Aliases for ATP2C2 Gene

Aliases for ATP2C2 Gene

  • ATPase Secretory Pathway Ca2+ Transporting 2 2 3 5
  • SPCA2 2 3 4
  • ATPase, Ca++ Transporting, Type 2C, Member 2 2 3
  • Calcium-Transporting ATPase Type 2C Member 2 3 4
  • Secretory Pathway Calcium ATPase 2 2 3
  • Secretory Pathway Ca(2+)-ATPase 2 3 4
  • ATPase 2C2 3 4
  • KIAA0703 2 4
  • EC 7.2.2.10 4
  • EC 3.6.3.8 51
  • EC 3.6.3 51
  • ATP2C2 5

External Ids for ATP2C2 Gene

Previous GeneCards Identifiers for ATP2C2 Gene

  • GC16P082995
  • GC16P084402
  • 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 Specific Language Impairment and Dyslexia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. 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 Summary for ATP2C2 Gene

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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP2C2 Gene

Genomics for ATP2C2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 1.6 EPDnew Ensembl ENCODE dbSUPER 627.2 +1.0 1030 3.8 CEBPG GATAD2A TEAD4 TFE3 KDM1A FOXA1 IRF2 EZH2 GABPA ATF7 ATP2C2 KCNG4 piR-38351-208 MEAK7
GH16J084368 Enhancer 0.6 ENCODE dbSUPER 600.7 -1.1 -1065 0.1 GATAD2B DPF2 SPI1 CHD4 EZH2 ATP2C2 RF00017-2170 WFDC1
GH16J084366 Enhancer 0.6 dbSUPER 606.3 -1.6 -1619 0.4 CTCF KDM1A SMARCA5 ESRRA BCOR DPF2 RCOR1 CHD4 RAD21 ZMYM3 ATP2C2 RF00017-2170 WFDC1
GH16J084374 Enhancer 0.7 Ensembl dbSUPER 24.5 +5.2 5178 1.8 CREB1 ATF7 JUND RFX1 ATF2 GATA3 ATF3 FOS JUN ATF1 ATP2C2 WFDC1 KCNG4 piR-38351-208 MEAK7
GH16J084356 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.9 -9.9 -9922 5.6 ATF7 RCOR2 PKNOX1 RXRB SOX13 TCF7 CEBPB CTBP1 FOXA2 ESRRA ATP2C2 OSGIN1 COTL1 CRISPLD2 RF00017-2170 WFDC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP2C2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP2C2

Top Transcription factor binding sites by QIAGEN in the ATP2C2 gene promoter:
  • HNF-3beta
  • MyoD

Genomic Locations for ATP2C2 Gene

Genomic Locations for ATP2C2 Gene
chr16:84,368,523-84,465,777
(GRCh38/hg38)
Size:
97,255 bases
Orientation:
Plus strand
chr16:84,402,133-84,497,793
(GRCh37/hg19)
Size:
95,661 bases
Orientation:
Plus strand

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:
    103169 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31678.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP2C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP2C2 Gene

Selected DME Specific Peptides for ATP2C2 Gene

O75185:
  • PFSSEQKWMAV
  • VKMITGD
  • GLRVLALA
  • MILVDDDF
  • ADIGIAMG
  • NIKNFVRFQLSTSI
  • FGEVFKMM
  • MQILWINI
  • GDRIPAD
  • PLNAMQILW
  • PKTPLQKSMD
  • GVVIGTG
  • AIPEGLP
  • QFKNPLI
  • DKTGTLT
  • ALKSADIGIAMG
  • IVKKLPIVETLGCC
  • MTGDGVND

Post-translational modifications for ATP2C2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP2C2 Gene

Antibody Products

  • Abcam antibodies for ATP2C2
  • Boster Bio Antibodies for ATP2C2

Domains & Families for ATP2C2 Gene

Gene Families for ATP2C2 Gene

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

Protein Domains for ATP2C2 Gene

InterPro:
Blocks:
  • ATPase, E1-E2 type
  • Cation transporting ATPase, C-terminal
  • E1-E2 ATPase-associated region
  • H+-transporting ATPase (proton pump) signature
ProtoNet:

Suggested Antigen Peptide Sequences for ATP2C2 Gene

GenScript: Design optimal peptide antigens:
  • Secretory pathway Ca(2+)-ATPase 2 (AT2C2_HUMAN)

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:
Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10;.

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,IBA 21873635
GO:0005515 protein binding IPI 20887894
GO:0005524 ATP binding IEA --
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA 21873635
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

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
plasma membrane 4
golgi apparatus 4
endoplasmic reticulum 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 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:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005886 plasma membrane IBA 21873635
GO:0009898 cytoplasmic side of plasma membrane 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

Interacting Proteins 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:0006828 manganese ion transport IBA 21873635
GO:0006874 cellular calcium ion homeostasis IBA 21873635
GO:0034220 ion transmembrane transport TAS --
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

(3) Drugs for ATP2C2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Desflurane Approved Pharma Target, inhibitor 209
Calcium Nutra 6556
genes like me logo Genes that share compounds with ATP2C2: view

Transcripts for ATP2C2 Gene

mRNA/cDNA for ATP2C2 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
15 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 ATP2C2

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

Expression for ATP2C2 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Colon (Gastrointestinal Tract)

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP2C2

SOURCE GeneReport for Unigene cluster for ATP2C2 Gene:

Hs.6168

Evidence on tissue expression from TISSUES for ATP2C2 Gene

  • Intestine(4.5)
  • Nervous system(4.4)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with ATP2C2: view

No data available for 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 30 31
  • 99.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP2C2 31
  • 87 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP2C2 30 31
  • 86.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP2C2 30 31
  • 85.4 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP2C2 31
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp2c2 30
  • 82.29 (n)
Mouse
(Mus musculus)
Mammalia Atp2c2 30 17 31
  • 81.97 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ATP2C2 30 31
  • 74.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP2C2 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp2c2 30
  • 69.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-28b4.8 31
  • 29 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta SPoCk 31
  • 49 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pmr-1 31
  • 50 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 31
  • 47 (a)
OneToMany
PMA1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToMany
Species where no ortholog for ATP2C2 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)
  • 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 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP2C2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
708029 Likely Benign: not provided 84,454,868(+) C/T SYNONYMOUS_VARIANT
711182 Benign: not provided 84,462,089(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
712738 Benign: not provided 84,454,838(+) G/A SYNONYMOUS_VARIANT
712739 Likely Benign: not provided 84,462,023(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
712849 Benign: not provided 84,439,169(+) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATP2C2 Gene

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

(12) MalaCards diseases for ATP2C2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
specific language impairment
  • language impairment, specific
dyslexia
benign chronic pemphigus
  • bcpm
speech and communication disorders
  • communication disorder
expressive language disorder
  • developmental expressive language disorder
- 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
Open Targets Platform
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 23
  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
  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 41
  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 23
  5. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt DR … Palotie A (Human molecular genetics 2008) 3 41

Products for ATP2C2 Gene

Sources for ATP2C2 Gene