COBL (cordon-bleu WH2 repeat protein)

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

Gene

• Entrez ID: 23242
• Gene name: Cordon-bleu WH2 repeat protein
• Gene symbol: COBL
• Synonyms (NCBI Gene): -
• Chromosome: 7
• Chromosome location: 7p12.1
• Summary: 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

miRNA Show/Hide all (51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT902014	hsa-miR-1229	CLIP-seq
MIRT902015	hsa-miR-1305	CLIP-seq
MIRT902016	hsa-miR-633	CLIP-seq
MIRT1967557	hsa-miR-3591-3p	CLIP-seq
MIRT1967558	hsa-miR-371-5p	CLIP-seq
MIRT1967559	hsa-miR-371b-5p	CLIP-seq
MIRT1967560	hsa-miR-4307	CLIP-seq
MIRT1967561	hsa-miR-548a-5p	CLIP-seq
MIRT1967562	hsa-miR-548ab	CLIP-seq
MIRT1967563	hsa-miR-548ak	CLIP-seq
MIRT1967564	hsa-miR-548b-5p	CLIP-seq
MIRT1967565	hsa-miR-548c-5p	CLIP-seq
MIRT1967566	hsa-miR-548d-5p	CLIP-seq
MIRT1967567	hsa-miR-548h	CLIP-seq
MIRT1967568	hsa-miR-548i	CLIP-seq
MIRT1967569	hsa-miR-548j	CLIP-seq
MIRT1967570	hsa-miR-548w	CLIP-seq
MIRT1967571	hsa-miR-548y	CLIP-seq
MIRT1967572	hsa-miR-558	CLIP-seq
MIRT1967573	hsa-miR-559	CLIP-seq
MIRT1967574	hsa-miR-802	CLIP-seq
MIRT2203308	hsa-miR-124	CLIP-seq
MIRT2203309	hsa-miR-1253	CLIP-seq
MIRT2203310	hsa-miR-297	CLIP-seq
MIRT2203311	hsa-miR-299-3p	CLIP-seq
MIRT2203312	hsa-miR-3607-5p	CLIP-seq
MIRT2203313	hsa-miR-3652	CLIP-seq
MIRT2203314	hsa-miR-3688-5p	CLIP-seq
MIRT2203315	hsa-miR-3714	CLIP-seq
MIRT1967558	hsa-miR-371-5p	CLIP-seq
MIRT1967559	hsa-miR-371b-5p	CLIP-seq
MIRT2203316	hsa-miR-3910	CLIP-seq
MIRT2203317	hsa-miR-4430	CLIP-seq
MIRT2203318	hsa-miR-4474-3p	CLIP-seq
MIRT2203319	hsa-miR-4491	CLIP-seq
MIRT2203320	hsa-miR-4505	CLIP-seq
MIRT2203321	hsa-miR-4521	CLIP-seq
MIRT2203322	hsa-miR-4536	CLIP-seq
MIRT2203323	hsa-miR-4657	CLIP-seq
MIRT2203324	hsa-miR-4679	CLIP-seq
MIRT2203325	hsa-miR-4709-3p	CLIP-seq
MIRT2203326	hsa-miR-487a	CLIP-seq
MIRT2203327	hsa-miR-506	CLIP-seq
MIRT2203328	hsa-miR-548n	CLIP-seq
MIRT2203329	hsa-miR-548t	CLIP-seq
MIRT1967572	hsa-miR-558	CLIP-seq
MIRT2203330	hsa-miR-567	CLIP-seq
MIRT2203331	hsa-miR-622	CLIP-seq
MIRT2203332	hsa-miR-647	CLIP-seq
MIRT2203333	hsa-miR-767-5p	CLIP-seq
MIRT2203334	hsa-miR-933	CLIP-seq

