CLGN (calmegin)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 1047
• Gene name: Calmegin
• Gene symbol: CLGN
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4q31.1
• Summary: Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201306926	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1560739587	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1560743601	G>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1965714	hsa-miR-1273d	CLIP-seq
MIRT1965715	hsa-miR-2052	CLIP-seq
MIRT1965716	hsa-miR-3161	CLIP-seq
MIRT1965717	hsa-miR-548aa	CLIP-seq
MIRT2201626	hsa-miR-3128	CLIP-seq
MIRT2201627	hsa-miR-3163	CLIP-seq
MIRT2201628	hsa-miR-4422	CLIP-seq
MIRT2201629	hsa-miR-4720-5p	CLIP-seq
MIRT2201630	hsa-miR-4799-3p	CLIP-seq
MIRT2201631	hsa-miR-548ac	CLIP-seq
MIRT2201632	hsa-miR-548ae	CLIP-seq
MIRT2201633	hsa-miR-548aj	CLIP-seq
MIRT2201634	hsa-miR-548am	CLIP-seq
MIRT2201635	hsa-miR-548d-3p	CLIP-seq
MIRT2201636	hsa-miR-548x	CLIP-seq
MIRT2201637	hsa-miR-548z	CLIP-seq
MIRT2504489	hsa-miR-137	CLIP-seq
MIRT2504490	hsa-miR-216a	CLIP-seq
MIRT2504491	hsa-miR-216b	CLIP-seq
MIRT2504492	hsa-miR-25	CLIP-seq
MIRT2504493	hsa-miR-299-3p	CLIP-seq
MIRT2504494	hsa-miR-300	CLIP-seq
MIRT2504495	hsa-miR-32	CLIP-seq
MIRT2504496	hsa-miR-323b-3p	CLIP-seq
MIRT2504497	hsa-miR-33a	CLIP-seq
MIRT2504498	hsa-miR-33b	CLIP-seq
MIRT2504499	hsa-miR-3613-5p	CLIP-seq
MIRT2504500	hsa-miR-363	CLIP-seq
MIRT2504501	hsa-miR-3651	CLIP-seq
MIRT2504502	hsa-miR-367	CLIP-seq
MIRT2504503	hsa-miR-381	CLIP-seq
MIRT2504504	hsa-miR-3908	CLIP-seq
MIRT2504505	hsa-miR-3942-5p	CLIP-seq
MIRT2504506	hsa-miR-412	CLIP-seq
MIRT2504507	hsa-miR-4666-3p	CLIP-seq
MIRT2504508	hsa-miR-4703-5p	CLIP-seq
MIRT2504509	hsa-miR-4766-3p	CLIP-seq
MIRT2504510	hsa-miR-4795-3p	CLIP-seq
MIRT2504511	hsa-miR-513b	CLIP-seq
MIRT2504512	hsa-miR-548a-3p	CLIP-seq
MIRT2504513	hsa-miR-548e	CLIP-seq
MIRT2504514	hsa-miR-548f	CLIP-seq
MIRT2504515	hsa-miR-548g	CLIP-seq
MIRT2504516	hsa-miR-568	CLIP-seq
MIRT2504517	hsa-miR-576-5p	CLIP-seq
MIRT2504518	hsa-miR-642b	CLIP-seq
MIRT2504519	hsa-miR-653	CLIP-seq
MIRT2504520	hsa-miR-892a	CLIP-seq
MIRT2504521	hsa-miR-92a	CLIP-seq
MIRT2504522	hsa-miR-92b	CLIP-seq
MIRT2678266	hsa-let-7a	CLIP-seq
MIRT2678267	hsa-let-7b	CLIP-seq
MIRT2678268	hsa-let-7c	CLIP-seq
MIRT2678269	hsa-let-7d	CLIP-seq
MIRT2678270	hsa-let-7e	CLIP-seq
MIRT2678271	hsa-let-7f	CLIP-seq
MIRT2678272	hsa-let-7g	CLIP-seq
MIRT2678273	hsa-let-7i	CLIP-seq
MIRT2678274	hsa-miR-127-5p	CLIP-seq
MIRT2504489	hsa-miR-137	CLIP-seq
MIRT2678275	hsa-miR-202	CLIP-seq
MIRT2504490	hsa-miR-216a	CLIP-seq
MIRT2504491	hsa-miR-216b	CLIP-seq
MIRT2678276	hsa-miR-221	CLIP-seq
MIRT2678277	hsa-miR-222	CLIP-seq
MIRT2504492	hsa-miR-25	CLIP-seq
MIRT2504493	hsa-miR-299-3p	CLIP-seq
MIRT2504494	hsa-miR-300	CLIP-seq
MIRT2504495	hsa-miR-32	CLIP-seq
MIRT2504496	hsa-miR-323b-3p	CLIP-seq
MIRT2504497	hsa-miR-33a	CLIP-seq
MIRT2504498	hsa-miR-33b	CLIP-seq
MIRT2504499	hsa-miR-3613-5p	CLIP-seq
MIRT2504500	hsa-miR-363	CLIP-seq
MIRT2504501	hsa-miR-3651	CLIP-seq
MIRT2504502	hsa-miR-367	CLIP-seq
MIRT2504503	hsa-miR-381	CLIP-seq
MIRT2504504	hsa-miR-3908	CLIP-seq
MIRT2504505	hsa-miR-3942-5p	CLIP-seq
MIRT2504506	hsa-miR-412	CLIP-seq
MIRT2678278	hsa-miR-4252	CLIP-seq
MIRT2678279	hsa-miR-4458	CLIP-seq
MIRT2678280	hsa-miR-4500	CLIP-seq
MIRT2504507	hsa-miR-4666-3p	CLIP-seq
MIRT2504508	hsa-miR-4703-5p	CLIP-seq
MIRT2504509	hsa-miR-4766-3p	CLIP-seq
MIRT2504510	hsa-miR-4795-3p	CLIP-seq
MIRT2678281	hsa-miR-4799-5p	CLIP-seq
MIRT2504511	hsa-miR-513b	CLIP-seq
MIRT2504512	hsa-miR-548a-3p	CLIP-seq
MIRT2504513	hsa-miR-548e	CLIP-seq
MIRT2504514	hsa-miR-548f	CLIP-seq
MIRT2504515	hsa-miR-548g	CLIP-seq
MIRT2678282	hsa-miR-548v	CLIP-seq
MIRT2504516	hsa-miR-568	CLIP-seq
MIRT2504517	hsa-miR-576-5p	CLIP-seq
MIRT2504518	hsa-miR-642b	CLIP-seq
MIRT2504519	hsa-miR-653	CLIP-seq
MIRT2504520	hsa-miR-892a	CLIP-seq
MIRT2504521	hsa-miR-92a	CLIP-seq
MIRT2504522	hsa-miR-92b	CLIP-seq
MIRT2678283	hsa-miR-98	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	9177349
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007338	Process	Single fertilization	TAS	9177349
GO:0007339	Process	Binding of sperm to zona pellucida	IEA
GO:0016020	Component	Membrane	IEA
GO:0036503	Process	ERAD pathway	IBA
GO:0044183	Function	Protein folding chaperone	IEA
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051082	Function	Unfolded protein binding	TAS	9177349
GO:0065003	Process	Protein-containing complex assembly	IEA

