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Aliases for CALU Gene

Aliases for CALU Gene

  • Calumenin 2 3 3 5
  • IEF SSP 9302 3 4
  • Multiple EF-Hand Protein 3
  • Crocalbin-Like Protein 3
  • Crocalbin 4

External Ids for CALU Gene

Previous GeneCards Identifiers for CALU Gene

  • GC07P126856
  • GC07P127919
  • GC07P127933
  • GC07P127973
  • GC07P128166
  • GC07P128380
  • GC07P122740
  • GC07P128381
  • GC07P128438
  • GC07P128497

Summaries for CALU Gene

Entrez Gene Summary for CALU Gene

  • The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

GeneCards Summary for CALU Gene

CALU (Calumenin) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and NOTCH1 regulation of human endothelial cell calcification. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is RCN1.

UniProtKB/Swiss-Prot for CALU Gene

  • Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues. Seems to inhibit gamma-carboxylase GGCX. Binds 7 calcium ions with a low affinity (By similarity).

Gene Wiki entry for CALU Gene

Additional gene information for CALU Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALU Gene

Genomics for CALU Gene

GeneHancer (GH) Regulatory Elements for CALU Gene

Promoters and enhancers for CALU 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
GH07I128737 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 565.3 +1.4 1411 6.6 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CALU ENSG00000243302 ENSG00000230715 ENSG00000243679 ENSG00000242588 TNPO3 RPS10P15 ENSG00000229413 CDC26P1 OPN1SW
GH07I128744 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.4 +5.1 5071 0.1 CALU OPN1SW IMP3P2 FAM71F2 ENSG00000241493 CCDC136 FAM71F1 RN7SL81P
GH07I128826 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 +93.1 93143 11.9 HDGF PKNOX1 SMAD1 FOXA2 ARNT SIN3A POLR2B E2F8 FOS ZNF263 FLNC ENSG00000243679 ENSG00000230715 ENSG00000243302 ENSG00000229413 ENSG00000242588 TNPO3 CCDC136 LOC392787 ATP6V1F
GH07I128754 Enhancer 0.8 ENCODE dbSUPER 12.2 +16.7 16667 3.2 ZNF362 ZSCAN4 ZNF316 JUND POLR2B POLR2A FOXP2 FOS RCOR1 OPN1SW CALU CCDC136 IMP3P2 FAM71F2 ENSG00000241493 FLNC FAM71F1 RN7SL81P
GH07I128715 Promoter 0.8 EPDnew 11.3 -23.9 -23920 0.1 MEIS2 IKZF1 ATF7 ATF2 SPI1 FAM71F1 IMP3P2 FAM71F2 ENSG00000241493 CALU CCDC136 GC07M128710
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CALU on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CALU gene promoter:

Genomic Locations for CALU Gene

Genomic Locations for CALU Gene
chr7:128,739,292-128,773,423
(GRCh38/hg38)
Size:
34,132 bases
Orientation:
Plus strand
chr7:128,379,346-128,413,477
(GRCh37/hg19)

Genomic View for CALU Gene

Genes around CALU on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CALU Gene

Proteins for CALU Gene

neXtProt entry for CALU Gene

Post-translational modifications for CALU Gene

  • Ubiquitination at Lys84, posLast=9494, Lys98, posLast=114114, Lys255, and posLast=9494
  • Glycosylation at posLast=6060, Asn131, and Ser261
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CALU Gene

Domains & Families for CALU Gene

Gene Families for CALU Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CALU Gene

Graphical View of Domain Structure for InterPro Entry

O43852

UniProtKB/Swiss-Prot:

CALU_HUMAN :
  • Belongs to the CREC family.
Family:
  • Belongs to the CREC family.
genes like me logo Genes that share domains with CALU: view

Function for CALU Gene

Molecular function for CALU Gene

GENATLAS Biochemistry:
calumenin CA++ binding proteins in the ER and Golgi apparatus,EF hand subfamily,ubiquitously expressed (heart,placenta,skeletal muscle)
UniProtKB/Swiss-Prot Function:
Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues. Seems to inhibit gamma-carboxylase GGCX. Binds 7 calcium ions with a low affinity (By similarity).

Phenotypes From GWAS Catalog for CALU Gene

Gene Ontology (GO) - Molecular Function for CALU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 10094503
GO:0005515 protein binding IPI 18688696
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CALU: view
genes like me logo Genes that share phenotypes with CALU: view

Animal Model Products

CRISPR Products

miRNA for CALU Gene

miRTarBase miRNAs that target CALU

Inhibitory RNA Products

Clone Products

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

Localization for CALU Gene

Subcellular locations from UniProtKB/Swiss-Prot for CALU Gene

Endoplasmic reticulum membrane. Golgi apparatus. Secreted. Melanosome. Sarcoplasmic reticulum lumen. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:12643545}.