Gene ontology (GO) Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000578	Process	Embryonic axis specification	IEA
GO:0000578	Process	Embryonic axis specification	ISS
GO:0001726	Component	Ruffle	IBA
GO:0001726	Component	Ruffle	IEA
GO:0001726	Component	Ruffle	ISS
GO:0001757	Process	Somite specification	IEA
GO:0001757	Process	Somite specification	ISS
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	ISS
GO:0003779	Function	Actin binding	IEA
GO:0003785	Function	Actin monomer binding	IBA
GO:0003785	Function	Actin monomer binding	IEA
GO:0003785	Function	Actin monomer binding	ISS
GO:0005515	Function	Protein binding	IPI	20936779, 31413325, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IBA
GO:0005884	Component	Actin filament	IEA
GO:0005884	Component	Actin filament	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0005938	Component	Cell cortex	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030041	Process	Actin filament polymerization	IBA
GO:0030041	Process	Actin filament polymerization	IEA
GO:0030041	Process	Actin filament polymerization	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030903	Process	Notochord development	IEA
GO:0030903	Process	Notochord development	ISS
GO:0033504	Process	Floor plate development	IEA
GO:0033504	Process	Floor plate development	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0044294	Component	Dendritic growth cone	IBA
GO:0044294	Component	Dendritic growth cone	IEA
GO:0044294	Component	Dendritic growth cone	ISS
GO:0044295	Component	Axonal growth cone	IBA
GO:0044295	Component	Axonal growth cone	IEA
GO:0044295	Component	Axonal growth cone	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048565	Process	Digestive tract development	IEA
GO:0048565	Process	Digestive tract development	ISS
GO:0048669	Process	Collateral sprouting in absence of injury	IEA
GO:0048669	Process	Collateral sprouting in absence of injury	ISS
GO:0051639	Process	Actin filament network formation	IBA
GO:0051639	Process	Actin filament network formation	IEA
GO:0051639	Process	Actin filament network formation	ISS
GO:1900006	Process	Positive regulation of dendrite development	IEA
GO:1900006	Process	Positive regulation of dendrite development	ISS
GO:1900029	Process	Positive regulation of ruffle assembly	IEA
GO:1990357	Component	Terminal web	IBA

Other IDs

• MIM: 610317
• HGNC: 22199
• e!Ensembl: ENSG00000106078

Protein

• UniProt ID: O75128
• Protein name: Protein cordon-bleu
• Protein function: Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin
• PDB: 4PL8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02205	WH2	1146 → 1176	WH2 motif	Family
  PF02205	WH2	1106 → 1136	WH2 motif	Family
  PF02205	WH2	1235 → 1258	WH2 motif	Family
  PF09469	Cobl	144 → 235	Cordon-bleu ubiquitin-like domain	Domain

• Sequence:

  MDAPRASAAKPPTGRKMKARAPPPPGKAATLHVHSDQKPPHDGALGSQQNLVRMKEALRA
  STMDVTVVLPSGLEKRSVLNGSHAMMDLLVELCLQNHLNPSHHALEIRSSETQQPLSFKP
  NTLIGTLNVHTVFLKEKVPEEKVKPGPPKVPEKSVRLVVNYLRTQKAVVRVSPEVPLQNI
  LPVICAKCEVSPEHVVLLRDNIAGEELELSKSLNELGIKELYAWDNRRETFRKSSLGNDE
  TDKEKKKFLGFFKVNKRSNSKGCLTTPNSPSMHSRSLTLGPSLSLGSISGVSVKSEMKKR
  RAPPPPGSGPPVQDKASEKVSLGSQIDLQKKKRRAPAPPPPQPPPPSPLIPNRTEDKEEN
  RKSTMVSLPLGSGSHCSPDGAPQVLSEAEETVSVGSCFASEDTTEDSGVMSSPSDIVSLD
  SQQDSMKYKDKWATDQEDCSDQDLAGTPDLGPQKSPLWEKNGSENSHLRTEKAVTASNDE
  EDLLIAGEFRKTLAELDEDLEEMEDSYETDTSSLTSSIHGASNHCPQDAMIPHGDTDAIP
  VTFIGEVSDDPVDSGLFSNRNNNAGSFDSEGVASRRDSLAPLQAEHSQPHEKAREEVPAL
  HPASHDVGKGIRVALSNISKDGNLMETAPRVTSFASNLHTDNLNAKVKDKVYGCADGERT
  QATERVNSQPVNEKDSNDKNAALAPTSWHQRGQNPGKSYRLKHGLTTYKIIPPKSEMRCY
  DRDVSLSTGAIKIDELGNLVSPHATGIRIISLSSSVPEAESQPIGKVREFWRCNSVEKHL
  GRPSESSARGPPSTPVPTQTQNPESRLQADPKPISPQQKSAHHEGRNPLGEGRNQPPTMG
  MGHVRVPAAHTTEVTFLKPQRRTSSQYVASAIAKRIGAPKVHADVVRPHGYAEKGYAGKA
  PVLAAPPVTVKDDRTSSPHSETQGWKDGAQWPCVTPPNNHGEDLAVGAPPRGEVIGPHRK
  LSTQDRPAAIHRSSCFSLVQSSQRDRVSVGQSCGFSGKQSTSSQEASSASEPRRAPDGTD
  PPPPHTSDTQACSRELVNGSVRAPGHGEPSHPPGGSGTESHILLEREEKPSVFSTDGNET
  DSIWPPSIFGPKKKFKPVVQRPVPKDTSLHSALMEAIHSAGGKDRLRKTAEHTGEGRPAK
  LSYTEAEGERSALLAAIRGHSGTCSLRKVASSASEELQSFRDAALSAQGSESPLLEDLGL
  LSPPAIPPPPPPPSQALSAPRTASRFSTGTLSNTADARQALMDAIRSGTGAARLRKVPLL
  V

