Gene Gene information from NCBI Gene database.
Entrez ID 64777
Gene name Required for meiotic nuclear division 5 homolog B
Gene symbol RMND5B
Synonyms (NCBI Gene)
GID2GID2B
Chromosome 5
Chromosome location 5q35.3
miRNA miRNA information provided by mirtarbase database.
85
miRTarBase ID miRNA Experiments Reference
MIRT048892 hsa-miR-93-5p CLASH 23622248
MIRT1308553 hsa-miR-1179 CLIP-seq
MIRT1308554 hsa-miR-1207-5p CLIP-seq
MIRT1308555 hsa-miR-1265 CLIP-seq
MIRT1308556 hsa-miR-140-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96G75
Protein name E3 ubiquitin-protein transferase RMND5B (EC 2.3.2.27) (Protein RMD5 homolog B)
Protein function Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required f
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10607 CLTH 155 299 CTLH/CRA C-terminal to LisH motif domain Domain
Sequence
MEQCACVERELDKVLQKFLTYGQHCERSLEELLHYVGQLRAELASAALQGTPLSATLSLV
MSQCCRKIKDTVQKLASDHKDIHSSVSRVGKAIDRNFDSEICGVVSDAVWDAREQQQQIL
QMAIVEHLYQQGMLSVAEELCQESTLNVDLDFKQPFLELNRILEALHEQDLGPALEWAVS
HRQRLLELNSSLEFKLHRLHFIRLLAGGPAKQLEALSYARHFQPFARLHQREIQVMMGSL
VYLRLGLEKSPYCHLLDSSHWAEICETFTRDACSLLGLSVESPLSVSFASGCVALPVLM
N
IKAVIEQRQCTGVWNHKDELPIEIELGMKCWYHSVFACPILRQQTSDSNPPIKLICGHVI
SRDALNKLINGGKLKCPYCPMEQNPADGKRIIF
Sequence length 393
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 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
DYSKERATOSIS CONGENITA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
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
Dwarfism Dwarfism BEFREE 28494021
★☆☆☆☆
Found in Text Mining only
Dyskeratosis Congenita Dyskeratosis Congenita CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 Dyskeratosis Congenita CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations