Aliases for ATP2B4 Gene
Aliases for ATP2B4 Gene
External Ids for ATP2B4 Gene
- HGNC: 817
- Entrez Gene: 493
- Ensembl: ENSG00000058668
- OMIM: 108732
- UniProtKB: P23634
Previous HGNC Symbols for ATP2B4 Gene
- ATP2B2
- MXRA1
Previous GeneCards Identifiers for ATP2B4 Gene
- GC01P201313
- GC01P199112
- GC01P199956
- GC01P200773
- GC01P200327
- GC01P201862
- GC01P203595
- GC01P174761
Summaries for ATP2B4 Gene
-
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP2B4 Gene
ATP2B4 (ATPase Plasma Membrane Ca2+ Transporting 4) is a Protein Coding gene. Diseases associated with ATP2B4 include Schnyder Corneal Dystrophy and Long Qt Syndrome. 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 scaffold protein binding. An important paralog of this gene is ATP2B1.
UniProtKB/Swiss-Prot for ATP2B4 Gene
-
Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity).
Additional gene information for ATP2B4 Gene
- Monarch Initiative
- Search for ATP2B4 at DataMed
- Search for ATP2B4 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2B4 Gene
Genomics for ATP2B4 Gene
GeneHancer (GH) Regulatory Elements for ATP2B4 Gene
Promoters and enhancers for ATP2B4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATP2B4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ATP2B4 gene promoter:
-
- Pax-5
- USF1
- USF-1
- ISGF-3
- Ik-2
- MAZR
- AML1a
- STAT1beta
- S8
- STAT1
Regulatory Element Products
Genomic Locations for ATP2B4 Gene
Genomic Locations for ATP2B4 Gene
- chr1:203,626,561-203,744,081
- (GRCh38/hg38)
- Size:
- 117,521 bases
- Orientation:
- Plus strand
- chr1:203,595,689-203,713,209
- (GRCh37/hg19)
- Size:
- 117,521 bases
- Orientation:
- Plus strand
Genomic View for ATP2B4 Gene
Genes around ATP2B4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by Entrez Gene
- 1q32.1 by HGNC
- 1q32.1 by Ensembl
ATP2B4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATP2B4 Gene
Proteins for ATP2B4 Gene
-
Protein details for ATP2B4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P23634-AT2B4_HUMAN
- Recommended name:
- Plasma membrane calcium-transporting ATPase 4
- Protein Accession:
- P23634
- B1APW5
- B1APW6
- Q13450
- Q13452
- Q13455
- Q16817
- Q7Z3S1
Protein attributes for ATP2B4 Gene
- Size:
- 1241 amino acids
- Molecular mass:
- 137920 Da
- Quaternary structure:
-
- Interacts with PDZD11 (PubMed:12763866). Interacts with SLC35G1 and STIM1 (PubMed:22084111). Interacts with calmodulin (PubMed:2963820, PubMed:10493800).
Protein Expression for ATP2B4 Gene
Post-translational modifications for ATP2B4 Gene
Other Protein References for ATP2B4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ATP2B4
- Novus Biologicals Antibodies for ATP2B4
-
Abcam antibodies for ATP2B4
- Invitrogen Antibodies for ATP2B4 (AFLGC-ATP2B4)
- GeneTex ATP2B4 Antibody for ATP2B4
-
Boster Bio Antibodies for ATP2B4
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATP2B4
Protein Products
-
OriGene Purified Proteins for ATP2B4
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP2B4
- Origene Custom Protein Services for ATP2B4
- Search GeneTex for Proteins for ATP2B4
-
Abcam proteins for ATP2B4
Assay Products
No data available for DME Specific Peptides for ATP2B4 Gene
Domains & Families for ATP2B4 Gene
Gene Families for ATP2B4 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for ATP2B4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP2B4 Gene
Graphical View of Domain Structure for InterPro Entry
P23634UniProtKB/Swiss-Prot:
AT2B4_HUMAN :- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
- Family:
-
- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
Function for ATP2B4 Gene
Molecular function for ATP2B4 Gene
- UniProtKB/Swiss-Prot Function:
- Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by calcium/calmodulin.