Other IDs

• MIM: 601858
• HGNC: 2060
• e!Ensembl: ENSG00000153132

Protein

• UniProt ID: O14967
• Protein name: Calmegin
• Protein 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 u
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00262	Calreticulin	62 → 429	Calreticulin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in testis (at protein level). Detected in testis. {ECO:0000269|PubMed:9434179}.
• Sequence:

  MHFQAFWLCLGLLFISINAEFMDDDVETEDFEENSEEIDVNESELSSEIKYKTPQPIGEV
  YFAETFDSGRLAGWVLSKAKKDDMDEEISIYDGRWEIEELKENQVPGDRGLVLKSRAKHH
  AISAVLAKPFIFADKPLIVQYEVNFQDGIDCGGAYIKLLADTDDLILENFYDKTSYIIMF
  GPDKCGEDYKLHFIFRHKHPKTGVFEEKHAKPPDVDLKKFFTDRKTHLYTLVMNPDDTFE
  VLVDQTVVNKGSLLEDVVPPIKPPKEIEDPNDKKPEEWDERAKIPDPSAVKPEDWDESEP
  AQIEDSSVVKPAGWLDDEPKFIPDPNAEKPDDWNEDTDGEWEAPQILNPACRIGCGEWKP
  PMIDNPKYKGVWRPPLVDNPNYQGIWSPRKIPNPDYFEDDHPFLLTSFSALGLELWSMTS
  DIYFDNFIICSEKEVADHWAADGWRWKIMIANANKPGVLKQLMAAAEGHPWLWLIYLVTA
  GVPIALITSFCWPRKVKKKHKDTEYKKTDICIPQTKGVLEQEEKEEKAALEKPMDLEEEK
  KQNDGEMLEKEEESEPEEKSEEEIEIIEGQEESNQSNKSGSEDEMKEADESTGSGDGPIK
  SVRKRRVRKD

• Sequence length: 610

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Short stature	Likely pathogenic	rs1560739587	RCV000736209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Related Genes

No strongly related genes found yet for CLGN.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to CLGN.