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Aliases for ATP2C2 Gene

Aliases for ATP2C2 Gene

  • ATPase Secretory Pathway Ca2+ Transporting 2 2 3 5
  • ATPase, Ca++ Transporting, Type 2C, Member 2 2 3
  • Secretory Pathway Calcium ATPase 2 2 3
  • Secretory Pathway Ca(2+)-ATPase 2 3 4
  • ATPase 2C2 3 4
  • SPCA2 3 4
  • Calcium-Transporting ATPase Type 2C Member 2 3
  • EC 3.6.3.8 4
  • KIAA0703 4

External Ids for ATP2C2 Gene

Previous GeneCards Identifiers for ATP2C2 Gene

  • GC16P082995
  • GC16P070154

Summaries for ATP2C2 Gene

GeneCards Summary for ATP2C2 Gene

ATP2C2 (ATPase Secretory Pathway Ca2+ Transporting 2) is a Protein Coding gene. Diseases associated with ATP2C2 include Benign Chronic Pemphigus and Speech And Communication Disorders. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include nucleotide binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2C1.

UniProtKB/Swiss-Prot for ATP2C2 Gene

  • This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.

Additional gene information for ATP2C2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2C2 Gene

Genomics for ATP2C2 Gene

GeneHancer (GH) Regulatory Elements for ATP2C2 Gene

Promoters and enhancers for ATP2C2 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
GH16J084367 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 677.3 +1.0 1030 3.8 CLOCK FOXA2 NFIB NEUROD1 SIN3A RFX5 ETS1 ZNF121 ZNF143 FOS ATP2C2 KCNG4 GC16P084460
GH16J084366 Enhancer 0.6 dbSUPER 656.4 -1.6 -1619 0.4 BCOR SMARCA5 CTCF ESRRA ZMYM3 DPF2 GATA3 RCOR1 KDM1A ATP2C2 ENSG00000260504
GH16J084368 Enhancer 0.6 ENCODE dbSUPER 650.7 -1.1 -1065 0.1 GATA3 GATAD2B DPF2 ATP2C2 ENSG00000260504
GH16J084376 Enhancer 0.7 dbSUPER 19.9 +10.0 9993 3.8 BCOR KLF1 PKNOX1 ZMYM3 GATA3 ZNF143 ATF7 ZNF444 RCOR1 SMARCA5 ATP2C2 ENSG00000261243 KLHL36 ZDHHC7 GC16P084460
GH16J084374 Enhancer 0.4 dbSUPER 24.4 +5.9 5945 0.7 GATA3 RFX1 FOS ATP2C2 WFDC1 KCNG4 GC16P084460
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP2C2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP2C2 gene promoter:

Genomic Locations for ATP2C2 Gene

Genomic Locations for ATP2C2 Gene
chr16:84,368,523-84,464,187
(GRCh38/hg38)
Size:
95,665 bases
Orientation:
Plus strand
chr16:84,402,133-84,497,793
(GRCh37/hg19)

Genomic View for ATP2C2 Gene

Genes around ATP2C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2C2 Gene

Proteins for ATP2C2 Gene

  • Protein details for ATP2C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75185-AT2C2_HUMAN
    Recommended name:
    Calcium-transporting ATPase type 2C member 2
    Protein Accession:
    O75185
    Secondary Accessions:
    • B4DU76
    • E7ES94
    • Q5HYC3
    • Q5S053
    • Q68CQ2

    Protein attributes for ATP2C2 Gene

    Size:
    946 amino acids
    Molecular mass:
    103187 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31678.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP2C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP2C2 Gene

Post-translational modifications for ATP2C2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP2C2 Gene

No data available for DME Specific Peptides for ATP2C2 Gene

Domains & Families for ATP2C2 Gene

Gene Families for ATP2C2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ATP2C2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75185

UniProtKB/Swiss-Prot:

AT2C2_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
genes like me logo Genes that share domains with ATP2C2: view

Function for ATP2C2 Gene

Molecular function for ATP2C2 Gene

UniProtKB/Swiss-Prot Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).

Enzyme Numbers (IUBMB) for ATP2C2 Gene

Phenotypes From GWAS Catalog for ATP2C2 Gene

Gene Ontology (GO) - Molecular Function for ATP2C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005388 calcium-transporting ATPase activity IEA --
GO:0005515 protein binding IPI 20887894
GO:0005524 ATP binding IEA --
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA --
genes like me logo Genes that share ontologies with ATP2C2: view
genes like me logo Genes that share phenotypes with ATP2C2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2C2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATP2C2 Gene

Localization for ATP2C2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2C2 Gene

Membrane; Multi-pass membrane protein.

