Gene Gene information from NCBI Gene database.
Entrez ID 51149
Gene name MRN complex interacting protein
Gene symbol MRNIP
Synonyms (NCBI Gene)
C5orf45
Chromosome 5
Chromosome location 5q35.3
miRNA miRNA information provided by mirtarbase database.
97
miRTarBase ID miRNA Experiments Reference
MIRT690227 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT636899 hsa-miR-216a-5p HITS-CLIP 23313552
MIRT690226 hsa-miR-216b-5p HITS-CLIP 23313552
MIRT690225 hsa-miR-3929 HITS-CLIP 23313552
MIRT690224 hsa-miR-4419b HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 27568553
GO:0005515 Function Protein binding IPI 27568553, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 27568553
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617154 30817 ENSG00000161010
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NTE8
Protein name MRN complex-interacting protein (MRN-interacting protein)
Protein function Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex (PubMed:27568553). Promotes chromatin loading and activity of the MRN complex to facilitate s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15749 MRNIP 9 110 MRN-interacting protein Family
Sequence
MASLQRSRVLRCCSCRLFQAHQVKKSVKWTCKACGEKQSFLQAYGEGSGADCRRHVQKLN
LLQGQVSELPLRSLEETVSASEEENVGHQQAGNVKQQEKSQPSESRWLKY
LEKDSQELEL
EGTGVCFSKQPSSKMEEPGPRFSQDLPRKRKWSRSTVQPPCSRGVQDSGGSEVAWGPQKG
QAGLTWKVKQGSSPCLQENSADCSAGELRGPGKELWSPIQQVTATSSKWAQFVLPPRKSS
HVDSEQPRSLQRDPRPAGPAQAKQGTPRAQASREGLSRPTAAVQLPRATHPVTSGSERPC
GKTSWDARTPWAEGGPLVLEAQNPRPTRLCDLFITGEDFDDDV
Sequence length 343
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PAGET DISEASE OF BONE 3 Disgenet
★★☆☆☆
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
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis CLINVAR_DG 11992264, 15493999, 18765443, 19589897, 21195346, 21515589, 23417734, 23942205, 24042580, 24899140, 25241215
★☆☆☆☆
Found in Text Mining only
PAGET DISEASE OF BONE 3 Paget disease CLINVAR_DG 11992264, 15176995, 15493999, 15647816, 15765181, 16813535, 17229007, 18543015, 18765443, 19257822, 19589897, 20499339, 21195346, 21515589, 21878516
View all (6 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations