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Aliases for RBM48 Gene

Aliases for RBM48 Gene

  • RNA Binding Motif Protein 48 2 3 5
  • C7orf64 3 4
  • Chromosome 7 Open Reading Frame 64 2
  • UPF0712 Protein C7orf64 3
  • RNA-Binding Protein 48 3
  • HSPC304 3

External Ids for RBM48 Gene

Previous HGNC Symbols for RBM48 Gene

  • C7orf64

Previous GeneCards Identifiers for RBM48 Gene

  • GC07P092159

Summaries for RBM48 Gene

GeneCards Summary for RBM48 Gene

RBM48 (RNA Binding Motif Protein 48) is a Protein Coding gene. Diseases associated with RBM48 include Polycystic Kidney Disease 4, With Or Without Hepatic Disease. GO annotations related to this gene include RNA binding and nucleotide binding.

Additional gene information for RBM48 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBM48 Gene

Genomics for RBM48 Gene

Regulatory Elements for RBM48 Gene

Enhancers for RBM48 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H092527 1.5 FANTOM5 ENCODE 49 -0.3 -321 2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 PEX1 RBM48 FAM133B KRIT1 ENSG00000243107 GATAD1 CDK6 AKAP9 GC07M092508
GH07H092588 1.4 ENCODE dbSUPER 17.6 +61.2 61179 2 HDGF ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 PEX1 ENSG00000243107 KRIT1 GATAD1 FAM133B RBM48 ANKIB1 AKAP9 ERVW-1 MTERF1
GH07H092586 0.9 ENCODE dbSUPER 10.4 +57.9 57920 0 GATAD2A PKNOX1 HLF CEBPB FEZF1 EBF1 CEBPG EP300 ZNF843 ATF2 PEX1 RBM48 FAM133B GC07P092561
GH07H092530 0.9 dbSUPER 8.6 +5.4 5374 6 PKNOX1 INSM2 ZNF76 FEZF1 ZNF2 ZNF366 ZSCAN5C ZNF391 ZNF362 OVOL3 GATAD1 KRIT1 MTERF1 ENSG00000243107 FAM133B PEX1 ERVW-1 RBM48 GC07P092539
GH07H092602 0.7 ENCODE dbSUPER 10.1 +73.9 73870 0 CEBPB CHD7 RBM48 PEX1 LOC105375397 GC07M092611
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBM48 on UCSC Golden Path with GeneCards custom track

Promoters for RBM48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215089 -292 2001 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for RBM48 Gene

Chromosome:
7
Start:
92,528,692 bp from pter
End:
92,539,405 bp from pter
Size:
10,714 bases
Orientation:
Plus strand

Genomic View for RBM48 Gene

Genes around RBM48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM48 Gene

Proteins for RBM48 Gene

  • Protein details for RBM48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5RL73-RBM48_HUMAN
    Recommended name:
    RNA-binding protein 48
    Protein Accession:
    Q5RL73
    Secondary Accessions:
    • B7Z2K5
    • B7ZL51
    • Q5H9T2
    • Q8IYW7
    • Q96NS0
    • Q9H0V7

    Protein attributes for RBM48 Gene

    Size:
    367 amino acids
    Molecular mass:
    41808 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH33561.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB70806.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66554.1; Type=Frameshift; Positions=341; Evidence={ECO:0000305}; Sequence=CAI45942.1; Type=Erroneous translation; Note=The protein sequence does not correspond to the translation of the nucleic acid sequence.; Evidence={ECO:0000305}; Sequence=EAL24148.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for RBM48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBM48 Gene

Post-translational modifications for RBM48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM48 Gene

No data available for DME Specific Peptides for RBM48 Gene

Domains & Families for RBM48 Gene

Gene Families for RBM48 Gene

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

Protein Domains for RBM48 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBM48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5RL73

UniProtKB/Swiss-Prot:

RBM48_HUMAN :
  • Belongs to the RBM48 family.
Family:
  • Belongs to the RBM48 family.
genes like me logo Genes that share domains with RBM48: view

