Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PPP1R12C Gene

Aliases for PPP1R12C Gene

  • Protein Phosphatase 1 Regulatory Subunit 12C 2 3 5
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 12C 2 3
  • Protein Phosphatase 1 Myosin-Binding Subunit Of 85 KDa 3 4
  • Protein Phosphatase 1 Myosin-Binding Subunit P85 3 4
  • Leukocyte Receptor Cluster (LRC) Member 3 2 3
  • Myosin-Binding Subunit 85 2 3
  • LENG3 3 4
  • MBS85 3 4
  • Leukocyte Receptor Cluster (LRC) Encoded Novel Gene 3 3
  • Protein Phosphatase 1, Regulatory Subunit 12C 2
  • AAVS1 3
  • P85 3
  • P84 3

External Ids for PPP1R12C Gene

Previous HGNC Symbols for PPP1R12C Gene

  • LENG3

Previous GeneCards Identifiers for PPP1R12C Gene

  • GC19M056464
  • GC19M056026
  • GC19M060278
  • GC19M060294
  • GC19M055602
  • GC19M051925

Summaries for PPP1R12C Gene

Entrez Gene Summary for PPP1R12C Gene

  • The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

GeneCards Summary for PPP1R12C Gene

PPP1R12C (Protein Phosphatase 1 Regulatory Subunit 12C) is a Protein Coding gene. Among its related pathways are Beta-Adrenergic Signaling and Activation of cAMP-Dependent PKA. An important paralog of this gene is PPP1R12A.

UniProtKB/Swiss-Prot for PPP1R12C Gene

  • Regulates myosin phosphatase activity.

Additional gene information for PPP1R12C Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R12C Gene

Genomics for PPP1R12C Gene

GeneHancer (GH) Regulatory Elements for PPP1R12C Gene

Promoters and enhancers for PPP1R12C 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
GH19I055111 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 559.4 +2.2 2217 8 HDGF ARNT ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 YY1 POLR2B PPP1R12C GC19M055111 EPS8L1 RDH13 U2AF2 LENG8-AS1 LENG8 ENSG00000235681 CNOT3 ENSG00000267523
GH19I054199 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +911.9 911890 12.1 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS9 PRPF31 LENG8 LENG8-AS1 CNOT3 ZNF525 ZNF845 ENSG00000235681 LILRB5 ZNF765
GH19I054447 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.7 +668.0 667988 4 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LENG8-AS1 GC19M054437 LENG8 LENG1 ENSG00000267838 PRPF31 LENG9 CNOT3 PPP1R12C GC19P054461
GH19I055086 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +29.8 29782 2.5 HNRNPUL1 CTCF MXI1 KLF1 MAX RAD21 POLR2A VEZF1 ZNF143 SMC3 EPS8L1 ZNF581 CNOT3 LENG8-AS1 LENG8 U2AF2 PPP1R12C LENG1 ZNF628 GP6
GH19I055091 Enhancer 0.7 Ensembl ENCODE 18.9 +24.4 24360 3.3 CTCF USF1 POLR2A SIN3A ZBTB33 EPS8L1 PPP1R12C RDH13 GP6 TNNI3 ENSG00000239137 DNAAF3 GC19M055111
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPP1R12C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPP1R12C gene promoter:

Genomic Locations for PPP1R12C Gene

Genomic Locations for PPP1R12C Gene
chr19:55,090,913-55,117,600
(GRCh38/hg38)
Size:
26,688 bases
Orientation:
Minus strand
chr19:55,602,281-55,628,927
(GRCh37/hg19)

Genomic View for PPP1R12C Gene

Genes around PPP1R12C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R12C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R12C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R12C Gene

Proteins for PPP1R12C Gene

  • Protein details for PPP1R12C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZL4-PP12C_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 12C
    Protein Accession:
    Q9BZL4
    Secondary Accessions:
    • B4DME2
    • Q59FK8
    • Q6ZPD1
    • Q7L8F7
    • Q96HW1
    • Q9H5H5
    • Q9NT00

    Protein attributes for PPP1R12C Gene

    Size:
    782 amino acids
    Molecular mass:
    84881 Da
    Quaternary structure:
    • PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, and one or several targeting or regulatory subunits. PPP1R12C mediates binding to myosin. Interacts via its N-terminus with PPP1CB. Interacts with IL16. Interacts with the coiled-coil domain of MPRIP.
    SequenceCaution:
    • Sequence=AF211968; Type=Miscellaneous discrepancy; Note=Unspliced mRNA.; Evidence={ECO:0000305}; Sequence=BAB15651.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC85179.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP1R12C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R12C Gene

Post-translational modifications for PPP1R12C Gene

  • Phosphorylation at Thr-560 is essential for its interaction with PPP1CB.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R12C Gene

No data available for DME Specific Peptides for PPP1R12C Gene

Domains & Families for PPP1R12C Gene

Gene Families for PPP1R12C Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PPP1R12C: view

No data available for UniProtKB/Swiss-Prot for PPP1R12C Gene

Function for PPP1R12C Gene

Molecular function for PPP1R12C Gene

UniProtKB/Swiss-Prot Function:
Regulates myosin phosphatase activity.

Phenotypes From GWAS Catalog for PPP1R12C Gene

Gene Ontology (GO) - Molecular Function for PPP1R12C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21988832
GO:0019208 phosphatase regulator activity IEA --
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with PPP1R12C: view
genes like me logo Genes that share phenotypes with PPP1R12C: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R12C Gene

Localization for PPP1R12C Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R12C Gene

Cytoplasm. Note=Along actomyosin filaments and stress fibers. {ECO:0000269 PubMed:11399775, ECO:0000269 PubMed:12923170}.

