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

Aliases for ATP2C2 Gene

Aliases for ATP2C2 Gene

  • ATPase Secretory Pathway Ca2+ Transporting 2 2 3
  • ATPase, Ca++ Transporting, Type 2C, Member 2 2 3 5
  • Secretory Pathway Calcium ATPase 2 2 3
  • Secretory Pathway Ca(2+)-ATPase 2 3 4
  • ATPase 2C2 3 4
  • EC 3.6.3.8 4 63
  • SPCA2 3 4
  • KIAA0703 4
  • EC 3.6.3 63

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 Speech And Communication Disorders and Specific Language Impairment. Among its related pathways are Ion channel transport and Cardiac conduction. 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.

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

Genomics for ATP2C2 Gene

Regulatory Elements for ATP2C2 Gene

Enhancers for ATP2C2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP2C2 on UCSC Golden Path with GeneCards custom track

Promoters for ATP2C2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP2C2 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ATP2C2 Gene

Chromosome:
16
Start:
84,368,523 bp from pter
End:
84,464,187 bp from pter
Size:
95,665 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:
    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

Proteomics data for ATP2C2 Gene at MOPED

Post-translational modifications for ATP2C2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP2C2 Gene

Domains & Families for ATP2C2 Gene

Gene Families for ATP2C2 Gene

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

Enzyme Numbers (IUBMB) for ATP2C2 Gene

Gene Ontology (GO) - Molecular Function for ATP2C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity IEA,IBA --
GO:0015410 manganese-transporting ATPase activity 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

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
Jensen Localization Image for ATP2C2 Gene COMPARTMENTS Subcellular localization image for ATP2C2 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATP2C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
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:0006874 cellular calcium ion homeostasis IBA --
GO:0055085 transmembrane transport TAS --
GO:0061180 mammary gland epithelium development IEA --
GO:0072661 protein targeting to plasma membrane 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 Nutra 0
Magnesium 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:

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 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, PaxDb, and MOPED for ATP2C2 Gene



SOURCE GeneReport for Unigene cluster for ATP2C2 Gene Hs.6168

genes like me logo Genes that share expression patterns with ATP2C2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ATP2C2 35
  • 85.4 (n)
  • 87.09 (a)
ATP2C2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2C2 35
  • 86.14 (n)
  • 88.25 (a)
ATP2C2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2c2 35
  • 81.97 (n)
  • 84.62 (a)
Atp2c2 16
Atp2c2 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP2C2 35
  • 99.08 (n)
  • 98.77 (a)
ATP2C2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2c2 35
  • 82.29 (n)
  • 84.84 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP2C2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2C2 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP2C2 35
  • 74.76 (n)
  • 81.36 (a)
ATP2C2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2C2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2c2 35
  • 69.77 (n)
  • 75.89 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-28b4.8 36
  • 29 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta SPoCk 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pmr-1 36
  • 50 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 36
  • 47 (a)
OneToMany
PMA1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for ATP2C2:
  • 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)

Paralogs for ATP2C2 Gene

Paralogs for ATP2C2 Gene

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

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 Sequence Context AA Info Type
rs2303853 - 84,440,878(-) TTGAC(C/T)GTCAT reference, missense
rs247897 - 84,442,594(-) CTTCA(A/T)CGCCA reference, missense
VAR_047937 -
rs247818 - 84,410,743(-) AACCA(G/T)CTTGG intron-variant, reference, missense
rs62640926 - 84,452,071(+) TGCCC(A/T)GGAGA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv833310 CNV Loss 17160897
nsv907065 CNV Gain 21882294
dgv169n21 CNV Loss 19592680
nsv907067 CNV Loss 21882294
nsv457598 CNV Loss 19166990
dgv2933n71 CNV Gain 21882294
nsv471107 CNV Gain 18288195
nsv457599 CNV Gain 19166990
nsv457600 CNV Loss 19166990
nsv527957 CNV Loss 19592680
nsv524545 CNV Loss 19592680
esv2677840 CNV Deletion 23128226
esv2659934 CNV Deletion 23128226
esv26698 CNV Loss 19812545
nsv517727 CNV Loss 19592680
nsv907070 CNV Gain 21882294
nsv523226 CNV Loss 19592680
dgv2934n71 CNV Loss 21882294
nsv524729 CNV Loss 19592680
nsv907073 CNV Loss 21882294
nsv817746 CNV Gain 17921354
nsv827781 CNV Gain 20364138
nsv907074 CNV Loss 21882294
nsv907075 CNV Loss 21882294
nsv457603 CNV Loss 19166990
nsv907076 CNV Gain 21882294
esv33856 CNV Gain 17666407

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)

Relevant External Links for ATP2C2 Gene

Human Gene Mutation Database (HGMD)
ATP2C2

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

Disorders for ATP2C2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP2C2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
speech and communication disorders
  • communication disorder
specific language impairment
reading disorder
  • specific reading disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP2C2

Genetic Association Database (GAD)
ATP2C2
Human Genome Epidemiology (HuGE) Navigator
ATP2C2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2C2
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. 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 Res. 1998) 2 3 4 67
  2. CMIP and ATP2C2 modulate phonological short-term memory in language impairment. (PMID: 19646677) Newbury D.F. … Monaco A.P. (Am. J. Hum. Genet. 2009) 3 23
  3. A novel isoform of the secretory pathway Ca2+,Mn(2+)-ATPase, hSPCA2, has unusual properties and is expressed in the brain. (PMID: 15677451) Xiang M. … Rao R. (J. Biol. Chem. 2005) 3 23
  4. The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump with high affinity for Ca2+ ions. (PMID: 15831496) Vanoevelen J. … Wuytack F. (J. Biol. Chem. 2005) 3 23
  5. Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders. (PMID: 25448322) Eicher J.D. … Gruen J.R. (Autism Res 2015) 3

Products for ATP2C2 Gene

Sources for ATP2C2 Gene

Content