Function for RBM48 Gene

Phenotypes From GWAS Catalog for RBM48 Gene

Gene Ontology (GO) - Molecular Function for RBM48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with RBM48: view
genes like me logo Genes that share phenotypes with RBM48: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RBM48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM48 Gene

Localization for RBM48 Gene

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 RBM48 gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBM48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with RBM48: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RBM48 Gene

Pathways & Interactions for RBM48 Gene

SuperPathways for RBM48 Gene

No Data Available

Interacting Proteins for RBM48 Gene

Gene Ontology (GO) - Biological Process for RBM48 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RBM48 Gene

Drugs & Compounds for RBM48 Gene

No Compound Related Data Available

Transcripts for RBM48 Gene

Unigene Clusters for RBM48 Gene

RNA binding motif protein 48:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RBM48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RBM48 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5
SP1: -
SP2:
SP3:

Relevant External Links for RBM48 Gene

GeneLoc Exon Structure for
RBM48
ECgene alternative splicing isoforms for
RBM48

Expression for RBM48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBM48 Gene

Protein differential expression in normal tissues from HIPED for RBM48 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RBM48 Gene



Protein tissue co-expression partners for RBM48 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBM48 Gene:

RBM48

SOURCE GeneReport for Unigene cluster for RBM48 Gene:

Hs.21590

Evidence on tissue expression from TISSUES for RBM48 Gene

  • Nervous system(4.5)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with RBM48: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBM48 Gene

Orthologs for RBM48 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBM48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBM48 33 34
  • 98.73 (n)
dog
(Canis familiaris)
Mammalia RBM48 33 34
  • 87.92 (n)
cow
(Bos Taurus)
Mammalia RBM48 33 34
  • 83.79 (n)
rat
(Rattus norvegicus)
Mammalia Rbm48 33
  • 79.47 (n)
mouse
(Mus musculus)
Mammalia Rbm48 33 16 34
  • 78.38 (n)
oppossum
(Monodelphis domestica)
Mammalia RBM48 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBM48 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H7ORF64 33
  • 60.02 (n)
RBM48 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBM48 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm48 33
  • 57.75 (n)
Str.3657 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9219 33
zebrafish
(Danio rerio)
Actinopterygii rbm48 33 34
  • 54.7 (n)
Dr.23171 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3492 33
fruit fly
(Drosophila melanogaster)
Insecta CG34231 33 34
  • 50.63 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003741 33
  • 46.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToOne
Species where no ortholog for RBM48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RBM48 Gene

ENSEMBL:
Gene Tree for RBM48 (if available)
TreeFam:
Gene Tree for RBM48 (if available)

Paralogs for RBM48 Gene

(2) SIMAP similar genes for RBM48 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for RBM48 Gene

genes like me logo Genes that share paralogs with RBM48: view

No data available for Paralogs for RBM48 Gene

Variants for RBM48 Gene

Sequence variations from dbSNP and Humsavar for RBM48 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs766020928 Pathogenic 92,528,434(+) CCCAC(A/C/G)TCGTC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1057517501 Likely pathogenic 92,528,435(-) GGACG(A/T)TGTGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs786204704 Likely pathogenic 92,528,433(-) ACGAT(A/G)TGGGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs12386601 Likely benign 92,528,572(+) TGCGC(A/G)TCCTG upstream-variant-2KB
rs12386703 Likely benign 92,528,488(+) ACCCG(C/G)GACCC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for RBM48 Gene

Variant ID Type Subtype PubMed ID
nsv5841 CNV insertion 18451855

Variation tolerance for RBM48 Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBM48 Gene

Human Gene Mutation Database (HGMD)
RBM48
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM48 Gene

Disorders for RBM48 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RBM48 Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search RBM48 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBM48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBM48
genes like me logo Genes that share disorders with RBM48: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBM48 Gene

Publications for RBM48 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Gene essentiality and synthetic lethality in haploid human cells. (PMID: 26472760) Blomen VA … Brummelkamp TR (Science (New York, N.Y.) 2015) 3 60
  5. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A … Wanker EE (Science signaling 2011) 3 60

Products for RBM48 Gene

Sources for RBM48 Gene

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