• Gene id: 158506

Gene Summary

• Gene Symbol: CBLL2   Gene   UCSC   Ensembl
• Aliases: CT138, HAKAIL, ZNF645
• Gene name: Cbl proto-oncogene like 2
• Alternate names: E3 ubiquitin-protein ligase CBLL2, E3 ubiquitin ligase, E3 ubiquitin-protein ligase ZNF645, RING-type E3 ubiquitin transferase ZNF645, c-Cbl-like protein 2, cbl proto-oncogene-like protein 2, zinc finger protein 645,
• Gene location: Xp22.11 (40647817: 40624961)     Exons: 11     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role

Protein Summary

• Protein general information: Q8N7E2  
  • Name: E3 ubiquitin protein ligase CBLL2 (EC 2.3.2.27) (Cbl proto oncogene like protein 2) (RING type E3 ubiquitin transferase ZNF645) (Zinc finger protein 645) (c Cbl like protein 2)
  • Length: 425  
  • Mass: 48785
  • Tissue specificity: Exclusively expressed in testis and sperm, including spermatocytes, round and elongated spermatids, and Leydig cells. {ECO
• Sequence:

  MNKMPAGEQECEYNKEGKYYSKGVKLVRKKKKIPGYRWGDIKINIIGEKDDLPIHFCDKCDLPIKIYGRIIPCKH
  AFCYHCANLYDKVGYKVCPRCRYPVLRIEAHKRGSVFMCSIVQQCKRTYLSQKSLQAHIKRRHKRARKQVTSASL
  EKVRPHIAPPQTEISDIPKRLQDRDHLSYIPPEQHTMVSLPSVQHMLQEQHNQPHKDIQAPPPELSLSLPFPIQW
  ETVSIFTRKHGNLTVDHIQNNSDSGAKKPTPPDYYPECQSQPAVSSPHHIIPQKQHYAPPPSPSSPVNHQMPYPP
  QDVVTPNSVRSQVPALTTTYDPSSGYIIVKVPPDMNSPPLRAPQSQNGNPSASEFASHHYNLNILPQFTENQETL
  SPQFTQTDAMDHRRWPAWKRLSPCPPTRSPPPSTLHGRSHHSHQRRHRRY

• Structural information:
  • Interpro: IPR040380  IPR040383  IPR013087  IPR041042  IPR001841   IPR013083  IPR017907  
  • Prosite: PS00518 PS50089 PS50157
  • CDD: cd16508
  • STRING: ENSP00000323348
• Other Databases: GeneCards:  CBLL2  Malacards:  CBLL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030155	regulation of cell adhesion	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0016567	protein ubiquitination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881