- GENATLAS Biochemistry:
- ATPase,Ca++ transporting,B4 plasma membrane,mediating the extrusion of CA2+ from the cell
Enzyme Numbers (IUBMB) for ATP2B4 Gene
Phenotypes From GWAS Catalog for ATP2B4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005388 | calcium-transporting ATPase activity | TAS,IMP | -- |
| GO:0005515 | protein binding | IPI | 11591728 |
| GO:0005516 | calmodulin binding | IDA | 8530416 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for ATP2B4 Gene
- MGI mutant phenotypes for ATP2B4:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ATP2B4:
Animal Models for ATP2B4 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ATP2B4
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATP2B4
-
CRISPR Products
-
OriGene CRISPR knockouts for ATP2B4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2B4
- genomics-online: gRNA clones - Search results for available ATP2B4 gene related products
- Applied Biological Materials CRISPR for ATP2B4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP2B4
- GenScript: Design CRISPR guide RNA sequences for ATP2B4
miRNA for ATP2B4 Gene
- miRTarBase miRNAs that target ATP2B4
-
- hsa-mir-335-5p (MIRT017163)
- hsa-mir-1-3p (MIRT023603)
- hsa-mir-21-5p (MIRT030786)
- hsa-mir-423-5p (MIRT038088)
- hsa-mir-32-5p (MIRT061739)
- hsa-mir-92a-3p (MIRT061740)
- hsa-mir-92b-3p (MIRT061743)
- hsa-mir-1277-5p (MIRT061744)
- hsa-mir-5011-5p (MIRT061748)
- hsa-mir-190a-3p (MIRT183578)
- hsa-mir-218-5p (MIRT441149)
- hsa-mir-6806-5p (MIRT496377)
- hsa-mir-4290 (MIRT496378)
- hsa-mir-488-5p (MIRT496379)
- hsa-mir-4747-3p (MIRT496380)
- hsa-mir-6083 (MIRT559365)
- hsa-mir-642a-5p (MIRT712572)
- hsa-mir-452-3p (MIRT712573)
- hsa-mir-7106-3p (MIRT712574)
- hsa-mir-6886-3p (MIRT712575)
- hsa-mir-938 (MIRT712576)
- hsa-mir-18a-3p (MIRT712577)
- hsa-mir-7113-3p (MIRT712578)
- hsa-mir-6734-3p (MIRT712579)
- hsa-mir-6891-3p (MIRT712580)
- hsa-mir-6072 (MIRT712581)
- hsa-mir-6752-3p (MIRT712582)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP2B4
- Browse OriGene Inhibitory RNA Products For ATP2B4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B4
- genomics-online: shRNA clones - Search results for available ATP2B4 gene related products
Clone Products
-
OriGene ORF clones in human for ATP2B4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATP2B4
- Addgene plasmids for ATP2B4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2B4
- genomics-online: cdna clones - Search results for available ATP2B4 gene related products
- orf clones - Search results for available ATP2B4 gene related products
- Applied Biological Materials Clones for ATP2B4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ATP2B4
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP2B4 Gene
Localization for ATP2B4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATP2B4 Gene
- Cell membrane; Multi-pass membrane protein. Cell projection, cilium, flagellum membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| extracellular | 1 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 2137451 |
| GO:0005901 | caveola | TAS | 11591728 |
| GO:0016020 | membrane | IDA | 8530416 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for ATP2B4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Platelet homeostasis | ||
| 3 | Aldosterone synthesis and secretion | ||
| 4 | Calcium signaling pathway | ||
| 5 | cAMP signaling pathway | ||
Pathways by source for ATP2B4 Gene
10 Reactome pathways for ATP2B4 Gene
Interacting Proteins for ATP2B4 Gene
Selected Interacting proteins:
P23634-AT2B4_HUMAN
ENSP00000350310
for ATP2B4 Gene via
MINT
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ATP2B4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003407 | neural retina development | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IMP | 19287093 |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
| GO:0006874 | cellular calcium ion homeostasis | IDA,ISS | -- |
No data available for SIGNOR curated interactions for ATP2B4 Gene
Drugs & Compounds for ATP2B4 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
||
| Phosphate |
|
14265-44-2 |
|
Drug Products
Transcripts for ATP2B4 Gene
mRNA/cDNA for ATP2B4 Gene
- (2) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (349) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000357681 8968 bps (uc001gzw.4)
- ENST00000341360 4658 bps (uc057oox.1)
- ENST00000458092 429 bps (uc057ooy.1)
- ENST00000466407 388 bps (uc057ooz.1)
- ENST00000356729 613 bps (uc057opa.1)
Unigene Clusters for ATP2B4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ATP2B4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2B4
- genomics-online: gRNA clones - Search results for available ATP2B4 gene related products
- Applied Biological Materials CRISPR for ATP2B4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP2B4
- GenScript: Design CRISPR guide RNA sequences for ATP2B4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP2B4
- Browse OriGene Inhibitory RNA Products For ATP2B4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B4
- genomics-online: shRNA clones - Search results for available ATP2B4 gene related products
Clone Products
-
OriGene ORF clones in human for ATP2B4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATP2B4
- Addgene plasmids for ATP2B4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2B4
- genomics-online: cdna clones - Search results for available ATP2B4 gene related products
- orf clones - Search results for available ATP2B4 gene related products
- Applied Biological Materials Clones for ATP2B4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
Expression for ATP2B4 Gene
mRNA differential expression in normal tissues according to GTEx for ATP2B4 Gene
This gene is overexpressed in Colon - Sigmoid (x4.0).
