Gene Gene information from NCBI Gene database.
Entrez ID 64795
Gene name Required for meiotic nuclear division 5 homolog A
Gene symbol RMND5A
Synonyms (NCBI Gene)
CTLHGID2GID2ARMD5p44CTLH
Chromosome 2
Chromosome location 2p11.2
miRNA miRNA information provided by mirtarbase database.
1410
miRTarBase ID miRNA Experiments Reference
MIRT021911 hsa-miR-128-3p Sequencing 20371350
MIRT028728 hsa-miR-27a-3p Sequencing 20371350
MIRT030712 hsa-miR-21-5p Microarray 18591254
MIRT051577 hsa-let-7e-5p CLASH 23622248
MIRT046274 hsa-miR-23b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 29911972
GO:0000151 Component Ubiquitin ligase complex ISS
GO:0000209 Process Protein polyubiquitination ISS
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618964 25850 ENSG00000153561
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H871
Protein name E3 ubiquitin-protein transferase RMND5A (EC 2.3.2.27) (P44CTLH) (Protein RMD5 homolog A)
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
PDB 8PJN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10607 CLTH 153 297 CTLH/CRA C-terminal to LisH motif domain Domain
PF13445 zf-RING_UBOX 336 375 RING-type zinc-finger Domain
Sequence
MDQCVTVERELEKVLHKFSGYGQLCERGLEELIDYTGGLKHEILQSHGQDAELSGTLSLV
LTQCCKRIKDTVQKLASDHKDIHSSVSRVGKAIDKNFDSDISSVGIDGCWQADSQRLLNE
VMVEHFFRQGMLDVAEELCQESGLSVDPSQKEPFVELNRILEALKVRVLRPALEWAVSNR
EMLIAQNSSLEFKLHRLYFISLLMGGTTNQREALQYAKNFQPFALNHQKDIQVLMGSLVY
LRQGIENSPYVHLLDANQWADICDIFTRDACALLGLSVESPLSVSFSAGCVALPALI
NIK
AVIEQRQCTGVWNQKDELPIEVDLGKKCWYHSIFACPILRQQTTDNNPPMKLVCGHIISR
DALNKMFNGSKLKCP
YCPMEQSPGDAKQIFF
Sequence length 391
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
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 28731166 Associate
★☆☆☆☆
Found in Text Mining only
Congenital cerebral hernia Congenital Cerebral Hernia BEFREE 22681319
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism BEFREE 28494021
★☆☆☆☆
Found in Text Mining only
Encephalocele Encephalocele BEFREE 22681319
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma Pubtator 33883344 Associate
★☆☆☆☆
Found in Text Mining only
Mouth Neoplasms Mouth neoplasm Pubtator 38229133 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30795516
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 36828188 Associate
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 38229133 Associate
★☆☆☆☆
Found in Text Mining only