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Aliases for RBM28 Gene

Aliases for RBM28 Gene

  • RNA Binding Motif Protein 28 2 3 5
  • RNA-Binding Motif Protein 28 4
  • 2810480G15Rik 3
  • ANES 3

External Ids for RBM28 Gene

Previous GeneCards Identifiers for RBM28 Gene

  • GC07M127505
  • GC07M127545
  • GC07M127737
  • GC07M127951
  • GC07M122311
  • GC07M127939

Summaries for RBM28 Gene

Entrez Gene Summary for RBM28 Gene

  • 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 transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for RBM28 Gene

RBM28 (RNA Binding Motif Protein 28) is a Protein Coding gene. Diseases associated with RBM28 include Alopecia, Neurologic Defects, And Endocrinopathy Syndrome and Alopecia. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for RBM28 Gene

  • Nucleolar component of the spliceosomal ribonucleoprotein complexes.

Gene Wiki entry for RBM28 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBM28 Gene

Genomics for RBM28 Gene

Regulatory Elements for RBM28 Gene

Enhancers for RBM28 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RBM28 on UCSC Golden Path with GeneCards custom track

Promoters for RBM28 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBM28 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBM28 Gene

128,297,685 bp from pter
128,343,913 bp from pter
46,229 bases
Minus strand

Genomic View for RBM28 Gene

Genes around RBM28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM28 Gene

Proteins for RBM28 Gene

  • Protein details for RBM28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    RNA-binding protein 28
    Protein Accession:
    Secondary Accessions:
    • A4D100
    • B4DU52
    • E9PDD9
    • Q53H65
    • Q96CV3

    Protein attributes for RBM28 Gene

    759 amino acids
    Molecular mass:
    85738 Da
    Quaternary structure:
    • Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs).

    Alternative splice isoforms for RBM28 Gene


neXtProt entry for RBM28 Gene

Proteomics data for RBM28 Gene at MOPED

Post-translational modifications for RBM28 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM28 Gene

No data available for DME Specific Peptides for RBM28 Gene

Domains & Families for RBM28 Gene

Gene Families for RBM28 Gene

Protein Domains for RBM28 Gene

Suggested Antigen Peptide Sequences for RBM28 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 4 RRM (RNA recognition motif) domains.
  • Contains 4 RRM (RNA recognition motif) domains.
genes like me logo Genes that share domains with RBM28: view

Function for RBM28 Gene

Molecular function for RBM28 Gene

UniProtKB/Swiss-Prot Function:
Nucleolar component of the spliceosomal ribonucleoprotein complexes.
genes like me logo Genes that share phenotypes with RBM28: view

Human Phenotype Ontology for RBM28 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RBM28 Gene

miRTarBase miRNAs that target RBM28

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM28 Gene

Localization for RBM28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM28 Gene

Nucleus, nucleolus.

Subcellular locations from

Jensen Localization Image for RBM28 Gene COMPARTMENTS Subcellular localization image for RBM28 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for RBM28 Gene

Pathways & Interactions for RBM28 Gene

genes like me logo Genes that share pathways with RBM28: view

Pathways by source for RBM28 Gene

1 KEGG pathway for RBM28 Gene

Gene Ontology (GO) - Biological Process for RBM28 Gene


No data available for SIGNOR curated interactions for RBM28 Gene

Drugs & Compounds for RBM28 Gene

No Compound Related Data Available

Transcripts for RBM28 Gene

Unigene Clusters for RBM28 Gene

RNA binding motif protein 28:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBM28 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^
SP1: - - -
SP2: - -
SP4: -
SP5: - - - -
SP7: -

ExUns: 19 ^ 20

Relevant External Links for RBM28 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RBM28 Gene

mRNA expression in normal human tissues for RBM28 Gene

Protein differential expression in normal tissues from HIPED for RBM28 Gene

This gene is overexpressed in Lung (32.3) and Peripheral blood mononuclear cells (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RBM28 Gene

SOURCE GeneReport for Unigene cluster for RBM28 Gene Hs.274263

mRNA Expression by UniProt/SwissProt for RBM28 Gene

Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with RBM28: view

Protein tissue co-expression partners for RBM28 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RBM28 Gene

Orthologs for RBM28 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RBM28 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia RBM28 35
  • 86.39 (n)
  • 84.1 (a)
RBM28 36
  • 85 (a)
(Canis familiaris)
Mammalia RBM28 35
  • 88.56 (n)
  • 86.78 (a)
RBM28 36
  • 86 (a)
(Mus musculus)
Mammalia Rbm28 35
  • 83.44 (n)
  • 82.2 (a)
Rbm28 16
Rbm28 36
  • 81 (a)
(Pan troglodytes)
Mammalia RBM28 35
  • 99.6 (n)
  • 99.6 (a)
RBM28 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Rbm28 35
  • 82.02 (n)
  • 79.77 (a)
(Monodelphis domestica)
Mammalia RBM28 36
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
-- 36
  • 56 (a)
(Anolis carolinensis)
Reptilia RBM28 36
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm28 35
  • 62.9 (n)
  • 62.04 (a)
Str.10982 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1681 35
(Danio rerio)
Actinopterygii rbm28 35
  • 57.17 (n)
  • 50.92 (a)
zgc56258 35
rbm28 36
  • 45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4806 36
  • 33 (a)
(Caenorhabditis elegans)
Secernentea rbm-28 36
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP4 36
  • 27 (a)
NOP4 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5106 36
  • 45 (a)
Species with no ortholog for RBM28:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBM28 Gene

Gene Tree for RBM28 (if available)
Gene Tree for RBM28 (if available)

Paralogs for RBM28 Gene

(2) SIMAP similar genes for RBM28 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RBM28: view

No data available for Paralogs for RBM28 Gene

Variants for RBM28 Gene

Sequence variations from dbSNP and Humsavar for RBM28 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs11554671 - 128,335,899(-) ATGAA(C/G)AGGAA nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_045655 Alopecia, neurologic defects, and endocrinopathy syndrome (ANES)
rs989406 -- 128,333,210(-) CACTA(C/G)TTCTG intron-variant
rs6959976 -- 128,325,192(+) CCTCA(C/T)AATAT intron-variant
rs6960964 -- 128,319,853(+) gaatc(A/G)tctga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBM28 Gene

Variant ID Type Subtype PubMed ID
esv2735136 CNV Deletion 23290073
nsv819317 CNV Loss 19587683
nsv831124 CNV Gain+Loss 17160897
nsv889191 CNV Loss 21882294

Variation tolerance for RBM28 Gene

Residual Variation Intolerance Score: 69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.25; 70.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBM28 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM28 Gene

Disorders for RBM28 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RBM28 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alopecia, neurologic defects, and endocrinopathy syndrome
  • ane syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RBM28 in MalaCards View complete list of genes associated with diseases


  • Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079]: Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. {ECO:0000269 PubMed:18439547}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RBM28

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RBM28: view

No data available for Genatlas for RBM28 Gene

Publications for RBM28 Gene

  1. Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. (PMID: 18439547) Nousbeck J. … Sprecher E. (Am. J. Hum. Genet. 2008) 3 4 67
  2. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3
  3. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3
  4. FBXW7 modulates cellular stress response and metastatic potential through a88HSF1 post-translational modification. (PMID: 25720964) Kourtis N. … Aifantis I. (Nat. Cell Biol. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for RBM28 Gene

Sources for RBM28 Gene