Aliases for CSRNP3 Gene

Aliases for CSRNP3 Gene

  • Cysteine And Serine Rich Nuclear Protein 3 2 3 5
  • TAIP-2 2 3 4
  • Family With Sequence Similarity 130, Member A2 2 3
  • Protein Phosphatase 1, Regulatory Subunit 73 2 3
  • Cysteine/Serine-Rich Nuclear Protein 3 3 4
  • FAM130A2 3 4
  • PPP1R73 2 3
  • TAIP2 3 4
  • Cysteine-Serine-Rich Nuclear Protein 3 2
  • TGF-Beta Induced Apoptosis Protein 2 3
  • TGF-Beta-Induced Apoptosis Protein 2 4
  • TGF Beta Induced Apotosis Protein 2 2
  • Protein FAM130A2 4
  • FLJ32093 2
  • CSRNP-3 4
  • CSRNP3 5

External Ids for CSRNP3 Gene

Previous HGNC Symbols for CSRNP3 Gene

  • FAM130A2

Previous GeneCards Identifiers for CSRNP3 Gene

  • GC02P166036
  • GC02P166138
  • GC02P166326
  • GC02P158208

Summaries for CSRNP3 Gene

GeneCards Summary for CSRNP3 Gene

CSRNP3 (Cysteine And Serine Rich Nuclear Protein 3) is a Protein Coding gene. Diseases associated with CSRNP3 include Conduct Disorder and Acromesomelic Dysplasia, Maroteaux Type. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is CSRNP2.

UniProtKB/Swiss-Prot Summary for CSRNP3 Gene

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

Additional gene information for CSRNP3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSRNP3 Gene

Genomics for CSRNP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CSRNP3 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
GH02J165469 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 605.7 +1.0 999 3.1 REST FOXA1 PRDM1 POLR2A SP1 ZNF341 ZNF561 SCRT2 SP2 RAD21 CSRNP3 lnc-SCN2A-4 SCN2A piR-45932-054 GALNT3
GH02J165572 Promoter 0.8 EPDnew 600.1 +102.7 102676 0.1 POLR2A ZNF600 SCRT2 ZBTB44 RAD21 ZSCAN5C OSR2 ZBTB17 ZNF335 RCOR1 CSRNP3 piR-45932-054 RF00017-3345 GALNT3
GH02J165470 Enhancer 0.2 CraniofacialAtlas 600.7 -0.7 -656 0.2 CSRNP3 lnc-SCN2A-4 lnc-CSRNP3-5 SCN3A
GH02J165434 Enhancer 0.6 Ensembl 6.3 -33.7 -33746 2.6 IKZF2 DPF2 RELB GATAD2B OSR2 NBN IKZF1 NR2F1 PRDM6 GLIS1 CSRNP3 ENSG00000288089 L13713-127 SCN3A
GH02J165697 Enhancer 0.9 FANTOM5 Ensembl ENCODE 4.4 +228.5 228454 2.2 CTCF RAD21 TRIM22 SMC3 ZNF654 ZNF143 MTA2 NANOG GALNT3 CSRNP3 HSALNG0020141 lnc-SCN2A-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSRNP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSRNP3

Top Transcription factor binding sites by QIAGEN in the CSRNP3 gene promoter:
  • LCR-F1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU3F2
  • STAT1
  • STAT1alpha

Genomic Locations for CSRNP3 Gene

Genomic Locations for CSRNP3 Gene
chr2:165,469,647-165,689,407
(GRCh38/hg38)
Size:
219,761 bases
Orientation:
Plus strand
chr2:166,326,157-166,545,917
(GRCh37/hg19)
Size:
219,761 bases
Orientation:
Plus strand

Genomic View for CSRNP3 Gene

Genes around CSRNP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSRNP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSRNP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSRNP3 Gene

Proteins for CSRNP3 Gene

  • Protein details for CSRNP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYN3-CSRN3_HUMAN
    Recommended name:
    Cysteine/serine-rich nuclear protein 3
    Protein Accession:
    Q8WYN3
    Secondary Accessions:
    • B3KPR4
    • Q53SG0
    • Q6ZTX3
    • Q9HAF9

    Protein attributes for CSRNP3 Gene

    Size:
    585 amino acids
    Molecular mass:
    64900 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB13890.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC86454.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC86454.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305};

    Alternative splice isoforms for CSRNP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSRNP3 Gene

Post-translational modifications for CSRNP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CSRNP3 Gene

Domains & Families for CSRNP3 Gene

Gene Families for CSRNP3 Gene

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

Protein Domains for CSRNP3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CSRNP3 Gene

GenScript: Design optimal peptide antigens:
  • TGF-beta-induced apoptosis protein 2 (CSRN3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WYN3

UniProtKB/Swiss-Prot:

CSRN3_HUMAN :
  • Belongs to the AXUD1 family.
Family:
  • Belongs to the AXUD1 family.
genes like me logo Genes that share domains with CSRNP3: view

Function for CSRNP3 Gene

Molecular function for CSRNP3 Gene

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

Phenotypes From GWAS Catalog for CSRNP3 Gene

Gene Ontology (GO) - Molecular Function for CSRNP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA,ISS 17726538
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with CSRNP3: view
genes like me logo Genes that share phenotypes with CSRNP3: view

