Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008] See more...

Aliases for CLGN Gene

Aliases for CLGN Gene

  • Calmegin 2 3 4 5
  • Testis Tissue Sperm-Binding Protein Li 79P 3
  • CLGN 5

External Ids for CLGN Gene

Previous GeneCards Identifiers for CLGN Gene

  • GC04M142172
  • GC04M141626
  • GC04M141775
  • GC04M141887
  • GC04M141667
  • GC04M141529
  • GC04M141309
  • GC04M137040

Summaries for CLGN Gene

Entrez Gene Summary for CLGN Gene

  • Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008]

GeneCards Summary for CLGN Gene

CLGN (Calmegin) is a Protein Coding gene. Diseases associated with CLGN include Colloid Adenoma and Carotid Artery Dissection. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein binding involved in protein folding. An important paralog of this gene is CANX.

UniProtKB/Swiss-Prot Summary for CLGN Gene

  • Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions (By similarity).

Gene Wiki entry for CLGN Gene

Additional gene information for CLGN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLGN Gene

Genomics for CLGN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLGN 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
GH04J140426 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 618.2 +0.4 361 2.2 CEBPG GATAD2A CTCF TEAD4 PRDM10 REST LEF1 KDM1A ZNF692 PRDM1 CLGN ELMOD2 SCOC-AS1 SCOC
GH04J140372 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 19.5 +54.0 53960 3 CEBPG SP1 HNRNPL CREB1 PRDM10 REST IKZF1 KDM1A FOS DDX20 SCOC-AS1 SCOC CLGN UCP1
GH04J140523 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 18 -96.8 -96840 2.2 SP1 GATAD2A CTCF PRDM10 ZNF629 RFX1 POLR2A RCOR2 BACH1 FOXA1 ELMOD2 NONHSAG038968.2 MAML3 CLGN UCP1
GH04J140529 Enhancer 1.1 Ensembl ENCODE 18.1 -102.0 -102022 1 GATAD2A TFE3 LEF1 IKZF1 JUND MTA2 PKNOX1 RXRB MTA1 REST CLGN UCP1 ELMOD2 NONHSAG038968.2
GH04J140556 Enhancer 0.9 Ensembl ENCODE 21.9 -129.9 -129940 3.2 SP1 BACH1 RELA IKZF2 PKNOX1 SCRT2 EED ARID3A RELB RUNX3 CLGN UCP1 NONHSAG038968.2 ELMOD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLGN on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the CLGN gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • c-Myb
  • FOXO1
  • FOXO1a
  • FOXO4

Genomic Locations for CLGN Gene

Genomic Locations for CLGN Gene
chr4:140,388,453-140,427,661
(GRCh38/hg38)
Size:
39,209 bases
Orientation:
Minus strand
chr4:141,309,607-141,349,122
(GRCh37/hg19)
Size:
39,516 bases
Orientation:
Minus strand

Genomic View for CLGN Gene

Genes around CLGN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CLGN Gene

Proteins for CLGN Gene

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

    Protein Symbol:
    O14967-CLGN_HUMAN
    Recommended name:
    Calmegin
    Protein Accession:
    O14967
    Secondary Accessions:
    • B3KS90
    • B4DXV8
    • D3DNY8

    Protein attributes for CLGN Gene

    Size:
    610 amino acids
    Molecular mass:
    70039 Da
    Quaternary structure:
    • Interacts with PPIB. Interacts with ADAM2 (By similarity). Interacts with PDILT.

    Alternative splice isoforms for CLGN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLGN Gene

Post-translational modifications for CLGN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLGN Gene

No data available for DME Specific Peptides for CLGN Gene

Domains & Families for CLGN Gene

Gene Families for CLGN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CLGN Gene

Suggested Antigen Peptide Sequences for CLGN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55357, highly similar to Calmegin (B4DRG2_HUMAN)
  • Calmegin (CLGN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14967

UniProtKB/Swiss-Prot:

CLGN_HUMAN :
  • Belongs to the calreticulin family.
Family:
  • Belongs to the calreticulin family.
genes like me logo Genes that share domains with CLGN: view

Function for CLGN Gene

Molecular function for CLGN Gene

UniProtKB/Swiss-Prot Function:
Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions (By similarity).

