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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.
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 |
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 |
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 | -- |
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 | -- |
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATP2C2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATP2C2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATP2C2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATP2C2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP2C2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atp2c2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Atp2c2 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATP2C2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATP2C2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp2c2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-28b4.8 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | SPoCk 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | pmr-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMR1 31 |
|
OneToMany | |
PMA1 33 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
specific language impairment |
|
|
dyslexia |
|
|
benign chronic pemphigus |
|
|
speech and communication disorders |
|
|
expressive language disorder |
|
|