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... See more...

Aliases for RBM28 Gene

Aliases for RBM28 Gene

  • RNA Binding Motif Protein 28 2 3 5
  • RNA-Binding Protein 28 3 4
  • 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. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is CELF1.

UniProtKB/Swiss-Prot Summary for RBM28 Gene

Gene Wiki entry for RBM28 Gene

Additional gene information for RBM28 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBM28 Gene

Genomics for RBM28 Gene

GeneHancer (GH) Regulatory Elements for RBM28 Gene

Promoters and enhancers for RBM28 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J128341 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 767.3 +0.5 530 2.8 ZNF785 SIN3A ZNF24 SP1 ZBTB40 SIX5 LCORL ZBTB6 FOXA1 MLX RBM28 RF00066-179 RNU7-27P ENSG00000230715 ZNF800 ENSG00000243302 GCC1 ENSG00000243679 ENSG00000229413 ENSG00000224138
GH07J128737 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 37.4 -396.7 -396749 6.5 SIN3A ZBTB40 SP1 ZBTB6 SMARCE1 POLR2A USF2 NR2F6 ATF1 FOS CALU ENSG00000230715 ENSG00000242588 ENSG00000243302 ENSG00000243679 ENSG00000229413 OPN1SW NRF1 RBM28 ENSG00000238072
GH07J128360 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 44.7 -17.5 -17476 2 ZNF785 ZNF133 MYC ZNF701 MAX ZNF473 SP7 ZSCAN21 ZNF548 PRDM1 PRRT4 ENSG00000242588 RBM28 ZNF800 ENSG00000243679 ENSG00000230715 ENSG00000243302 FSCN3 GCC1 ENSG00000213280
GH07J129223 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 41.8 -881.9 -881888 4 ZNF785 SIN3A ZBTB40 SP1 SREBF1 SIX5 ZBTB6 MLX SMARCE1 RBPJ AHCYL2 RBM28 ENSG00000242588 NRF1 ENSG00000243302 ENSG00000230715 ENSG00000243679 RN7SL81P ENSG00000238072 TNPO3
GH07J129052 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 39.4 -710.5 -710488 4 E2F8 SIN3A ZNF24 SP1 ZBTB40 SIX5 RBPJ SMARCE1 POLR2A CTBP1 TNPO3 TPI1P2 lnc-TSPAN33-4 ENSG00000230715 ENSG00000243302 ENSG00000243679 ENSG00000242588 ENSG00000229413 NRF1 ENSG00000213280
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBM28 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBM28 gene promoter:
  • E47
  • Egr-2
  • HFH-1
  • IRF-7A
  • Pax-2
  • Pax-2a
  • POU2F1
  • POU2F1a
  • Sox9

Genomic Locations for RBM28 Gene

Genomic Locations for RBM28 Gene
chr7:128,297,685-128,343,913
(GRCh38/hg38)
Size:
46,229 bases
Orientation:
Minus strand
chr7:127,937,738-127,983,962
(GRCh37/hg19)
Size:
46,225 bases
Orientation:
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:
    Q9NW13-RBM28_HUMAN
    Recommended name:
    RNA-binding protein 28
    Protein Accession:
    Q9NW13
    Secondary Accessions:
    • A4D100
    • B4DU52
    • E9PDD9
    • Q53H65
    • Q96CV3

    Protein attributes for RBM28 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for RBM28 Gene

Post-translational modifications for RBM28 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RBM28 Gene

Domains & Families for RBM28 Gene

Gene Families for RBM28 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RBM28 Gene

GenScript: Design optimal peptide antigens:
  • RNA-binding motif protein 28 (RBM28_HUMAN)
genes like me logo Genes that share domains with RBM28: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBM28 Gene

Function for RBM28 Gene

Molecular function for RBM28 Gene

UniProtKB/Swiss-Prot Function:
Nucleolar component of the spliceosomal ribonucleoprotein complexes.

