Gene Gene information from NCBI Gene database.
Entrez ID 79699
Gene name Zyg-11 family member B, cell cycle regulator
Gene symbol ZYG11B
Synonyms (NCBI Gene)
ZYG11
Chromosome 1
Chromosome location 1p32.3
miRNA miRNA information provided by mirtarbase database.
1461
miRTarBase ID miRNA Experiments Reference
MIRT031006 hsa-miR-21-5p Microarray 18591254
MIRT611671 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT611670 hsa-miR-548ah-3p HITS-CLIP 23824327
MIRT611669 hsa-miR-548aj-3p HITS-CLIP 23824327
MIRT611668 hsa-miR-548am-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17304241, 21145461, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0006515 Process Protein quality control for misfolded or incompletely synthesized proteins IMP 31273098
GO:0031462 Component Cul2-RING ubiquitin ligase complex IBA
GO:0031462 Component Cul2-RING ubiquitin ligase complex IDA 31273098
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618673 25820 ENSG00000162378
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0D3
Protein name Protein zyg-11 homolog B
Protein function Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts to target substrates bearing N-terminal degrons for proteasomal degradation with the first four residues of substrates being the key recognition
PDB 7EP0 , 7EP1 , 7EP2 , 7XV7 , 7XYV , 7XYW , 7XYX , 7YC2
Family and domains
Sequence
MPEDQAGAAMEEASPYSLLDICLNFLTTHLEKFCSARQDGTLCLQEPGVFPQEVADRLLR
TMAFHGLLNDGTVGIFRGNQMRLKRACIRKAKISAVAFRKAFCHHKLVELDATGVNADIT
ITDIISGLGSNKWIQQNLQCLVLNSLTLSLEDPYERCFSRLSGLRALSITNVLFYNEDLA
EVASLPRLESLDISNTSITDITALLACKDRLKSLTMHHLKCLKMTTTQILDVVRELKHLN
HLDISDDKQFTSDIALRLLEQKDILPNLVSLDVSGRKHVTDKAVEAFIQQRPSMQFVGLL
ATDAGYSEFLTGEGHLKVSGEANETQIAEALKRYSERAFFVREALFHLFSLTHVMEKTKP
EILKLVVTGMRNHPMNLPVQLAASACVFNLTKQDLAAGMPVRLLADVTHLLLKAMEHFPN
HQQLQKNCLLSLCSDRILQDVPFNRFEAAKLVMQWLCNHEDQNMQRMAVAIISILAAKLS
TEQTAQLGTELFIVRQLLQIVKQKTNQNSVDTTLKFTLSALWNLTDESPTTCRHFIENQG
LELFMRVLESFPTESSIQQKVLGLLNNIAEVQELHSELMWKDFIDHISSLLHSVEVEVSY
FAAGIIAHLISRGEQAWTLSRSQRNSLLDDLHSAILKWPTPECEMVAYRSFNPFFPLLGC
FTTPGVQLWAVWAMQHVCSKNPSRYCSMLIEEGGLQHLYNIKDHEHTDPHVQQIAVAILD
SLEKHIVRHGRPPPCKKQPQARLN
Sequence length 744
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Craniofacial microsomia 1 Likely pathogenic rs1365622597 RCV002254409
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HEMIFACIAL MICROSOMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ZYG11B-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colonic Neoplasms Colonic neoplasm Pubtator 39350118 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36847071 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 39350118 Inhibit
★☆☆☆☆
Found in Text Mining only
Narcolepsy Narcolepsy GWASDB_DG 19629137
★☆☆☆☆
Found in Text Mining only
Peripheral Arterial Diseases Vascular Diseases GWASCAT_DG 27082954
★☆☆☆☆
Found in Text Mining only
Retinal Diseases Retinal detachment Pubtator 35730627 Associate
★☆☆☆☆
Found in Text Mining only
Spondylocostal dysostosis autosomal recessive Spondylocostal dysostosis Pubtator 33530447 Associate
★☆☆☆☆
Found in Text Mining only