Gene Gene information from NCBI Gene database.
Entrez ID 55131
Gene name RNA binding motif protein 28
Gene symbol RBM28
Synonyms (NCBI Gene)
ANESNOP4
Chromosome 7
Chromosome location 7q32.1
Summary The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their trans
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs118204055 A>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs1427042125 C>A,G Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1584663340 C>- Pathogenic Coding sequence variant, intron variant, splice donor variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
631
miRTarBase ID miRNA Experiments Reference
MIRT023056 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT024023 hsa-miR-1-3p Proteomics 18668040
MIRT031952 hsa-miR-16-5p Proteomics 18668040
MIRT044943 hsa-miR-186-5p CLASH 23622248
MIRT724917 hsa-miR-34b-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 30021884, 33961781
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
612074 21863 ENSG00000106344
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NW13
Protein name RNA-binding protein 28 (RNA-binding motif protein 28)
Protein function Nucleolar component of the spliceosomal ribonucleoprotein complexes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 6 74 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 116 185 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 337 410 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:18439547}.
Sequence
MAGLTLFVGRLPPSARSEQLEELFSQVGPVKQCFVVTEKGSKACRGFGYVTFSMLEDVQR
ALKEITTFEGCKIN
VTVAKKKLRNKTKEKGKNENSECPKKEPKAKKAKVADKKARLIIRN
LSFKCSEDDLKTVFAQFGAVLEVNIPRKPDGKMRGFGFVQFKNLLEAGKALKGMNMKEIK
GRTVA
VDWAVAKDKYKDTQSVSAIGEEKSHESKHQESVKKKGREEEDMEEEENDDDDDDD
DEEDGVFDDEDEEEENIESKVTKPVQIQKRAVKRPAPAKSSDHSEEDSDLEESDSIDDGE
ELAQSDTSTEEQEDKAVQVSNKKKRKLPSDVNEGKTVFIRNLSFDSEEEELGELLQQFGE
LKYVRIVLHPDTEHSKGCAFAQFMTQEAAQKCLLAASPENEAGGLKLDGR
QLKVDLAVTR
DEAAKLQTTKVKKPTGTRNLYLAREGLIRAGTKAAEGVSAADMAKRERFELLKHQKLKDQ
NIFVSRTRLCLHNLPKAVDDKQLRKLLLSATSGEKGVRIKECRVMRDLKGVHGNMKGQSL
GYAFAEFQEHEHALKALRLINNNPEIFGPLKRPIVEFSLEDRRKLKMKELRIQRSLQKMR
SKPATGEPQKGQPEPAKDQQQKAAQHHTEEQSKVPPEQKRKAGSTSWTGFQTKAEVEQVE
LPDGKKRRKVLALPSHRGPKIRLRDKGKVKPVHPKKPKPQINQWKQEKQQLSSEQVSRKK
AKGNKTETRFNQLVEQYKQKLLGPSKGAPLAKRSKWFDS
Sequence length 759
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ANE syndrome Pathogenic; Likely pathogenic rs118204055, rs753705888, rs1427042125, rs1584663340 RCV000000768
RCV003486537
RCV000987969
RCV000987970
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Microcephaly Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RBM28-related disorder Likely benign; Benign ClinVar
★★☆☆☆
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
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Adrenocorticotropin deficient adrenal insufficiency Adrenocorticotropin deficient adrenal insufficiency HPO_DG
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 20231366
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia, Neurologic Defects, And Endocrinopathy Syndrome UNIPROT_DG 18439547
★☆☆☆☆
Found in Text Mining only
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia, Neurologic Defects, And Endocrinopathy Syndrome ORPHANET_DG 18439547
★☆☆☆☆
Found in Text Mining only
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia, Neurologic Defects, And Endocrinopathy Syndrome GENOMICS_ENGLAND_DG 18439547, 20231366
★☆☆☆☆
Found in Text Mining only
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia, Neurologic Defects, And Endocrinopathy Syndrome BEFREE 20231366, 25939713, 27077951
★☆☆☆☆
Found in Text Mining only
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia, Neurologic Defects, And Endocrinopathy Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia, Neurologic Defects, And Endocrinopathy Syndrome CLINVAR_DG
★☆☆☆☆
Found in Text Mining only