• Sequence length: 1261

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)

Unknown / Other Associations Show/Hide Unknown Diseases (15)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTOIMMUNE DISEASE	—	GWAS catalog	30572963	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOMAL DISORDER	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29071344	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL DISORDER	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	28604730, 29924316	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	19430480, 25751624, 30572963, 33830302	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	19430480, 25751624, 30572963, 32541925, 33830302, 38374256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (13)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30877974		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27770636	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29749538	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27419633		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	26053495	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26053495	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22932816, 23539116		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26053495		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30877974		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	36834493	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36834493	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30877974		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29749538		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

GRB10 2 shared diseasesAutoimmune disease, Chromosomal disorder 2 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Chromosomal disorder) Related via 2 shared diseases including Autoimmune disease, Chromosomal disorder — evidence mostly GWAS catalog. NEK6 2 shared diseasesAutoimmune disease, Nasal disorder 2 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Nasal disorder) Related via 2 shared diseases including Autoimmune disease, Nasal disorder — evidence mostly GWAS catalog. FUT2 2 shared diseasesAutoimmune disease, Nasal disorder 2 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Nasal disorder) Related via 2 shared diseases including Autoimmune disease, Nasal disorder — evidence mostly GWAS catalog. TIMP1 2 shared diseasesAutoimmune disease, Vascular disease Related via 2 shared diseases including Autoimmune disease, Vascular disease. ALDH2 2 shared diseasesAutoimmune disease, Vascular disease 1 shared evidence sourceGWAS catalog (Autoimmune disease) Related via 2 shared diseases including Autoimmune disease, Vascular disease — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GRB10	2	["Autoimmune disease","Chromosomal disorder"]	0	[]	2	["GWAS catalog (Autoimmune disease)","GWAS catalog (Chromosomal disorder)"]
NEK6	2	["Autoimmune disease","Nasal disorder"]	0	[]	2	["GWAS catalog (Autoimmune disease)","GWAS catalog (Nasal disorder)"]
FUT2	2	["Autoimmune disease","Nasal disorder"]	0	[]	2	["GWAS catalog (Autoimmune disease)","GWAS catalog (Nasal disorder)"]
TIMP1	2	["Autoimmune disease","Vascular disease"]	0	[]	0	[]
ALDH2	2	["Autoimmune disease","Vascular disease"]	0	[]	1	["GWAS catalog (Autoimmune disease)"]

Diseases Linked via Similar Genes

Atrial fibrillation Linked via 3 of 5 related genesGRB10, NEK6, ALDH2 Hypertension Linked via 3 of 5 related genesFUT2, TIMP1, ALDH2 Gout Linked via 2 of 5 related genesGRB10, ALDH2 Prostate cancer Linked via 2 of 5 related genesGRB10, NEK6 Schizophrenia Linked via 2 of 5 related genesGRB10, FUT2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrial fibrillation	3	["GRB10","NEK6","ALDH2"]
Hypertension	3	["FUT2","TIMP1","ALDH2"]
Gout	2	["GRB10","ALDH2"]
Prostate cancer	2	["GRB10","NEK6"]
Schizophrenia	2	["GRB10","FUT2"]