards Summary for CALHM3 Gene

CALHM3 (Calcium Homeostasis Modulator 3) is a Protein Coding gene. Diseases associated with CALHM3 include Leber Congenital Amaurosis 2. Gene Ontology (GO) annotations related to this gene include cation channel activity. An important paralog of this gene is CALHM1.

UniProtKB/Swiss-Prot Summary for CALHM3 Gene

Additional gene information for CALHM3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CALHM3 Gene

Genomics for CALHM3 Gene

GeneHancer (GH) Regulatory Elements for CALHM3 Gene

Promoters and enhancers for CALHM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J103479 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 500.7 -1.5 -1464 3.8 CTCF UBTF REST KLF4 MYC RAD21 EP300 SKI TRIM22 GATAD2B CALHM3 AS3MT CALHM2 NEURL1 NEURL1-AS1
GH10J103490 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 0.4 -13.5 -13476 4.6 EP300 USF1 SP1 JUND FOS ZNF639 ZIC2 ZBTB10 ZNF423 ZBTB26 NEURL1 PCGF6 CALHM1 NEURL1-AS1 PDCD11 BORCS7 CALHM3
GH10J103476 Enhancer 0.9 Ensembl ENCODE 0.7 +2.5 2539 1.8 CTCF USF1 ZIC2 REST RAD21 TRIM22 POLR2A ZNF341 RELA TCF12 NEURL1-AS1 CALHM2 AS3MT MARCKSL1P1 CALHM3 CALHM1
GH10J103470 Enhancer 1.1 FANTOM5 ENCODE 0.4 +7.3 7307 3.1 SP1 JUND EP300 RUNX1 CTBP1 POLR2A BCL11A RELA TCF12 NFIC NEURL1 AS3MT NEURL1-AS1 CALHM2 RNU11-3P NT5C2 CALHM3 CALHM1
GH10J103485 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.4 -6.8 -6752 1.4 CTCF ZNF639 ZBTB10 REST RAD21 TRIM22 SMC3 ARNT KLF13 NBN NEURL1-AS1 AS3MT CALHM2 CALHM3 NEURL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CALHM3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CALHM3

Top Transcription factor binding sites by QIAGEN in the CALHM3 gene promoter:
  • AhR
  • AML1a
  • CREB
  • deltaCREB
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • RSRFC4
  • TGIF
  • YY1

Genomic Locations for CALHM3 Gene

Genomic Locations for CALHM3 Gene
chr10:103,472,804-103,479,240
(GRCh38/hg38)
Size:
6,437 bases
Orientation:
Minus strand
chr10:105,232,561-105,238,997
(GRCh37/hg19)
Size:
6,437 bases
Orientation:
Minus strand

Genomic View for CALHM3 Gene

Genes around CALHM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALHM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALHM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CALHM3 Gene

Proteins for CALHM3 Gene

  • Protein details for CALHM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XJ0-CAHM3_HUMAN
    Recommended name:
    Calcium homeostasis modulator protein 3
    Protein Accession:
    Q86XJ0
    Secondary Accessions:
    • Q5W090
    • Q8IXR2

    Protein attributes for CALHM3 Gene

    Size:
    344 amino acids
    Molecular mass:
    38496 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CALHM3 Gene

Post-translational modifications for CALHM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CALHM3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CALHM3 Gene

Domains & Families for CALHM3 Gene

Gene Families for CALHM3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for CALHM3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CALHM3 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM26A (CAHM3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XJ0

UniProtKB/Swiss-Prot:

CAHM3_HUMAN :
  • Belongs to the CALHM family.
Family:
  • Belongs to the CALHM family.
genes like me logo Genes that share domains with CALHM3: view

Function for CALHM3 Gene

Molecular function for CALHM3 Gene

UniProtKB/Swiss-Prot Function:
Pore-forming subunit of a voltage-gated ion channel.