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 PPP1R12C gene
Compartment Confidence
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PPP1R12C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PPP1R12C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPP1R12C Gene

Pathways & Interactions for PPP1R12C Gene

genes like me logo Genes that share pathways with PPP1R12C: view

SIGNOR curated interactions for PPP1R12C Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PPP1R12C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PPP1R12C: view

Drugs & Compounds for PPP1R12C Gene

No Compound Related Data Available

Transcripts for PPP1R12C Gene

Unigene Clusters for PPP1R12C Gene

Protein phosphatase 1, regulatory subunit 12C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R12C Gene

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

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PPP1R12C Gene

GeneLoc Exon Structure for
PPP1R12C
ECgene alternative splicing isoforms for
PPP1R12C

Expression for PPP1R12C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP1R12C Gene

Protein differential expression in normal tissues from HIPED for PPP1R12C Gene

This gene is overexpressed in Gallbladder (10.2) and Peripheral blood mononuclear cells (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPP1R12C Gene



Protein tissue co-expression partners for PPP1R12C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP1R12C Gene:

PPP1R12C

SOURCE GeneReport for Unigene cluster for PPP1R12C Gene:

Hs.631579

mRNA Expression by UniProt/SwissProt for PPP1R12C Gene:

Q9BZL4-PP12C_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in heart.

Evidence on tissue expression from TISSUES for PPP1R12C Gene

  • Liver(4.2)
  • Nervous system(2.5)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PPP1R12C: 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 PPP1R12C Gene

Orthologs for PPP1R12C Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R12C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP1R12C 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPP1R12C 33 34
  • 86.82 (n)
dog
(Canis familiaris)
Mammalia PPP1R12C 33 34
  • 85.79 (n)
mouse
(Mus musculus)
Mammalia Ppp1r12c 33 16 34
  • 83.78 (n)
rat
(Rattus norvegicus)
Mammalia Ppp1r12c 33
  • 83.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R12C 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP1R12C 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r12c 33
  • 55.95 (n)
Str.15086 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16736 33
zebrafish
(Danio rerio)
Actinopterygii ppp1r12c 33 34
  • 55.88 (n)
Species where no ortholog for PPP1R12C 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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)

Evolution for PPP1R12C Gene

ENSEMBL:
Gene Tree for PPP1R12C (if available)
TreeFam:
Gene Tree for PPP1R12C (if available)

Paralogs for PPP1R12C Gene

genes like me logo Genes that share paralogs with PPP1R12C: view

Variants for PPP1R12C Gene

Sequence variations from dbSNP and Humsavar for PPP1R12C Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000026995 -- 55,113,539(-) G/A intron_variant
rs1000058284 -- 55,113,346(-) T/G intron_variant
rs1000136581 -- 55,107,462(-) T/A intron_variant
rs1000159342 -- 55,092,011(-) C/T intron_variant
rs1000375481 -- 55,118,789(-) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PPP1R12C Gene

Variant ID Type Subtype PubMed ID
dgv1819n106 OTHER inversion 24896259
dgv540e201 CNV deletion 23290073
esv1010486 CNV deletion 20482838
esv1104675 CNV deletion 17803354
esv1366716 CNV deletion 17803354
esv2667609 CNV deletion 23128226
esv2676610 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2718946 CNV deletion 23290073
esv2718947 CNV deletion 23290073
esv2718948 CNV deletion 23290073
esv2718949 CNV deletion 23290073
esv2718953 CNV deletion 23290073
esv27516 CNV loss 19812545
esv2758772 CNV gain 17122850
esv3083790 CNV deletion 24192839
esv34356 CNV gain 17911159
esv3644829 CNV gain 21293372
esv3644836 CNV gain 21293372
esv3893251 CNV loss 25118596
nsv1055961 CNV gain+loss 25217958
nsv1060034 CNV gain 25217958
nsv1072366 CNV deletion 25765185
nsv1079034 OTHER inversion 25765185
nsv1143924 CNV deletion 24896259
nsv1150276 OTHER inversion 26484159
nsv138336 CNV deletion 16902084
nsv512597 CNV loss 21212237
nsv817874 CNV loss 17921354

Variation tolerance for PPP1R12C Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R12C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R12C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R12C Gene

Disorders for PPP1R12C Gene

Additional Disease Information for PPP1R12C

No disorders were found for PPP1R12C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPP1R12C Gene

Publications for PPP1R12C Gene

  1. Phosphorylation of a novel myosin binding subunit of protein phosphatase 1 reveals a conserved mechanism in the regulation of actin cytoskeleton. (PMID: 11399775) Tan I … Leung T (The Journal of biological chemistry 2001) 2 3 4 58
  2. Genome editing of human embryonic stem cells and induced pluripotent stem cells with zinc finger nucleases for cellular imaging. (PMID: 22967807) Wang Y … Wu JC (Circulation research 2012) 2 3 58
  3. PDZ Domain-mediated interaction of interleukin-16 precursor proteins with myosin phosphatase targeting subunits. (PMID: 12923170) Bannert N … Kurth R (The Journal of biological chemistry 2003) 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. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 58

Products for PPP1R12C Gene

Sources for PPP1R12C Gene

Content
Loading form....