Gene Gene information from NCBI Gene database.
Entrez ID 84549
Gene name MAK16 homolog
Gene symbol MAK16
Synonyms (NCBI Gene)
MAK16LRBM13
Chromosome 8
Chromosome location 8p12
miRNA miRNA information provided by mirtarbase database.
516
miRTarBase ID miRNA Experiments Reference
MIRT028513 hsa-miR-30a-5p Proteomics 18668040
MIRT030563 hsa-miR-24-3p Microarray 19748357
MIRT046665 hsa-miR-222-3p CLASH 23622248
MIRT713794 hsa-miR-3680-5p HITS-CLIP 19536157
MIRT713793 hsa-miR-508-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000460 Process Maturation of 5.8S rRNA IBA
GO:0000470 Process Maturation of LSU-rRNA IBA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 28514442, 32296183
GO:0005634 Component Nucleus IEA
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.
Q9BXY0
Protein name Protein MAK16 homolog (NNP78) (Protein RBM13)
PDB 8FKP , 8FKR , 8FKT , 8FKV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01778 Ribosomal_L28e 6 119 Ribosomal L28e protein family Family
PF04874 Mak16 138 236 Mak16 protein C-terminal region Family
Sequence
Sequence length 300
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39 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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 19781077, 19833869, 20133711, 22055719, 22957047, 23042786, 24262168, 24840975, 24899262, 24920338, 25239623, 25429138, 26330466, 26895297, 28549443
View all (6 more)
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 19781077
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis BEFREE 23046583
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30340104
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 30340104
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19728080, 24840202
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 14562043
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 12644826, 15205328, 24722255, 28038443
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 20727170, 26717985, 31462944
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 24960161
★☆☆☆☆
Found in Text Mining only