Phenotypes From GWAS Catalog for CALHM3 Gene

Gene Ontology (GO) - Molecular Function for CALHM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 30126976
genes like me logo Genes that share ontologies with CALHM3: view
genes like me logo Genes that share phenotypes with CALHM3: view

miRNA for CALHM3 Gene

miRTarBase miRNAs that target CALHM3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CALHM3 Gene

Localization for CALHM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CALHM3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CALHM3 gene
Compartment Confidence
plasma membrane 4
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CALHM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CALHM3: view

Pathways & Interactions for CALHM3 Gene

PathCards logo

SuperPathways for CALHM3 Gene

No Data Available

Interacting Proteins for CALHM3 Gene

Selected Interacting proteins: Q86XJ0-CAHM3_HUMAN for CALHM3 Gene via UniProtKB

Symbol External ID(s) Details
DLG1
;

Gene Ontology (GO) - Biological Process for CALHM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with CALHM3: view

No data available for Pathways by source and SIGNOR curated interactions for CALHM3 Gene

Drugs & Compounds for CALHM3 Gene

No Compound Related Data Available

Transcripts for CALHM3 Gene

mRNA/cDNA for CALHM3 Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CALHM3 Gene

No ASD Table

Relevant External Links for CALHM3 Gene

GeneLoc Exon Structure for
CALHM3

Expression for CALHM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CALHM3 Gene

mRNA differential expression in normal tissues according to GTEx for CALHM3 Gene

This gene is overexpressed in Testis (x6.4) and Pancreas (x5.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CALHM3

SOURCE GeneReport for Unigene cluster for CALHM3 Gene:

Hs.364624

mRNA Expression by UniProt/SwissProt for CALHM3 Gene:

Q86XJ0-CAHM3_HUMAN
Tissue specificity: Specifically expressed in circumvallate taste bud cells.
genes like me logo Genes that share expression patterns with CALHM3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CALHM3 Gene

Orthologs for CALHM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CALHM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CALHM3 31 30
  • 99.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CALHM3 31 30
  • 88.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CALHM3 31 30
  • 87.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Calhm3 31
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Calhm3 30
  • 82.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CALHM3 31
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CALHM3 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves CALHM3 31 30
  • 67.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CALHM3 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489522 30
  • 64.63 (n)
zebrafish
(Danio rerio)
Actinopterygii calhm3 31 30
  • 56.47 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea clhm-1 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 12 (a)
OneToMany
Species where no ortholog for CALHM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CALHM3 Gene

ENSEMBL:
Gene Tree for CALHM3 (if available)
TreeFam:
Gene Tree for CALHM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CALHM3: view image

Paralogs for CALHM3 Gene

Paralogs for CALHM3 Gene

(2) SIMAP similar genes for CALHM3 Gene using alignment to 1 proteins:

  • CAHM3_HUMAN
genes like me logo Genes that share paralogs with CALHM3: view

Variants for CALHM3 Gene

Additional dbSNP identifiers (rs#s) for CALHM3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CALHM3 Gene

Variant ID Type Subtype PubMed ID
dgv966n100 CNV gain 25217958
esv3577694 CNV gain 25503493
nsv518987 CNV loss 19592680
nsv524966 CNV loss 19592680

Variation tolerance for CALHM3 Gene

Gene Damage Index Score: 7.29; 81.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CALHM3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CALHM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CALHM3 Gene

Disorders for CALHM3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CALHM3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leber congenital amaurosis 2
  • lca2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CALHM3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CALHM3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CALHM3 Gene

Publications for CALHM3 Gene

  1. A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. (PMID: 18585350) Dreses-Werringloer U … Marambaud P (Cell 2008) 2 3 4 54
  2. Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population. (PMID: 20164573) Shibata N … Arai H (Journal of Alzheimer's disease : JAD 2010) 3 41 54
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54

Products for CALHM3 Gene

Sources for CALHM3 Gene