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Aliases for CSRNP2 Gene

Aliases for CSRNP2 Gene

  • Cysteine And Serine Rich Nuclear Protein 2 2 3 5
  • Family With Sequence Similarity 130, Member A1 2 3
  • Protein Phosphatase 1, Regulatory Subunit 72 2 3
  • TGF-Beta-Induced Apoptosis Protein 12 3 4
  • C12orf22 3 4
  • FAM130A1 3 4
  • CSRNP-2 3 4
  • TAIP-12 3 4
  • Cysteine-Serine-Rich Nuclear Protein 2 2
  • Cysteine/Serine-Rich Nuclear Protein 2 3
  • Chromosome 12 Open Reading Frame 22 2
  • Protein FAM130A1 4
  • C12orf2 3
  • PPP1R72 3
  • TAIP12 4

External Ids for CSRNP2 Gene

Previous HGNC Symbols for CSRNP2 Gene

  • C12orf22
  • FAM130A1

Previous GeneCards Identifiers for CSRNP2 Gene

  • GC12M049743
  • GC12M051454
  • GC12M048487

Summaries for CSRNP2 Gene

Entrez Gene Summary for CSRNP2 Gene

  • The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for CSRNP2 Gene

CSRNP2 (Cysteine And Serine Rich Nuclear Protein 2) is a Protein Coding gene. Diseases associated with CSRNP2 include Retinitis Pigmentosa 4. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is CSRNP3.

UniProtKB/Swiss-Prot for CSRNP2 Gene

  • Binds to the consensus sequence 5-AGAGTG-3 and has transcriptional activator activity (By similarity). May play a role in apoptosis.

Additional gene information for CSRNP2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSRNP2 Gene

Genomics for CSRNP2 Gene

GeneHancer (GH) Regulatory Elements for CSRNP2 Gene

Promoters and enhancers for CSRNP2 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
GH12I051081 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 560 +0.6 553 2.3 HDGF ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF213 ZNF143 KLF13 CSRNP2 PIR36826 HNRNPA3P10 SMARCD1 LETMD1 TFCP2 LIMA1 ATF1 GC12M051084
GH12I051084 Enhancer 0.2 Ensembl 550.8 -1.0 -1030 0.2 CSRNP2 GC12M051084
GH12I051019 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 26.8 +59.1 59106 11.1 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SLC11A2 SMARCD1 HNRNPA3P10 ATF1 LIMA1 LETMD1 TFCP2 CSRNP2 ENSG00000257298 ENSG00000272368
GH12I050399 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.4 +681.8 681788 4 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 ZNF610 ZNF585B NBN GC12M050402 LARP4 LIMA1 SMARCD1 PRPF40B BCDIN3D ATF1 LOC100422296 ENSG00000257298 ENSG00000257964
GH12I051237 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.6 -156.6 -156589 4.7 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B DAZAP2 HNRNPA3P10 ATF1 TFCP2 LIMA1 LETMD1 CSRNP2 POU6F1 ATG101 LOC102723983
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CSRNP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSRNP2 gene promoter:

Genomic Locations for CSRNP2 Gene

Genomic Locations for CSRNP2 Gene
chr12:51,061,205-51,083,671
(GRCh38/hg38)
Size:
22,467 bases
Orientation:
Minus strand
chr12:51,454,990-51,477,447
(GRCh37/hg19)

Genomic View for CSRNP2 Gene

Genes around CSRNP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSRNP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSRNP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSRNP2 Gene

Proteins for CSRNP2 Gene

  • Protein details for CSRNP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H175-CSRN2_HUMAN
    Recommended name:
    Cysteine/serine-rich nuclear protein 2
    Protein Accession:
    Q9H175

    Protein attributes for CSRNP2 Gene

    Size:
    543 amino acids
    Molecular mass:
    59591 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CSRNP2 Gene

Post-translational modifications for CSRNP2 Gene

No Post-translational modifications

Other Protein References for CSRNP2 Gene

No data available for DME Specific Peptides for CSRNP2 Gene

Domains & Families for CSRNP2 Gene

Gene Families for CSRNP2 Gene

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

Protein Domains for CSRNP2 Gene

Suggested Antigen Peptide Sequences for CSRNP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H175

UniProtKB/Swiss-Prot:

CSRN2_HUMAN :
  • Belongs to the AXUD1 family.
Family:
  • Belongs to the AXUD1 family.
genes like me logo Genes that share domains with CSRNP2: view

Function for CSRNP2 Gene

Molecular function for CSRNP2 Gene

UniProtKB/Swiss-Prot Function:
Binds to the consensus sequence 5-AGAGTG-3 and has transcriptional activator activity (By similarity). May play a role in apoptosis.

