Aliases for PRRC2C Gene

Aliases for PRRC2C Gene

  • Proline Rich Coiled-Coil 2C 2 3 5
  • Proline-Rich And Coiled-Coil-Containing Protein 2C 3 4
  • HLA-B-Associated Transcript 2-Like 2 3 4
  • HBV X-Transactivated Gene 2 Protein 3 4
  • BAT2 Domain-Containing Protein 1 3 4
  • HBV XAg-Transactivated Protein 2 3 4
  • BAT2 Domain Containing 1 2 3
  • Protein PRRC2C 3 4
  • BAT2D1 3 4
  • BAT2L2 3 4
  • XTP2 3 4
  • HLA-B Associated Transcript 2-Like 2 2
  • HBxAg Transactivated Protein 2 3
  • Proline-Rich Coiled-Coil 2C 2
  • Protein BAT2-Like 2 3
  • BAT2-Iso 3
  • KIAA1096 4

External Ids for PRRC2C Gene

Previous HGNC Symbols for PRRC2C Gene

  • BAT2D1
  • BAT2L2

Summaries for PRRC2C Gene

GeneCards Summary for PRRC2C Gene

PRRC2C (Proline Rich Coiled-Coil 2C) is a Protein Coding gene. Diseases associated with PRRC2C include Spastic Paraplegia 8, Autosomal Dominant and Encephalopathy, Ethylmalonic. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding. An important paralog of this gene is PRRC2B.

Additional gene information for PRRC2C Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRRC2C Gene

Genomics for PRRC2C Gene

GeneHancer (GH) Regulatory Elements for PRRC2C Gene

Promoters and enhancers for PRRC2C 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
GH01J171483 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 524.4 +0.8 788 5 ZNF217 EP300 CTCF SIN3A NRF1 USF1 POLR2G SP1 NCOR1 PHF8 PRRC2C NONHSAG003450.2 lnc-MYOC-7 PIGC MYOC RF00017-393 lnc-MYOCOS-1
GH01J171512 Promoter/Enhancer 0.5 EPDnew dbSUPER 512.4 +26.6 26599 0.1 PRRC2C KR153194-017 RF00026-084 NONHSAG003450.2
GH01J171738 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 39.3 +255.9 255916 6.2 HNRNPK ZBTB40 ZNF217 EP300 CTCF TCF12 SIN3A NRF1 POLR2G SP1 VAMP4 PRRC2C EEF1AKNMT PIGC FMO4 SUCO MYOC FJ601684-030
GH01J172443 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 31.1 +958.3 958262 2 ZBTB40 ZNF217 CTCF TCF12 NRF1 POLR2G GTF2E2 PHF8 ZFX ZNF639 PIGC lnc-PIGC-2 PRRC2C EEF1AKNMT LOC102724528 lnc-TNFSF18-5 C1orf105
GH01J171779 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 22.4 +296.2 296157 3.5 ZBTB40 ZNF217 TCF12 SIN3A NRF1 USF1 POLR2G SP1 GTF2E2 PHF8 EEF1AKNMT RF00017-394 PRRC2C MYOC PIGC DNM3 lnc-METTL13-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRRC2C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRRC2C

Genomic Locations for PRRC2C Gene

Genomic Locations for PRRC2C Gene
chr1:171,485,513-171,593,511
(GRCh38/hg38)
Size:
107,999 bases
Orientation:
Plus strand
chr1:171,454,651-171,562,650
(GRCh37/hg19)
Size:
108,000 bases
Orientation:
Plus strand

Genomic View for PRRC2C Gene

Genes around PRRC2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRRC2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRRC2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRRC2C Gene

Proteins for PRRC2C Gene

  • Protein details for PRRC2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y520-PRC2C_HUMAN
    Recommended name:
    Protein PRRC2C
    Protein Accession:
    Q9Y520
    Secondary Accessions:
    • Q05DM8
    • Q49A39
    • Q6PD54
    • Q9H2N2
    • Q9HA05
    • Q9NSM8
    • Q9NXL3
    • Q9UF29
    • Q9UPQ6

    Protein attributes for PRRC2C Gene

    Size:
    2896 amino acids
    Molecular mass:
    316911 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH06090.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH45713.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH58930.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA90997.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for PRRC2C Gene

neXtProt entry for PRRC2C Gene

Post-translational modifications for PRRC2C Gene

  • Ubiquitination at Lys665, Lys873, and Lys2709
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PRRC2C Gene

Domains & Families for PRRC2C Gene

Gene Families for PRRC2C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRRC2C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRRC2C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52084, highly similar to Homo sapiens BAT2 domain containing 1 (BAT2D1), mRNA (B4E3S2_HUMAN)
  • Proline-rich and coiled-coil-containing protein 2C (PRC2C_HUMAN)
genes like me logo Genes that share domains with PRRC2C: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PRRC2C Gene

Function for PRRC2C Gene

Phenotypes From GWAS Catalog for PRRC2C Gene

Gene Ontology (GO) - Molecular Function for PRRC2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0008022 protein C-terminus binding IPI 17577209
genes like me logo Genes that share ontologies with PRRC2C: view
genes like me logo Genes that share phenotypes with PRRC2C: view

