Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
813
Gene name Gene Name - the full gene name approved by the HGNC.
Calumenin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CALU
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
Summary Summary of gene provided in NCBI Entrez 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 ret
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs339097 A>G Drug-response Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019978 hsa-miR-375 Microarray 20215506
MIRT021030 hsa-miR-155-5p Proteomics 18668040
MIRT021863 hsa-miR-132-3p Microarray 17612493
MIRT023190 hsa-miR-124-3p Microarray 18668037
MIRT023336 hsa-miR-122-5p Proteomics 21750653
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005509 Function Calcium ion binding IDA 10094503
GO:0005515 Function Protein binding IPI 18688696, 25416956
GO:0005576 Component Extracellular region IEA
GO:0005783 Component Endoplasmic reticulum IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603420 1458 ENSG00000128595
Protein
UniProt ID O43852
Protein name Calumenin (Crocalbin) (IEF SSP 9302)
Protein 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).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 265 294 EF-hand domain pair Domain
Tissue specificity 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.
Sequence
MDLRQFLMCLSLCTAFALSKPTEKKDRVHHEPQLSDKVHNDAQSFDYDHDAFLGAEEAKT
FDQLTPEESKERLGKIVSKIDGDKDGFVTVDELKDWIKFAQKRWIYEDVERQWKGHDLNE
DGLVSWEEYKNATYGYVLDDPDPDDGFNYKQMMVRDERRFKMADKDGDLIATKEEFTAFL
HPEEYDYMKDIVVQETMEDIDKNADGFIDLEEYIGDMYSHDGNTDEPEWVKTEREQFVEF
RDKNRDGKMDKEETKDWILPSDYDHAEAEARHLVYESDQNKDGKLTKEEIVDKYDLFVGS
QATDFGEALVRHDEF
Sequence length 315
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
30061737
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 30061737 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Atherosclerosis Associate 14630798
Barrett Esophagus Associate 33491460
Carcinoma Hepatocellular Associate 37960718
Colonic Diseases Associate 32469983
Colorectal Neoplasms Associate 18776587, 32422974
Cystic Fibrosis Associate 25120007
Endometrial Neoplasms Associate 21305022
Glioma Associate 39533401
Inflammation Associate 37443777
Lung Neoplasms Associate 32469983