RBM28 (RNA binding motif protein 28)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612074 21863 ENSG00000106344
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
ALKEITTFEGCKINVTVAKKKLRNKTKEKGKNENSECPKKEPKAKKAKVADKKARLIIRN
LSFKCSEDDLKTVFAQFGAVLEVNIPRKPDGKMRGFGFVQFKNLLEAGKALKGMNMKEIK
GRTVAVDWAVAKDKYKDTQSVSAIGEEKSHESKHQESVKKKGREEEDMEEEENDDDDDDD
DEEDGVFDDEDEEEENIESKVTKPVQIQKRAVKRPAPAKSSDHSEEDSDLEESDSIDDGE
ELAQSDTSTEEQEDKAVQVSNKKKRKLPSDVNEGKTVFIRNLSFDSEEEELGELLQQFGE
LKYVRIVLHPDTEHSKGCAFAQFMTQEAAQKCLLAASPENEAGGLKLDGRQLKVDLAVTR
DEAAKLQTTKVKKPTGTRNLYLAREGLIRAGTKAAEGVSAADMAKRERFELLKHQKLKDQ
NIFVSRTRLCLHNLPKAVDDKQLRKLLLSATSGEKGVRIKECRVMRDLKGVHGNMKGQSL
GYAFAEFQEHEHALKALRLINNNPEIFGPLKRPIVEFSLEDRRKLKMKELRIQRSLQKMR
SKPATGEPQKGQPEPAKDQQQKAAQHHTEEQSKVPPEQKRKAGSTSWTGFQTKAEVEQVE
LPDGKKRRKVLALPSHRGPKIRLRDKGKVKPVHPKKPKPQINQWKQEKQQLSSEQVSRKK
AKGNKTETRFNQLVEQYKQKLLGPSKGAPLAKRSKWFDS
Sequence length 759
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANE syndrome Pathogenic; Likely pathogenic rs118204055, rs753705888, rs1427042125, rs1584663340 RCV000000768
RCV003486537
RCV000987969
RCV000987970
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs59848577 RCV005911991
Microcephaly Uncertain significance rs765780383 RCV001252701
Ovarian serous cystadenocarcinoma Conflicting classifications of pathogenicity rs138007655 RCV005903160
RBM28-related disorder Likely benign; Benign rs143664352, rs566624063, rs867307392, rs771503778, rs7804796, rs142674151, rs73230638, rs138112810, rs142393569 RCV003929172
RCV003929592
RCV003964685
RCV003933987
RCV003981323
RCV003935826
RCV003960828
RCV003920589
RCV003932842
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 18439547
Alopecia Neurologic Defects and Endocrinopathy Syndrome Associate 18439547, 27077951, 33941690
Heart Diseases Associate 18439547
Neoplasms Associate 34953860
Nervous System Malformations Associate 18439547