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CSRNP3 cysteine and serine rich nuclear protein 3 [ Homo sapiens (human) ]

Gene ID: 80034, updated on 5-Mar-2024

Summary

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Official Symbol
CSRNP3provided by HGNC
Official Full Name
cysteine and serine rich nuclear protein 3provided by HGNC
Primary source
HGNC:HGNC:30729
See related
Ensembl:ENSG00000178662 MIM:620405; AllianceGenome:HGNC:30729
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MBU1; TAIP2; TAIP-2; PPP1R73; FAM130A2
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 7.4), endometrium (RPKM 2.0) and 15 other tissues See more
Orthologs
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Genomic context

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Location:
2q24.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (165469698..165689407)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (165926990..166146740)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166326208..166545917)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel alpha subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12066 Neighboring gene Sharpr-MPRA regulatory region 13511 Neighboring gene sodium voltage-gated channel alpha subunit 2 Neighboring gene MAPRE1 pseudogene 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:166279515-166280129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:166283004-166283939 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166385525-166386157 Neighboring gene MPRA-validated peak3912 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr2:166436961-166437478 Neighboring gene NANOG hESC enhancer GRCh37_chr2:166437479-166437996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16726 Neighboring gene uncharacterized LOC124906085 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166490986-166491565 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166491566-166492144 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:166564017-166564558 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166565101-166565640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166593391-166593948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166649507-166650413 Neighboring gene uncharacterized LOC124906086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166650414-166651319 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 3 Neighboring gene NANOG hESC enhancer GRCh37_chr2:166700603-166701418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:166710405-166710906 Neighboring gene uncharacterized LOC100506124

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. Deelen J, et al. Hum Mol Genet, 2014 Aug 15. PMID 24688116, Free PMC Article
  2. Characterization of a family of novel cysteine- serine-rich nuclear proteins (CSRNP). Gingras S, et al. PLoS One, 2007 Aug 29. PMID 17726538, Free PMC Article
  3. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. Dick DM, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Sep. PMID 20468071, Free PMC Article
  4. 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. Maestrini E, et al. Mol Psychiatry, 2010 Sep. PMID 19401682, Free PMC Article
  5. Docking motif-guided mapping of the interactome of protein phosphatase-1. Hendrickx A, et al. Chem Biol, 2009 Apr 24. PMID 19389623

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11703, FLJ32093, FLJ44141

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 

General protein information

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Preferred Names
cysteine/serine-rich nuclear protein 3
Names
TGF-beta induced apoptosis protein 2
family with sequence similarity 130, member A2
protein phosphatase 1, regulatory subunit 73

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001172173.2 → NP_001165644.1  cysteine/serine-rich nuclear protein 3

    See identical proteins and their annotated locations for NP_001165644.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC019140, AK056655, AK126129
    Consensus CDS
    CCDS2225.1
    UniProtKB/Swiss-Prot
    B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9
    Related
    ENSP00000498841.1, ENST00000651982.1
    Conserved Domains (1) summary
    pfam16019
    Location:61 → 278
    CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

  2. NM_024969.3 → NP_079245.2  cysteine/serine-rich nuclear protein 3

    See identical proteins and their annotated locations for NP_079245.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC019140, AK056655, DA500249
    Consensus CDS
    CCDS2225.1
    UniProtKB/Swiss-Prot
    B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9
    Related
    ENSP00000344042.4, ENST00000342316.8
    Conserved Domains (1) summary
    pfam16019
    Location:61 → 278
    CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    165469698..165689407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445908.1 → XP_047301864.1  cysteine/serine-rich nuclear protein 3 isoform X3

    UniProtKB/Swiss-Prot
    B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9

  2. XM_024453155.2 → XP_024308923.1  cysteine/serine-rich nuclear protein 3 isoform X3

    UniProtKB/Swiss-Prot
    B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9
    Conserved Domains (1) summary
    pfam16019
    Location:61 → 278
    CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

  3. XM_047445907.1 → XP_047301863.1  cysteine/serine-rich nuclear protein 3 isoform X1

  4. XM_005246865.5 → XP_005246922.1  cysteine/serine-rich nuclear protein 3 isoform X2

    UniProtKB/TrEMBL
    J3KQ49
    Related
    ENSP00000387195.1, ENST00000409420.1
    Conserved Domains (1) summary
    pfam16019
    Location:93 → 310
    CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    165926990..166146740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344010.1 → XP_054199985.1  cysteine/serine-rich nuclear protein 3 isoform X3

    UniProtKB/Swiss-Prot
    B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9

  2. XM_054344008.1 → XP_054199983.1  cysteine/serine-rich nuclear protein 3 isoform X1

  3. XM_054344009.1 → XP_054199984.1  cysteine/serine-rich nuclear protein 3 isoform X2

    UniProtKB/TrEMBL
    J3KQ49
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WYN3.1 GenPept UniProtKB/Swiss-Prot:Q8WYN3

Gene LinkOut

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