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 ATP2C2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP2C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0009898 cytoplasmic side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with ATP2C2: view

Pathways & Interactions for ATP2C2 Gene

genes like me logo Genes that share pathways with ATP2C2: view

Pathways by source for ATP2C2 Gene

Gene Ontology (GO) - Biological Process for ATP2C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IBA --
GO:0034220 ion transmembrane transport TAS --
GO:0061180 mammary gland epithelium development IEA --
genes like me logo Genes that share ontologies with ATP2C2: view

No data available for SIGNOR curated interactions for ATP2C2 Gene

Drugs & Compounds for ATP2C2 Gene

(2) Drugs for ATP2C2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Magnesium Approved Nutra 0
genes like me logo Genes that share compounds with ATP2C2: view

Transcripts for ATP2C2 Gene

Unigene Clusters for ATP2C2 Gene

ATPase, Ca++ transporting, type 2C, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2C2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2C2 Gene

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

ExUns: 24a · 24b · 24c ^ 25 ^ 26a · 26b ^ 27a · 27b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for ATP2C2 Gene

GeneLoc Exon Structure for
ATP2C2
ECgene alternative splicing isoforms for
ATP2C2

Expression for ATP2C2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP2C2 Gene

mRNA differential expression in normal tissues according to GTEx for ATP2C2 Gene

This gene is overexpressed in Colon - Transverse (x10.7), Skin - Not Sun Exposed (Suprapubic) (x5.2), and Skin - Sun Exposed (Lower leg) (x5.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATP2C2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP2C2 Gene:

ATP2C2

SOURCE GeneReport for Unigene cluster for ATP2C2 Gene:

Hs.6168

Evidence on tissue expression from TISSUES for ATP2C2 Gene

  • Intestine(4.4)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ATP2C2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2C2 Gene

Orthologs for ATP2C2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP2C2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP2C2 34 33
  • 99.08 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2C2 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2C2 34 33
  • 86.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2C2 34 33
  • 85.4 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2C2 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2c2 33
  • 82.29 (n)
mouse
(Mus musculus)
Mammalia Atp2c2 16 34 33
  • 81.97 (n)
chicken
(Gallus gallus)
Aves ATP2C2 34 33
  • 74.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2C2 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2c2 33
  • 69.77 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-28b4.8 34
  • 29 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta SPoCk 34
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pmr-1 34
  • 50 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 34
  • 47 (a)
OneToMany
PMA1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToMany
Species where no ortholog for ATP2C2 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)
  • 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 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 ATP2C2 Gene

ENSEMBL:
Gene Tree for ATP2C2 (if available)
TreeFam:
Gene Tree for ATP2C2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP2C2: view image

Paralogs for ATP2C2 Gene

(8) SIMAP similar genes for ATP2C2 Gene using alignment to 3 proteins:

  • AT2C2_HUMAN
  • E7ES94_HUMAN
  • H3BS90_HUMAN
genes like me logo Genes that share paralogs with ATP2C2: view

Variants for ATP2C2 Gene

Sequence variations from dbSNP and Humsavar for ATP2C2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000019101 -- 84,409,072(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000053155 -- 84,435,577(+) G/A intron_variant
rs1000064314 -- 84,381,437(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000085766 -- 84,435,361(+) T/C intron_variant
rs1000122833 -- 84,388,661(+) T/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2C2 Gene

Variant ID Type Subtype PubMed ID
dgv169n21 CNV loss 19592680
dgv3057n100 CNV loss 25217958
dgv5262n54 CNV loss 21841781
dgv5263n54 CNV loss 21841781
dgv547e214 CNV loss 21293372
dgv548e214 CNV gain 21293372
dgv549e214 CNV gain 21293372
esv2659934 CNV deletion 23128226
esv26698 CNV loss 19812545
esv2677840 CNV deletion 23128226
esv33856 CNV gain 17666407
esv3582418 CNV loss 25503493
esv3639422 CNV loss 21293372
esv3639423 CNV loss 21293372
esv3639424 CNV gain 21293372
esv3639427 CNV loss 21293372
esv3892928 CNV loss 25118596
nsv1056072 CNV loss 25217958
nsv1059640 CNV loss 25217958
nsv1060813 CNV loss 25217958
nsv1061004 CNV loss 25217958
nsv1064308 CNV loss 25217958
nsv1064677 CNV loss 25217958
nsv1065249 CNV gain 25217958
nsv1066356 CNV loss 25217958
nsv1123075 CNV deletion 24896259
nsv1127521 CNV deletion 24896259
nsv457598 CNV loss 19166990
nsv457599 CNV gain 19166990
nsv457600 CNV loss 19166990
nsv457603 CNV loss 19166990
nsv471107 CNV gain 18288195
nsv483044 CNV gain 15286789
nsv517727 CNV loss 19592680
nsv523226 CNV loss 19592680
nsv524545 CNV loss 19592680
nsv524729 CNV loss 19592680
nsv527957 CNV loss 19592680
nsv573425 CNV loss 21841781
nsv573427 CNV loss 21841781
nsv573428 CNV gain 21841781
nsv573430 CNV loss 21841781
nsv573434 CNV loss 21841781
nsv573436 CNV loss 21841781
nsv817746 CNV gain 17921354
nsv827781 CNV gain 20364138
nsv833310 CNV loss 17160897

Variation tolerance for ATP2C2 Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.28; 94.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP2C2 Gene

Human Gene Mutation Database (HGMD)
ATP2C2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2C2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2C2 Gene

Disorders for ATP2C2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATP2C2 Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP2C2

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 ATP2C2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP2C2 Gene

Publications for ATP2C2 Gene

  1. The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump with high affinity for Ca2+ ions. (PMID: 15831496) Vanoevelen J … Wuytack F (The Journal of biological chemistry 2005) 3 4 22 58
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. CMIP and ATP2C2 modulate phonological short-term memory in language impairment. (PMID: 19646677) Newbury DF … Monaco AP (American journal of human genetics 2009) 3 22 58
  5. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch KP … Jacob C (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 44 58

Products for ATP2C2 Gene

Sources for ATP2C2 Gene

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