Phenotypes From GWAS Catalog for CSRNP2 Gene

Gene Ontology (GO) - Molecular Function for CSRNP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity ISS,IEA 17726538
GO:0005515 protein binding IPI 15231748
GO:0019902 phosphatase binding IDA 19389623
genes like me logo Genes that share ontologies with CSRNP2: view

Phenotypes for CSRNP2 Gene

genes like me logo Genes that share phenotypes with CSRNP2: view

Animal Models for CSRNP2 Gene

MGI Knock Outs for CSRNP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSRNP2 Gene

Localization for CSRNP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSRNP2 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 CSRNP2 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSRNP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 17726538
genes like me logo Genes that share ontologies with CSRNP2: view

Pathways & Interactions for CSRNP2 Gene

SuperPathways for CSRNP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CSRNP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0006915 apoptotic process IEA --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with CSRNP2: view

No data available for Pathways by source and SIGNOR curated interactions for CSRNP2 Gene

Drugs & Compounds for CSRNP2 Gene

No Compound Related Data Available

Transcripts for CSRNP2 Gene

Unigene Clusters for CSRNP2 Gene

Cysteine-serine-rich nuclear protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSRNP2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8
SP1: - - - - - -
SP2: - - - - - - - - - -
SP3: - -
SP4: - - - - - -
SP5: - - - - -
SP6: - -
SP7: -
SP8:

Relevant External Links for CSRNP2 Gene

GeneLoc Exon Structure for
CSRNP2
ECgene alternative splicing isoforms for
CSRNP2

Expression for CSRNP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSRNP2 Gene

Protein differential expression in normal tissues from HIPED for CSRNP2 Gene

This gene is overexpressed in Heart (64.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CSRNP2 Gene



Protein tissue co-expression partners for CSRNP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CSRNP2 Gene:

CSRNP2

SOURCE GeneReport for Unigene cluster for CSRNP2 Gene:

Hs.524425

Evidence on tissue expression from TISSUES for CSRNP2 Gene

  • Nervous system(4.6)
  • Heart(4.2)
genes like me logo Genes that share expression patterns with CSRNP2: 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 CSRNP2 Gene

Orthologs for CSRNP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CSRNP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSRNP2 33 34
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia CSRNP2 33 34
  • 90.48 (n)
dog
(Canis familiaris)
Mammalia CSRNP2 33 34
  • 90.06 (n)
rat
(Rattus norvegicus)
Mammalia Csrnp2 33
  • 86.54 (n)
mouse
(Mus musculus)
Mammalia Csrnp2 33 16 34
  • 86.45 (n)
chicken
(Gallus gallus)
Aves CSRNP2 33 34
  • 75.82 (n)
lizard
(Anolis carolinensis)
Reptilia CSRNP2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csrnp2 33
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii csrnp2 33 34
  • 62.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta Axud1 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C41D11.3 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7164 34
  • 26 (a)
OneToMany
Species where no ortholog for CSRNP2 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 CSRNP2 Gene

ENSEMBL:
Gene Tree for CSRNP2 (if available)
TreeFam:
Gene Tree for CSRNP2 (if available)

Paralogs for CSRNP2 Gene

Paralogs for CSRNP2 Gene

(2) SIMAP similar genes for CSRNP2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CSRNP2: view

Variants for CSRNP2 Gene

Sequence variations from dbSNP and Humsavar for CSRNP2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000908649 -- 51,080,680(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000949262 -- 51,073,950(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1001114766 -- 51,072,647(-) A/T genic_upstream_transcript_variant, intron_variant
rs1001167206 -- 51,072,955(-) C/T genic_upstream_transcript_variant, intron_variant
rs1001299864 -- 51,082,759(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CSRNP2 Gene

Variant ID Type Subtype PubMed ID
esv2671499 CNV deletion 23128226
esv34039 CNV loss 18971310
esv3629498 CNV gain 21293372

Variation tolerance for CSRNP2 Gene

Residual Variation Intolerance Score: 37.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.77; 57.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSRNP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSRNP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSRNP2 Gene

Disorders for CSRNP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CSRNP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 4
  • rp4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CSRNP2

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 CSRNP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSRNP2 Gene

Publications for CSRNP2 Gene

  1. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  2. Characterization of a family of novel cysteine- serine-rich nuclear proteins (CSRNP). (PMID: 17726538) Gingras S … Ihle JN (PloS one 2007) 2 3 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for CSRNP2 Gene

Sources for CSRNP2 Gene

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