Aliases for RHNO1 Gene

Aliases for RHNO1 Gene

  • RAD9-HUS1-RAD1 Interacting Nuclear Orphan 1 2 3 5
  • RAD9, HUS1, RAD1-Interacting Nuclear Orphan Protein 1 3 4
  • RAD9, RAD1, HUS1-Interacting Nuclear Orphan Protein 3 4
  • Rad9, Rad1, Hus1 Interacting Nuclear Orphan 2 3
  • C12orf32 3 4
  • RHINO 3 4
  • Chromosome 12 Open Reading Frame 32 2
  • HKMT1188 3

External Ids for RHNO1 Gene

Previous HGNC Symbols for RHNO1 Gene

  • C12orf32

Previous GeneCards Identifiers for RHNO1 Gene

  • GC12P002988
  • GC12P002985

Summaries for RHNO1 Gene

GeneCards Summary for RHNO1 Gene

RHNO1 (RAD9-HUS1-RAD1 Interacting Nuclear Orphan 1) is a Protein Coding gene. Diseases associated with RHNO1 include Cavernous Sinus Thrombosis and Intracranial Sinus Thrombosis. Among its related pathways are DNA Double-Strand Break Repair and Gene Expression.

UniProtKB/Swiss-Prot Summary for RHNO1 Gene

  • Plays a role in DNA damage response (DDR) signaling upon genotoxic stresses such as ionizing radiation (IR) during the S phase. Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner. Required for the progression of the G1 to S phase transition. Plays a role in the stimulation of CHEK1 phosphorylation.

Additional gene information for RHNO1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHNO1 Gene

Genomics for RHNO1 Gene

GeneHancer (GH) Regulatory Elements for RHNO1 Gene

Promoters and enhancers for RHNO1 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
GH12J002876 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 524.5 +1.1 1108 3.9 ZSCAN5C SIN3A POLR2G USF1 GTF2E2 PHF8 TEAD4 ZFX ZNF10 POLR2A TULP3 RHNO1 FOXM1 ITFG2 CBX3P4 DCP1B NRIP2 ENSG00000227081 IQSEC3P1 FKBP4
GH12J002888 Promoter 0.3 EPDnew 500.4 +12.5 12468 0.1 piR-37590 piR-43316 RHNO1 NRIP2 piR-50437-097 TULP3
GH12J002889 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.6 +15.4 15408 4.2 ZBTB40 ZSCAN5C SIN3A NRF1 POLR2G SP1 PHF8 JUND TEAD4 FOS TULP3 RHNO1 NRIP2 ITFG2 piR-37590 piR-50437-097
GH12J002885 Enhancer 1 Ensembl ENCODE 24 +8.9 8935 1.6 CTCF ZSCAN5C USF1 REST RAD21 CTBP1 TRIM22 SMC3 MXI1 ZSCAN9 ENSG00000278356 RHNO1 NRIP2 ITFG2 FKBP4 TULP3
GH12J003030 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +156.3 156331 4.5 CTCF ZNF10 REST RAD21 SMC3 ZNF341 ZBTB17 POLR2A RBM22 PKNOX1 TSPAN9 NRIP2 FOXM1 RHNO1 TULP3 ITFG2 FKBP4 ENSG00000250899 TEAD4 lnc-FOXM1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RHNO1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHNO1

Genomic Locations for RHNO1 Gene

Genomic Locations for RHNO1 Gene
chr12:2,876,258-2,889,525
(GRCh38/hg38)
Size:
13,268 bases
Orientation:
Plus strand
chr12:2,985,424-2,998,626
(GRCh37/hg19)
Size:
13,203 bases
Orientation:
Plus strand

Genomic View for RHNO1 Gene

Genes around RHNO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHNO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHNO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHNO1 Gene

Proteins for RHNO1 Gene

  • Protein details for RHNO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSD3-RHNO1_HUMAN
    Recommended name:
    RAD9, HUS1, RAD1-interacting nuclear orphan protein 1
    Protein Accession:
    Q9BSD3
    Secondary Accessions:
    • B7Z989

    Protein attributes for RHNO1 Gene

    Size:
    238 amino acids
    Molecular mass:
    26709 Da
    Quaternary structure:
    • Interacts with RAD9A, RAD18, TOPBP1 and UBE2N.

    Alternative splice isoforms for RHNO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHNO1 Gene

Post-translational modifications for RHNO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RHNO1 Gene

Domains & Families for RHNO1 Gene

Gene Families for RHNO1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RHNO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RHNO1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52845 (B7Z989_HUMAN)
genes like me logo Genes that share domains with RHNO1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RHNO1 Gene

Function for RHNO1 Gene

Molecular function for RHNO1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in DNA damage response (DDR) signaling upon genotoxic stresses such as ionizing radiation (IR) during the S phase. Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner. Required for the progression of the G1 to S phase transition. Plays a role in the stimulation of CHEK1 phosphorylation.
UniProtKB/Swiss-Prot Induction:
Up-regulated in breast cancer cells.

