• Gene id: 23242

Gene Summary

• Gene Symbol: COBL   Gene   UCSC   Ensembl
• Gene name: cordon-bleu WH2 repeat protein
• Alternate names: protein cordon-bleu,
• Gene location: 7p12.1 (59565562: 59608344)     Exons: 18     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role
• OMIM: 610317

SNPs

rs1545125

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.51083534A>G
NC_000007.13   g.51151231A>G
NG_051816.1   g.238328T>C|SEQ=[A/G]|GENE=COBL

Protein Summary

• Protein general information: O75128  
  • Name: Protein cordon bleu
  • Length: 1261  
  • Mass: 135617
• Sequence:

  MDAPRASAAKPPTGRKMKARAPPPPGKAATLHVHSDQKPPHDGALGSQQNLVRMKEALRASTMDVTVVLPSGLEK
  RSVLNGSHAMMDLLVELCLQNHLNPSHHALEIRSSETQQPLSFKPNTLIGTLNVHTVFLKEKVPEEKVKPGPPKV
  PEKSVRLVVNYLRTQKAVVRVSPEVPLQNILPVICAKCEVSPEHVVLLRDNIAGEELELSKSLNELGIKELYAWD
  NRRETFRKSSLGNDETDKEKKKFLGFFKVNKRSNSKGCLTTPNSPSMHSRSLTLGPSLSLGSISGVSVKSEMKKR
  RAPPPPGSGPPVQDKASEKVSLGSQIDLQKKKRRAPAPPPPQPPPPSPLIPNRTEDKEENRKSTMVSLPLGSGSH
  CSPDGAPQVLSEAEETVSVGSCFASEDTTEDSGVMSSPSDIVSLDSQQDSMKYKDKWATDQEDCSDQDLAGTPDL
  GPQKSPLWEKNGSENSHLRTEKAVTASNDEEDLLIAGEFRKTLAELDEDLEEMEDSYETDTSSLTSSIHGASNHC
  PQDAMIPHGDTDAIPVTFIGEVSDDPVDSGLFSNRNNNAGSFDSEGVASRRDSLAPLQAEHSQPHEKAREEVPAL
  HPASHDVGKGIRVALSNISKDGNLMETAPRVTSFASNLHTDNLNAKVKDKVYGCADGERTQATERVNSQPVNEKD
  SNDKNAALAPTSWHQRGQNPGKSYRLKHGLTTYKIIPPKSEMRCYDRDVSLSTGAIKIDELGNLVSPHATGIRII
  SLSSSVPEAESQPIGKVREFWRCNSVEKHLGRPSESSARGPPSTPVPTQTQNPESRLQADPKPISPQQKSAHHEG
  RNPLGEGRNQPPTMGMGHVRVPAAHTTEVTFLKPQRRTSSQYVASAIAKRIGAPKVHADVVRPHGYAEKGYAGKA
  PVLAAPPVTVKDDRTSSPHSETQGWKDGAQWPCVTPPNNHGEDLAVGAPPRGEVIGPHRKLSTQDRPAAIHRSSC
  FSLVQSSQRDRVSVGQSCGFSGKQSTSSQEASSASEPRRAPDGTDPPPPHTSDTQACSRELVNGSVRAPGHGEPS
  HPPGGSGTESHILLEREEKPSVFSTDGNETDSIWPPSIFGPKKKFKPVVQRPVPKDTSLHSALMEAIHSAGGKDR
  LRKTAEHTGEGRPAKLSYTEAEGERSALLAAIRGHSGTCSLRKVASSASEELQSFRDAALSAQGSESPLLEDLGL
  LSPPAIPPPPPPPSQALSAPRTASRFSTGTLSNTADARQALMDAIRSGTGAARLRKVPLLV

• Structural information:
  • Protein Domains: (1109..112-)
    (/note="WH2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406-)
    (1149..116-)
    (/note="WH2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406-)
    (1237..125-)
    (/note="WH2-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406-)
  • Interpro: IPR039895  IPR019025  IPR003124  
  • Prosite: PS51082
  • PDB: 4PL8
  • PDBsum: 4PL8
  • STRING: ENSP00000378912
• Other Databases: GeneCards:  COBL  Malacards:  COBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990357	terminal web	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0044295	axonal growth cone	IBA	cellular component
GO:0030041	actin filament polymerization	IBA	biological process
GO:0003785	actin monomer binding	IBA	molecular function
GO:0001726	ruffle	IBA	cellular component
GO:0051639	actin filament network formation	IBA	biological process
GO:0044294	dendritic growth cone	IBA	cellular component
GO:0043025	neuronal cell body	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005884	actin filament	IBA	colocalizes with
GO:0003779	actin binding	IEA	molecular function
GO:0003785	actin monomer binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044295	axonal growth cone	IEA	cellular component
GO:0030903	notochord development	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030041	actin filament polymerization	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:0003785	actin monomer binding	IEA	molecular function
GO:0001726	ruffle	IEA	cellular component
GO:1900006	positive regulation of dendrite development	IEA	biological process
GO:0048669	collateral sprouting in absence of injury	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0044294	dendritic growth cone	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0033504	floor plate development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005884	actin filament	IEA	cellular component
GO:0001889	liver development	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0001757	somite specification	IEA	biological process
GO:0000578	embryonic axis specification	IEA	biological process
GO:1900029	positive regulation of ruffle assembly	IEA	biological process
GO:0051639	actin filament network formation	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0003785	actin monomer binding	ISS	molecular function
GO:0001726	ruffle	ISS	cellular component
GO:0005938	cell cortex	ISS	cellular component
GO:0005938	cell cortex	ISS	cellular component
GO:0030041	actin filament polymerization	ISS	biological process
GO:0030424	axon	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030903	notochord development	ISS	biological process
GO:0044295	axonal growth cone	ISS	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0048669	collateral sprouting in absence of injury	ISS	biological process
GO:1900006	positive regulation of dendrite development	ISS	biological process
GO:0000578	embryonic axis specification	ISS	biological process
GO:0001757	somite specification	ISS	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0001889	liver development	ISS	biological process
GO:0005884	actin filament	ISS	colocalizes with
GO:0005886	plasma membrane	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0033504	floor plate development	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0044294	dendritic growth cone	ISS	cellular component
GO:0048565	digestive tract development	ISS	biological process
GO:0051639	actin filament network formation	ISS	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
19478329	Azoospermia, Oligozoospermia	rs1545125	Caucasi an	49 cases	Male infertility	GWAS