Phenotypes From GWAS Catalog for CLGN Gene

Gene Ontology (GO) - Molecular Function for CLGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA 21873635
GO:0005515 protein binding IEA --
GO:0044183 protein binding involved in protein folding IEA --
GO:0051082 unfolded protein binding TAS,IEA --
genes like me logo Genes that share ontologies with CLGN: view
genes like me logo Genes that share phenotypes with CLGN: view

Animal Models for CLGN Gene

MGI Knock Outs for CLGN:

Animal Model Products

CRISPR Products

miRNA for CLGN Gene

miRTarBase miRNAs that target CLGN

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLGN

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

Localization for CLGN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLGN Gene

Endoplasmic reticulum membrane. Single-pass type I 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 CLGN gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CLGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IEA --
GO:0005783 endoplasmic reticulum TAS,IDA --
GO:0005789 endoplasmic reticulum membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLGN: view

Pathways & Interactions for CLGN Gene

PathCards logo

SuperPathways for CLGN Gene

No Data Available

Gene Ontology (GO) - Biological Process for CLGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IBA 21873635
GO:0007338 single fertilization TAS 9177349
GO:0007339 binding of sperm to zona pellucida IEA --
GO:0030968 endoplasmic reticulum unfolded protein response IBA 21873635
GO:0065003 protein-containing complex assembly IEA --
genes like me logo Genes that share ontologies with CLGN: view

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

Drugs & Compounds for CLGN Gene

(1) Drugs for CLGN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with CLGN: view

Transcripts for CLGN Gene

mRNA/cDNA for CLGN Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLGN

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

No ASD Table

Relevant External Links for CLGN Gene

GeneLoc Exon Structure for
CLGN

Expression for CLGN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (x11.6), Testis (x11.1), and Heart - Atrial Appendage (x8.4).

Protein differential expression in normal tissues from HIPED for CLGN Gene

This gene is overexpressed in Ovary (54.2).

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



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

SOURCE GeneReport for Unigene cluster for CLGN Gene:

Hs.86368

mRNA Expression by UniProt/SwissProt for CLGN Gene:

O14967-CLGN_HUMAN
Tissue specificity: Detected in testis (at protein level). Detected in testis.

Evidence on tissue expression from TISSUES for CLGN Gene

  • Blood(2.4)
  • Heart(2.3)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with CLGN: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLGN Gene

Orthologs for CLGN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CLGN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CLGN 30
  • 99.65 (n)
Dog
(Canis familiaris)
Mammalia CLGN 30 31
  • 92.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLGN 30 31
  • 90.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Clgn 30 17 31
  • 79.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Clgn 30
  • 78.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia CLGN 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CLGN 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CLGN 30 31
  • 72.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CLGN 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia clgn 30
  • 67.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii clgn 30 31
  • 65.13 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9906 32
  • 45 (a)
Cnx14D 31
  • 43 (a)
ManyToMany
Cnx99A 31 32
  • 42 (a)
ManyToMany
CG1924 31 32
  • 41 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea cnx-1 31 32
  • 36 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNE1 31
  • 28 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cnx1 30
  • 57.13 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU09265 30
  • 49.84 (n)
Species where no ortholog for CLGN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • 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 Vase (Ciona intestinalis)
  • 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 CLGN Gene

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

Paralogs for CLGN Gene

Paralogs for CLGN Gene

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

  • CLGN_HUMAN
  • D6RAZ4_HUMAN
  • L8E7N0_HUMAN
genes like me logo Genes that share paralogs with CLGN: view

Variants for CLGN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLGN Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
785108 Benign: not provided 140,400,496(-) A/G SYNONYMOUS_VARIANT
rs1560739587 Likely Pathogenic: Short stature 140,396,131(-) T/C MISSENSE_VARIANT
rs1560743601 Likely Pathogenic: Short stature 140,405,975(-) G/T MISSENSE_VARIANT
rs201306926 Likely Pathogenic: Short stature 140,399,004(-) T/C MISSENSE_VARIANT
rs12513290 - p.Arg352Trp

Additional dbSNP identifiers (rs#s) for CLGN Gene

Variation tolerance for CLGN Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.10; 84.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLGN Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CLGN Gene

Disorders for CLGN Gene

MalaCards: The human disease database

(4) MalaCards diseases for CLGN Gene - From: DISEASES

Disorder Aliases PubMed IDs
colloid adenoma
  • macrofollicular adenoma
carotid artery dissection
  • dissection of carotid artery
fetal adenoma
  • microfollicular adenoma
pelvic varices
- elite association - COSMIC cancer census association via MalaCards
Search CLGN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CLGN

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

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

Publications for CLGN Gene

  1. Cloning and characterization of the human Calmegin gene encoding putative testis-specific chaperone. (PMID: 9434179) Tanaka H … Nishimune Y (Gene 1997) 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PMID: 17903293) Benjamin EJ … Vasan RS (BMC medical genetics 2007) 3 41
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Coordinated transcriptional regulation of calmegin,a testis-specific molecular chaperon, by histone deacetylase and CpG methyltransferase. (PMID: 16264275) Kim DH … Kwon HJ (Experimental & molecular medicine 2005) 3 23

Products for CLGN Gene

  • Signalway Proteins for CLGN

Sources for CLGN Gene