This gene is overexpressed in Brain (10.7) and Retina (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP2B4 Gene
NURSA nuclear receptor signaling pathways regulating expression of ATP2B4 Gene:
ATP2B4SOURCE GeneReport for Unigene cluster for ATP2B4 Gene:
Hs.343522mRNA Expression by UniProt/SwissProt for ATP2B4 Gene:
P23634-AT2B4_HUMAN
Tissue specificity:
Isoform XB is the most abundant isoform and is expressed ubiquitously. Isoforms containing segment Z have only been detected in heart, while isoforms containing segment a have been found in heart, stomach and brain cortex.
Evidence on tissue expression from TISSUES for ATP2B4 Gene
- Nervous system(4.9)
- Heart(4.5)
- Muscle(4.5)
- Blood(4.4)
- Liver(4.2)
- Eye(2.6)
- Intestine(2.4)
- Kidney(2.4)
- Stomach(2)
Primer Products
-
OriGene qPCR primer pairs for ATP2B4
- genomics-online: primer clones - Search results for available ATP2B4 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2B4 Gene
Orthologs for ATP2B4 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATP2B4 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ATP2B4 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ATP2B4 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Atp2b4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Atp2b4 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATP2B4 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ATP2B4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATP2B4 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ATP2B4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atp2b4 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp2b4 34 |
|
OneToOne | |
| atp2b1b 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | BEST:CK01140 35 |
|
|
|
| PMCA 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | R05C11.3 35 |
|
|
|
| mca-2 34 |
|
ManyToMany | |||
| mca-3 34 |
|
ManyToMany | |||
| mca-1 34 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMC1 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ACA8 33 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.6027 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os04g0605500 33 |
|
||
| Os.24860 33 |
|
||||
| wheat (Triticum aestivum) |
Liliopsida | Ta.5013 33 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.192 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| Cin.2122 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU05154 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAPB2B4.04c 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2122 33 |
|
- Species where no ortholog for ATP2B4 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)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- 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 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for ATP2B4 Gene
- ENSEMBL:
- Gene Tree for ATP2B4 (if available)
- TreeFam:
- Gene Tree for ATP2B4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATP2B4: view image
Paralogs for ATP2B4 Gene
(6) SIMAP similar genes for ATP2B4 Gene using alignment to 7 proteins:
- AT2B4_HUMAN
- A1X4Q1_HUMAN
- A1X4Q2_HUMAN
- A7E2D8_HUMAN
- H0YDG5_HUMAN
- H7BY13_HUMAN
- H7BZS8_HUMAN
Variants for ATP2B4 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs193920934 | uncertain-significance, Malignant tumor of prostate | 203,703,713(+) | C/A | coding_sequence_variant, missense_variant | |
| rs1057519192 | uncertain-significance, not provided | 203,720,690(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1000007815 | -- | 203,684,700(+) | T/C | intron_variant | |
| rs1000026897 | -- | 203,638,237(+) | G/A | intron_variant | |
| rs1000030274 | -- | 203,722,333(+) | C/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv778n54 | CNV | loss | 21841781 |
| dgv779n54 | CNV | loss | 21841781 |
| dgv780n54 | CNV | loss | 21841781 |
| dgv781n54 | CNV | loss | 21841781 |
| dgv782n54 | CNV | loss | 21841781 |
| dgv783n54 | CNV | loss | 21841781 |
| esv26128 | CNV | gain | 19812545 |
| esv2661127 | CNV | deletion | 23128226 |
| esv2663220 | CNV | deletion | 23128226 |
| esv2721795 | CNV | deletion | 23290073 |
| esv2762217 | CNV | gain | 21179565 |
| esv3545389 | CNV | deletion | 23714750 |
| esv3588598 | CNV | loss | 21293372 |