Phenotypes From GWAS Catalog for RBM28 Gene

Gene Ontology (GO) - Molecular Function for RBM28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with RBM28: view
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

CRISPR Products

miRNA for RBM28 Gene

miRTarBase miRNAs that target RBM28

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBM28 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBM28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005681 spliceosomal complex IEA --
GO:0005730 nucleolus IBA,IDA --
GO:1990904 ribonucleoprotein complex IBA 21873635
genes like me logo Genes that share ontologies with RBM28: view

Pathways & Interactions for RBM28 Gene

PathCards logo

SuperPathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with RBM28: view

No data available for SIGNOR curated interactions for RBM28 Gene

Drugs & Compounds for RBM28 Gene

No Compound Related Data Available

Transcripts for RBM28 Gene

mRNA/cDNA for RBM28 Gene

CRISPR Products

Clone Products

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: - -
SP3:
SP4: -
SP5: - - - -
SP6:
SP7: -

ExUns: 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for RBM28 Gene

GeneLoc Exon Structure for
RBM28
ECgene alternative splicing isoforms for
RBM28

Expression for RBM28 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RBM28 Gene



Protein tissue co-expression partners for RBM28 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBM28 Gene:

RBM28

SOURCE GeneReport for Unigene cluster for RBM28 Gene:

Hs.274263

mRNA Expression by UniProt/SwissProt for RBM28 Gene:

Q9NW13-RBM28_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for RBM28 Gene

  • Intestine(4.3)
  • Skin(4.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RBM28 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • mouth
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • lung
  • rib
  • rib cage
Abdomen:
  • adrenal gland
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RBM28: view

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
chimpanzee
(Pan troglodytes)
Mammalia RBM28 33 32
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RBM28 33 32
  • 88.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RBM28 33 32
  • 86.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rbm28 17 33 32
  • 83.44 (n)
rat
(Rattus norvegicus)
Mammalia Rbm28 32
  • 82.02 (n)
oppossum
(Monodelphis domestica)
Mammalia RBM28 33
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 65 (a)
OneToMany
-- 33
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RBM28 33
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm28 32
  • 62.9 (n)
Str.10982 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.1681 32
zebrafish
(Danio rerio)
Actinopterygii rbm28 33 32
  • 57.17 (n)
OneToOne
zgc56258 32
fruit fly
(Drosophila melanogaster)
Insecta CG4806 33
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rbm-28 33
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP4 35 33
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5106 33
  • 45 (a)
OneToOne
Species where no ortholog for RBM28 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for RBM28 (if available)
TreeFam:
Gene Tree for RBM28 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBM28: view image

Paralogs for RBM28 Gene

Paralogs for RBM28 Gene

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

  • RBM28_HUMAN
  • C9JAA9_HUMAN
  • C9JE21_HUMAN
  • H7C5G8_HUMAN
  • L8ECH6_HUMAN
genes like me logo Genes that share paralogs with RBM28: view

Variants for RBM28 Gene

Sequence variations from dbSNP and Humsavar for RBM28 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs118204055 pathogenic, Alopecia, neurologic defects, and endocrinopathy syndrome, Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079] 128,330,896(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs148028531 benign, not specified 128,310,804(-) T/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000002551 -- 128,334,758(-) C/G intron_variant
rs1000146744 -- 128,328,788(-) T/C intron_variant
rs1000155415 -- 128,322,789(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv2735136 CNV deletion 23290073
nsv1128365 CNV deletion 24896259
nsv608400 CNV loss 21841781
nsv819317 CNV loss 19587683
nsv831124 CNV gain+loss 17160897

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)

Additional Variant Information for RBM28 Gene

Human Gene Mutation Database (HGMD)
RBM28
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM28

SNP Genotyping and Copy Number Assay Products

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

Disorders for RBM28 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RBM28 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RBM28 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RBM28_HUMAN
  • 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.

Additional Disease Information for RBM28

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 (American journal of human genetics 2008) 3 4 56
  2. Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs. (PMID: 17081119) Damianov A … Bindereif A (Biological chemistry 2006) 3 4 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 56

Products for RBM28 Gene

Sources for RBM28 Gene