Animal Models for CSRNP3 Gene

MGI Knock Outs for CSRNP3:

Animal Model Products

CRISPR Products

miRNA for CSRNP3 Gene

miRTarBase miRNAs that target CSRNP3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSRNP3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSRNP3 Gene

Localization for CSRNP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSRNP3 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 CSRNP3 gene
Compartment Confidence
nucleus 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSRNP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus ISS 17726538
genes like me logo Genes that share ontologies with CSRNP3: view

Pathways & Interactions for CSRNP3 Gene

PathCards logo

SuperPathways for CSRNP3 Gene

No Data Available

Interacting Proteins for CSRNP3 Gene

Gene Ontology (GO) - Biological Process for CSRNP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0043065 positive regulation of apoptotic process IEA,ISS --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA,ISS 17726538
genes like me logo Genes that share ontologies with CSRNP3: view

No data available for Pathways by source and SIGNOR curated interactions for CSRNP3 Gene

Drugs & Compounds for CSRNP3 Gene

(1) Drugs for CSRNP3 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bisphosphonates Pharma 0
genes like me logo Genes that share compounds with CSRNP3: view

Transcripts for CSRNP3 Gene

mRNA/cDNA for CSRNP3 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 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 CSRNP3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSRNP3 Gene

No ASD Table

Relevant External Links for CSRNP3 Gene

GeneLoc Exon Structure for
CSRNP3

Expression for CSRNP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CSRNP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSRNP3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.3), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Nucleus accumbens (basal ganglia) (x4.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSRNP3

SOURCE GeneReport for Unigene cluster for CSRNP3 Gene:

Hs.470479

Evidence on tissue expression from TISSUES for CSRNP3 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with CSRNP3: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSRNP3 Gene

Orthologs for CSRNP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CSRNP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CSRNP3 30 31
  • 99.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CSRNP3 30 31
  • 89.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CSRNP3 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Csrnp3 30 17 31
  • 86.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Csrnp3 30
  • 86.22 (n)
Oppossum
(Monodelphis domestica)
Mammalia CSRNP3 31
  • 86 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CSRNP3 30 31
  • 81.01 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CSRNP3 30 31
  • 80.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CSRNP3 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia csrnp3 30
  • 72.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100332048 30
  • 64.83 (n)
CSRNP3 31
  • 58 (a)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta Axud1 31
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C41D11.3 31
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7164 31
  • 25 (a)
OneToMany
Species where no ortholog for CSRNP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 CSRNP3 Gene

ENSEMBL:
Gene Tree for CSRNP3 (if available)
TreeFam:
Gene Tree for CSRNP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSRNP3: view image

Paralogs for CSRNP3 Gene

Paralogs for CSRNP3 Gene

(2) SIMAP similar genes for CSRNP3 Gene using alignment to 4 proteins:

  • CSRN3_HUMAN
  • B8ZZD9_HUMAN
  • E7EN18_HUMAN
  • J3KQ49_HUMAN
genes like me logo Genes that share paralogs with CSRNP3: view

Variants for CSRNP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSRNP3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
721230 Benign: not provided 165,679,246(+) C/A SYNONYMOUS_VARIANT
731512 Benign: not provided 165,679,078(+) G/A SYNONYMOUS_VARIANT
rs766623860 A colorectal cancer sample p.Pro474Leu

Additional dbSNP identifiers (rs#s) for CSRNP3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CSRNP3 Gene

Variant ID Type Subtype PubMed ID
esv2721070 CNV deletion 23290073
esv2721071 CNV deletion 23290073
esv2721072 CNV deletion 23290073
esv2721074 CNV deletion 23290073
esv2721075 CNV deletion 23290073
esv3307854 CNV mobile element insertion 20981092
esv3338498 CNV insertion 20981092
esv3560476 CNV deletion 23714750
esv3593239 CNV loss 21293372
esv4871 CNV loss 18987735
nsv1015115 CNV loss 25217958
nsv1109309 CNV deletion 24896259
nsv1109310 CNV deletion 24896259
nsv1115582 CNV duplication 24896259
nsv1125706 CNV tandem duplication 24896259
nsv1136432 CNV deletion 24896259
nsv1147849 CNV duplication 26484159
nsv3016 CNV insertion 18451855
nsv3017 CNV deletion 18451855
nsv472476 CNV novel sequence insertion 20440878
nsv583583 CNV gain 21841781
nsv956684 CNV deletion 24416366
nsv956709 CNV deletion 24416366

Variation tolerance for CSRNP3 Gene

Residual Variation Intolerance Score: 21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSRNP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSRNP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSRNP3 Gene

Disorders for CSRNP3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CSRNP3 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CSRNP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CSRNP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSRNP3 Gene

Publications for CSRNP3 Gene

  1. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick DM … Bierut L (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  2. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E … IMGSAC (Molecular psychiatry 2010) 3 41
  3. Characterization of a family of novel cysteine- serine-rich nuclear proteins (CSRNP). (PMID: 17726538) Gingras S … Ihle JN (PloS one 2007) 2 3
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for CSRNP3 Gene

Sources for CSRNP3 Gene