Aliases for RRP12 Gene

Aliases for RRP12 Gene

  • Ribosomal RNA Processing 12 Homolog 2 3 5
  • KIAA0690 2 3 4
  • RRP12-Like Protein 3 4
  • Ribosomal RNA Processing 12 Homolog (S. Cerevisiae) 2

External Ids for RRP12 Gene

Previous HGNC Symbols for RRP12 Gene

  • KIAA0690

Previous GeneCards Identifiers for RRP12 Gene

  • GC10M099107
  • GC10M092741

Summaries for RRP12 Gene

GeneCards Summary for RRP12 Gene

RRP12 (Ribosomal RNA Processing 12 Homolog) is a Protein Coding gene. Diseases associated with RRP12 include Lymph Node Cancer. Gene Ontology (GO) annotations related to this gene include binding.

Gene Wiki entry for RRP12 Gene

Additional gene information for RRP12 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RRP12 Gene

Genomics for RRP12 Gene

GeneHancer (GH) Regulatory Elements for RRP12 Gene

Promoters and enhancers for RRP12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RRP12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RRP12

Top Transcription factor binding sites by QIAGEN in the RRP12 gene promoter:
  • AP-4
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • IRF-2
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2

Genomic Locations for RRP12 Gene

Genomic Locations for RRP12 Gene
chr10:97,356,358-97,426,076
(GRCh38/hg38)
Size:
69,719 bases
Orientation:
Minus strand
chr10:99,116,115-99,161,127
(GRCh37/hg19)
Size:
45,013 bases
Orientation:
Minus strand

Genomic View for RRP12 Gene

Genes around RRP12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRP12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RRP12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRP12 Gene

Proteins for RRP12 Gene

  • Protein details for RRP12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JTH9-RRP12_HUMAN
    Recommended name:
    RRP12-like protein
    Protein Accession:
    Q5JTH9
    Secondary Accessions:
    • B4DK00
    • E9PCK7
    • Q5JTH8
    • Q69YK4
    • Q96E87
    • Q9BUH3
    • Q9Y4C7

    Protein attributes for RRP12 Gene

    Size:
    1297 amino acids
    Molecular mass:
    143702 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31665.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RRP12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RRP12 Gene

Post-translational modifications for RRP12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RRP12 Gene

Domains & Families for RRP12 Gene

Gene Families for RRP12 Gene

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

Protein Domains for RRP12 Gene

Blocks:
  • HEAT repeat
  • Protein of unknown function, NUC173
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RRP12 Gene

GenScript: Design optimal peptide antigens:
  • RRP12-like protein (RRP12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5JTH9

UniProtKB/Swiss-Prot:

RRP12_HUMAN :
  • Belongs to the RRP12 family.
Family:
  • Belongs to the RRP12 family.
genes like me logo Genes that share domains with RRP12: view

Function for RRP12 Gene

Phenotypes From GWAS Catalog for RRP12 Gene

Gene Ontology (GO) - Molecular Function for RRP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with RRP12: view
genes like me logo Genes that share phenotypes with RRP12: view

Animal Model Products

CRISPR Products

miRNA for RRP12 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRP12

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RRP12 Gene

Localization for RRP12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRP12 Gene

Nucleus, nucleolus. Nucleus membrane; Single-pass membrane protein.

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 RRP12 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 4
mitochondrion 2
extracellular 1
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Plasma membrane (3)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RRP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA,IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RRP12: view

Pathways & Interactions for RRP12 Gene

PathCards logo

SuperPathways for RRP12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RRP12 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RRP12 Gene

Drugs & Compounds for RRP12 Gene

No Compound Related Data Available

Transcripts for RRP12 Gene

mRNA/cDNA for RRP12 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRP12

Alternative Splicing Database (ASD) splice patterns (SP) for RRP12 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17a · 17b ^
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6: - -
SP7:
SP8: -
SP9:

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21a · 21b
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for RRP12 Gene

GeneLoc Exon Structure for
RRP12

Expression for RRP12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RRP12 Gene

mRNA differential expression in normal tissues according to GTEx for RRP12 Gene

This gene is overexpressed in Whole Blood (x4.9) and Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for RRP12 Gene

This gene is overexpressed in Bone (11.8) and Peripheral blood mononuclear cells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RRP12 Gene



Protein tissue co-expression partners for RRP12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RRP12

SOURCE GeneReport for Unigene cluster for RRP12 Gene:

Hs.434251

mRNA Expression by UniProt/SwissProt for RRP12 Gene:

Q5JTH9-RRP12_HUMAN
Tissue specificity: Weakly expressed. Expressed at intermediate level in testis and ovary.

Evidence on tissue expression from TISSUES for RRP12 Gene

  • Nervous system(4.7)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with RRP12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for RRP12 Gene

Orthologs for RRP12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RRP12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RRP12 31 30
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RRP12 31 30
  • 89.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RRP12 31 30
  • 87.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rrp12 17 31 30
  • 87.1 (n)
rat
(Rattus norvegicus)
Mammalia Rrp12 30
  • 86.89 (n)
oppossum
(Monodelphis domestica)
Mammalia RRP12 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRP12 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves RRP12 31 30
  • 73.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RRP12 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rrp12 30
  • 66.56 (n)
zebrafish
(Danio rerio)
Actinopterygii rrp12 31 30
  • 63.98 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002961 30
  • 46.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2691 31 30
  • 46.05 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y46E12BL.2 31 30
  • 42.72 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL014C 30
  • 40.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27269g 30
  • 40.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP12 33 31 30
  • 38.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G34357 30
  • 40.66 (n)
rice
(Oryza sativa)
Liliopsida Os02g0782100 30
  • 41.31 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01675 30
  • 44.98 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for RRP12 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RRP12 Gene

ENSEMBL:
Gene Tree for RRP12 (if available)
TreeFam:
Gene Tree for RRP12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RRP12: view image

Paralogs for RRP12 Gene

No data available for Paralogs for RRP12 Gene

Variants for RRP12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RRP12 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
718551 Benign: not provided 97,380,819(-) C/T MISSENSE_VARIANT
729563 Likely Benign: not provided 97,372,752(-) T/C MISSENSE_VARIANT
776533 Benign: not provided 97,370,998(-) G/A SYNONYMOUS_VARIANT
rs1048445 - p.Arg1281Gln
rs2275580 - p.Gly1145Ser

Additional dbSNP identifiers (rs#s) for RRP12 Gene

Structural Variations from Database of Genomic Variants (DGV) for RRP12 Gene

Variant ID Type Subtype PubMed ID
dgv119n27 CNV loss 19166990
dgv1369n54 CNV loss 21841781
esv2739884 CNV deletion 23290073
esv2739895 CNV deletion 23290073
nsv1110852 OTHER inversion 24896259
nsv467440 CNV loss 19166990
nsv552025 CNV loss 21841781
nsv825535 CNV gain 20364138
nsv831952 CNV loss 17160897
nsv948157 CNV duplication 23825009

Variation tolerance for RRP12 Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.30; 98.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRP12 Gene

Human Gene Mutation Database (HGMD)
RRP12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRP12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RRP12 Gene

Disorders for RRP12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RRP12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lymph node cancer
  • lymph node neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search RRP12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RRP12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RRP12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RRP12 Gene

Publications for RRP12 Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  2. Visualizing late states of human 40S ribosomal subunit maturation. (PMID: 29875412) Ameismeier M … Beckmann R (Nature 2018) 2 3 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54

Products for RRP12 Gene

Sources for RRP12 Gene