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 CALU gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
extracellular 4
cytoskeleton 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CALU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus TAS,IEA --
genes like me logo Genes that share ontologies with CALU: view

Pathways & Interactions for CALU Gene

genes like me logo Genes that share pathways with CALU: view

Pathways by source for CALU Gene

Gene Ontology (GO) - Biological Process for CALU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with CALU: view

No data available for SIGNOR curated interactions for CALU Gene

Drugs & Compounds for CALU Gene

(2) Drugs for CALU Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Warfarin Approved Pharma 505
calcium Approved Nutra 0
genes like me logo Genes that share compounds with CALU: view

Transcripts for CALU Gene

Unigene Clusters for CALU Gene

Calumenin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - -
SP8: - -
SP9: - - - - - - - -
SP10: - - - - - - -
SP11: - - -
SP12:
SP13: - -

Relevant External Links for CALU Gene

GeneLoc Exon Structure for
CALU
ECgene alternative splicing isoforms for
CALU

Expression for CALU Gene

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

Protein differential expression in normal tissues from HIPED for CALU Gene

This gene is overexpressed in Bone marrow stromal cell (20.7), Amniocyte (15.3), and Oral epithelium (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CALU Gene



Protein tissue co-expression partners for CALU Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CALU Gene:

CALU

SOURCE GeneReport for Unigene cluster for CALU Gene:

Hs.743262

mRNA Expression by UniProt/SwissProt for CALU Gene:

O43852-CALU_HUMAN
Tissue specificity: Ubiquitously expressed. Expressed at high levels in heart, placenta and skeletal muscle, at lower levels in lung, kidney and pancreas and at very low levels in brain and liver.

Evidence on tissue expression from TISSUES for CALU Gene

  • Nervous system(5)
  • Skin(4.9)
  • Liver(4.5)
  • Lung(4.5)
  • Blood(4.3)
  • Kidney(4.3)
  • Heart(3.2)
  • Intestine(2.8)
  • Muscle(2.6)
  • Bone(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with CALU: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CALU Gene

Orthologs for CALU Gene

This gene was present in the common ancestor of animals.

Orthologs for CALU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CALU 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia CALU 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CALU 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CALU 33 34
  • 89.42 (n)
cow
(Bos Taurus)
Mammalia CALU 33 34
  • 88.68 (n)
mouse
(Mus musculus)
Mammalia Calu 33 16 34
  • 87.94 (n)
rat
(Rattus norvegicus)
Mammalia Calu 33
  • 86.24 (n)
lizard
(Anolis carolinensis)
Reptilia CALU 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia calu 33
  • 79.05 (n)
Str.11110 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33451 33
zebrafish
(Danio rerio)
Actinopterygii calua 33 34
  • 73.02 (n)
zgc63741 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.458 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010392 33
  • 59.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta scf 35 33 34
  • 57.1 (n)
CG9112 35
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea calu-1 33 34
  • 54 (n)
M03F4.7 35
  • 50 (a)
F08B6.3 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
ManyToMany
CSA.6945 34
  • 47 (a)
ManyToMany
-- 34
  • 46 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10829 33
Species where no ortholog for CALU was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • 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 CALU Gene

ENSEMBL:
Gene Tree for CALU (if available)
TreeFam:
Gene Tree for CALU (if available)

Paralogs for CALU Gene

Paralogs for CALU Gene

(3) SIMAP similar genes for CALU Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CALU: view

Variants for CALU Gene

Sequence variations from dbSNP and Humsavar for CALU Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs104894033 pathogenic, Tritanopia 128,773,786(+) G/A downstream_transcript_variant
rs339097 drug-response, warfarin response - Dosage 128,759,170(+) A/G intron_variant
rs1000052259 -- 128,756,839(+) G/A intron_variant
rs1000137861 -- 128,762,596(+) G/A intron_variant
rs1000144053 -- 128,751,892(+) C/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv2670312 CNV deletion 23128226
esv2735137 CNV deletion 23290073
esv3614987 CNV loss 21293372
nsv831125 CNV loss 17160897

Variation tolerance for CALU Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.77; 83.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CALU Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CALU Gene

Disorders for CALU Gene

Additional Disease Information for CALU

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CALU Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CALU Gene

Publications for CALU Gene

  1. Human calumenin gene (CALU): cDNA isolation and chromosomal mapping to 7q32. (PMID: 9598325) Yabe D … Honjo T (Genomics 1998) 2 3 4 22 58
  2. Genetic determinants of acenocoumarol and phenprocoumon maintenance dose requirements. (PMID: 20020283) Cadamuro J … Oberkofler H (European journal of clinical pharmacology 2010) 3 22 44 58
  3. Genetic determinants of warfarin dosing in the Han-Chinese population. (PMID: 19958090) Lee MT … Chen YT (Pharmacogenomics 2009) 3 22 44 58
  4. Association of warfarin dose with genes involved in its action and metabolism. (PMID: 17048007) Wadelius M … Deloukas P (Human genetics 2007) 3 22 44 58
  5. Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients. (PMID: 17049586) Kimura R … Miyata T (Thrombosis research 2007) 3 22 44 58

Products for CALU Gene

Sources for CALU Gene

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