Animal Model Products

CRISPR Products

miRNA for PRRC2C Gene

miRTarBase miRNAs that target PRRC2C

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRRC2C Gene

Localization for PRRC2C 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 PRRC2C gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PRRC2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with PRRC2C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRRC2C Gene

Pathways & Interactions for PRRC2C Gene

PathCards logo

SuperPathways for PRRC2C Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRRC2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IBA 21873635
genes like me logo Genes that share ontologies with PRRC2C: view

No data available for Pathways by source and SIGNOR curated interactions for PRRC2C Gene

Drugs & Compounds for PRRC2C Gene

No Compound Related Data Available

Transcripts for PRRC2C Gene

mRNA/cDNA for PRRC2C Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRRC2C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
SP1: -
SP2: -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 24a · 24b ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d · 27e · 27f
SP1:
SP2:
SP3:
SP4: - -
SP5: -
SP6: - -
SP7: -
SP8:
SP9:
SP10: -
SP11:
SP12:

Relevant External Links for PRRC2C Gene

GeneLoc Exon Structure for
PRRC2C

Expression for PRRC2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRRC2C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRRC2C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.3), CD8 Tcells (7.0), and Adrenal (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRRC2C Gene



Protein tissue co-expression partners for PRRC2C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRRC2C

SOURCE GeneReport for Unigene cluster for PRRC2C Gene:

Hs.494614

mRNA Expression by UniProt/SwissProt for PRRC2C Gene:

Q9Y520-PRC2C_HUMAN
Tissue specificity: Overexpressed in bladder cancer.

Evidence on tissue expression from TISSUES for PRRC2C Gene

  • Nervous system(4.8)
  • Intestine(4.7)
  • Liver(4.7)
  • Skin(4.3)
  • Lung(4)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with PRRC2C: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRRC2C Gene

Orthologs for PRRC2C Gene

This gene was present in the common ancestor of animals.

Orthologs for PRRC2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRRC2C 31 30
  • 99.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRRC2C 31 30
  • 89.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRRC2C 31 30
  • 89.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prrc2c 17 31 30
  • 85.36 (n)
oppossum
(Monodelphis domestica)
Mammalia PRRC2C 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRRC2C 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRRC2C 31 30
  • 73.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRRC2C 31
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398535 30
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75934 30
zebrafish
(Danio rerio)
Actinopterygii prrc2c 31
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F52G3.1 31
  • 25 (a)
OneToMany
Species where no ortholog for PRRC2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for PRRC2C Gene

ENSEMBL:
Gene Tree for PRRC2C (if available)
TreeFam:
Gene Tree for PRRC2C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRRC2C: view image

Paralogs for PRRC2C Gene

Paralogs for PRRC2C Gene

(1) SIMAP similar genes for PRRC2C Gene using alignment to 3 proteins:

  • PRC2C_HUMAN
  • E7EPN9_HUMAN
  • H7C5N8_HUMAN

Pseudogenes.org Pseudogenes for PRRC2C Gene

genes like me logo Genes that share paralogs with PRRC2C: view

Variants for PRRC2C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRRC2C Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs10913157 - p.Ala235Thr
rs12025905 - p.Ala1885Thr
rs1687056 - p.Pro1771Ser
rs183523 - p.Pro1924Arg
rs235468 - p.Ser1624Cys

Additional dbSNP identifiers (rs#s) for PRRC2C Gene

Structural Variations from Database of Genomic Variants (DGV) for PRRC2C Gene

Variant ID Type Subtype PubMed ID
esv2230348 CNV deletion 18987734
esv2719518 CNV deletion 23290073
esv28731 CNV gain+loss 19812545
esv3578271 CNV loss 25503493
nsv3498 CNV insertion 18451855
nsv465639 CNV loss 19166990
nsv548190 CNV loss 21841781

Variation tolerance for PRRC2C Gene

Residual Variation Intolerance Score: 3.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.20; 84.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRRC2C Gene

Human Gene Mutation Database (HGMD)
PRRC2C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRRC2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRC2C Gene

Disorders for PRRC2C Gene

MalaCards: The human disease database

(3) MalaCards diseases for PRRC2C Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRRC2C

genes like me logo Genes that share disorders with PRRC2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRRC2C Gene

Publications for PRRC2C Gene

  1. KIAA1096, a gene on chromosome 1q, is amplified and overexpressed in bladder cancer. (PMID: 12443540) Huang WC … McGarvey TW (DNA and cell biology 2002) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. BioID Performed on Golgi Enriched Fractions Identify C10orf76 as a GBF1 Binding Protein Essential for Golgi Maintenance and Secretion. (PMID: 31519766) Chan CJ … Melançon P (Molecular & cellular proteomics : MCP 2019) 3 54
  5. The p300/YY1/miR-500a-5p/HDAC2 signalling axis regulates cell proliferation in human colorectal cancer. (PMID: 30737378) Tang W … Wang J (Nature communications 2019) 3 54

Products for PRRC2C Gene

Sources for PRRC2C Gene