Phenotypes From GWAS Catalog for RHNO1 Gene

Gene Ontology (GO) - Molecular Function for RHNO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21659603
genes like me logo Genes that share ontologies with RHNO1: view
genes like me logo Genes that share phenotypes with RHNO1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RHNO1 Gene

Localization for RHNO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHNO1 Gene

Nucleus. Chromosome. Note=Localizes to sites of DNA damage in a H2AX-independent manner.

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 RHNO1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RHNO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20811708
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA,IDA 21659603
genes like me logo Genes that share ontologies with RHNO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RHNO1 Gene

Pathways & Interactions for RHNO1 Gene

genes like me logo Genes that share pathways with RHNO1: view

Pathways by source for RHNO1 Gene

Gene Ontology (GO) - Biological Process for RHNO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IMP 21659603
GO:0000725 recombinational repair IMP 21659603
GO:0006260 DNA replication TAS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with RHNO1: view

No data available for SIGNOR curated interactions for RHNO1 Gene

Drugs & Compounds for RHNO1 Gene

No Compound Related Data Available

Transcripts for RHNO1 Gene

mRNA/cDNA for RHNO1 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHNO1 Gene

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

Relevant External Links for RHNO1 Gene

GeneLoc Exon Structure for
RHNO1

Expression for RHNO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RHNO1 Gene

Protein differential expression in normal tissues from HIPED for RHNO1 Gene

This gene is overexpressed in Urine (35.8) and Plasma (33.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RHNO1 Gene



Protein tissue co-expression partners for RHNO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHNO1

SOURCE GeneReport for Unigene cluster for RHNO1 Gene:

Hs.198853

mRNA Expression by UniProt/SwissProt for RHNO1 Gene:

Q9BSD3-RHNO1_HUMAN
Tissue specificity: Weakly expressed in testis, prostate, ovary, thymus and small intestine. Expressed strongly in breast cancer cells.

Evidence on tissue expression from TISSUES for RHNO1 Gene

  • Pancreas(4.2)
  • Nervous system(4.1)
  • Skin(2.7)
  • Lung(2)
genes like me logo Genes that share expression patterns with RHNO1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHNO1 Gene

Orthologs for RHNO1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RHNO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHNO1 31 30
  • 99.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RHNO1 31 30
  • 80.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RHNO1 31 30
  • 79.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rhno1 31
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHNO1 31
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHNO1 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves C12ORF32 31 30
  • 51.53 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhno1 30
  • 48.51 (n)
Species where no ortholog for RHNO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • zebrafish (Danio rerio)

Evolution for RHNO1 Gene

ENSEMBL:
Gene Tree for RHNO1 (if available)
TreeFam:
Gene Tree for RHNO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RHNO1: view image

Paralogs for RHNO1 Gene

No data available for Paralogs for RHNO1 Gene

Variants for RHNO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHNO1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
711715 Likely Benign: not provided 2,885,388(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
717229 Likely Benign: not provided 2,887,992(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for RHNO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RHNO1 Gene

Variant ID Type Subtype PubMed ID
dgv19n68 CNV loss 17160897
esv2667649 CNV deletion 23128226
esv3158055 CNV deletion 24192839
esv3628321 CNV gain 21293372
esv3628325 CNV loss 21293372
esv3628326 CNV gain 21293372
nsv1069634 CNV deletion 25765185
nsv1144604 CNV deletion 24896259
nsv516944 CNV loss 19592680
nsv832311 CNV loss 17160897

Variation tolerance for RHNO1 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHNO1 Gene

Human Gene Mutation Database (HGMD)
RHNO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHNO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHNO1 Gene

Disorders for RHNO1 Gene

MalaCards: The human disease database

(50) MalaCards diseases for RHNO1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cavernous sinus thrombosis
  • thrombosis of cavernous venous sinus
intracranial sinus thrombosis
  • sinus thrombosis, intracranial
acute orbital inflammation
  • acute inflammation of orbit
multiple cranial nerve palsy
  • multiple cranial nerve palsies
sphenoid sinusitis
  • sphenoidal sinusitis
- elite association - COSMIC cancer census association via MalaCards
Search RHNO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RHNO1

genes like me logo Genes that share disorders with RHNO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHNO1 Gene

Publications for RHNO1 Gene

  1. A DNA damage response screen identifies RHINO, a 9-1-1 and TopBP1 interacting protein required for ATR signaling. (PMID: 21659603) Cotta-Ramusino C … Elledge SJ (Science (New York, N.Y.) 2011) 2 3 4 54
  2. Involvement of C12orf32 overexpression in breast carcinogenesis. (PMID: 20811708) Kim JW … Nakamura Y (International journal of oncology 2010) 2 3 4 54
  3. 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 54
  4. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for RHNO1 Gene

Sources for RHNO1 Gene