Gene Gene information from NCBI Gene database.
Entrez ID 9781
Gene name Ring finger protein 144A
Gene symbol RNF144A
Synonyms (NCBI Gene)
RNF144UBCE7IP4UIP4hUIP4
Chromosome 2
Chromosome location 2p25.1
Summary This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein
miRNA miRNA information provided by mirtarbase database.
402
miRTarBase ID miRNA Experiments Reference
MIRT004988 hsa-miR-125b-5p Microarray 17891175
MIRT019138 hsa-miR-335-5p Microarray 18185580
MIRT030321 hsa-miR-26b-5p Microarray 19088304
MIRT030564 hsa-miR-24-3p Microarray 19748357
MIRT1310370 hsa-miR-1262 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MTA1 Repression 22184113
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0002221 Process Pattern recognition receptor signaling pathway IDA 23910378
GO:0002221 Process Pattern recognition receptor signaling pathway IDA 37955227
GO:0002753 Process Cytoplasmic pattern recognition receptor signaling pathway IDA 29441066
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
619454 20457 ENSG00000151692
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P50876
Protein name E3 ubiquitin-protein ligase RNF144A (EC 2.3.2.31) (RING finger protein 144A) (UbcM4-interacting protein 4) (Ubiquitin-conjugating enzyme 7-interacting protein 4)
Protein function E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:26216882). Mediates the ubiquitinatio
PDB 1WIM , 6L99
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01485 IBR 91 156 IBR domain, a half RING-finger domain Domain
PF01485 IBR 168 232 IBR domain, a half RING-finger domain Domain
Sequence
MTTTRYRPTWDLALDPLVSCKLCLGEYPVEQMTTIAQCQCIFCTLCLKQYVELLIKEGLE
TAISCPDAACPKQGHLQENEIECMVAAEIMQRYKKLQFEREVLFDPCRTWCPASTCQAVC
QLQDVGLQTPQPVQCKACRMEFCSTCKASWHPGQGC
PETMPITFLPGETSAAFKMEEDDA
PIKRCPKCKVYIERDEGCAQMMCKNCKHAFCWYCLESLDDDFLLIHYDKGPC
RNKLGHSR
ASVIWHRTQVVGIFAGFGLLLLVASPFLLLATPFVLCCKCKCSKGDDDPLPT
Sequence length 292
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    E3 ubiquitin ligases ubiquitinate target proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM 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
Alzheimer Disease Alzheimer disease Pubtator 31280115 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22184113, 29212245, 29473320, 31406303
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29473320 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35103856 Inhibit
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 39465767 Inhibit
★☆☆☆☆
Found in Text Mining only
Intracranial Aneurysm Intracranial Aneurysm GWASCAT_DG 30823506
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 22184113, 29212245, 29473320, 31406303
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 22184113, 30171075, 31406303
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 29473320, 31406303
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29473320, 31406303
★☆☆☆☆
Found in Text Mining only