| nsv1120076 | OTHER | inversion | 24896259 |
| nsv467994 | CNV | loss | 19166990 |
| nsv549007 | CNV | loss | 21841781 |
| nsv820549 | CNV | deletion | 20802225 |
| nsv946594 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
19.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.08;
50.74% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATP2B4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2B4 Gene
Disorders for ATP2B4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| schnyder corneal dystrophy |
|
|
| long qt syndrome |
|
|
| malaria |
|
|
Search ATP2B4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ATP2B4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ATP2B4 Gene
Publications for ATP2B4 Gene
- Analysis of mRNA expression and cloning of a novel plasma membrane Ca(2+)-ATPase splice variant in human heart. (PMID: 8700162) Santiago-García J … Zarain-Herzberg A (Molecular and cellular biochemistry 1996) 3 4 22 58
- Analysis of the tissue-specific distribution of mRNAs encoding the plasma membrane calcium-pumping ATPases and characterization of an alternately spliced form of PMCA4 at the cDNA and genomic levels. (PMID: 1531651) Brandt P … Vanaman TC (The Journal of biological chemistry 1992) 3 4 22 58
- POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. (PMID: 22084111) Krapivinsky G … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 58
- 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
- Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 44 58
Products for ATP2B4 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for ATP2B4
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ATP2B4
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP2B4
- Origene Custom Protein Services for ATP2B4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP2B4
- Browse OriGene Inhibitory RNA Products For ATP2B4
- OriGene qPCR primer pairs for ATP2B4
- OriGene CRISPR knockouts for ATP2B4
- OriGene ORF clones in human for ATP2B4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATP2B4
- GenScript: Next-day shipping of latest version cDNA ORF clones for ATP2B4 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ATP2B4
- GenScript Custom Assay Services for ATP2B4
- GenScript Custom overexpressing Cell Line Services for ATP2B4
- GenScript: Design CRISPR guide RNA sequences for ATP2B4
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ATP2B4
- Sino Biological Human cDNA Clone for ATP2B4
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ATP2B4
- Novus Biologicals proteins and lysates for ATP2B4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ATP2B4
- Abcam proteins for ATP2B4
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for ATP2B4
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ATP2B4 (AFLGC-ATP2B4)
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATP2B4
- Addgene plasmids for ATP2B4
- antibodies-online: Search results for 32 available ATP2B4 Antibodies ranked by validation data
- Compare Top ATP2B4 Antibodies
- antibodies-online: Search results for available ATP2B4 related products ranked by validation data
- antibodies-online: Search results for 10 available ATP2B4 Proteins ranked by validation data
- Compare Top ATP2B4 Proteins
- GeneTex ATP2B4 Antibody for ATP2B4
- Search GeneTex for Proteins for ATP2B4
- Santa Cruz Biotechnology (SCBT) Antibodies for ATP2B4
- Search Santa Cruz Biotechnology (SCBT) for ATP2B4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ATP2B4
- Horizon Cell Lines for ATP2B4
- genomics-online: cdna clones - Search results for available ATP2B4 gene related products
- orf clones - Search results for available ATP2B4 gene related products
- genomics-online: gRNA clones - Search results for available ATP2B4 gene related products
- genomics-online: primer clones - Search results for available ATP2B4 gene related products
- genomics-online: shRNA clones - Search results for available ATP2B4 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2B4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2B4
- GeneCopoeia miRNA 3'UTR Target clone products for ATP2B4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B4
- Boster Bio Antibodies for ATP2B4
- Browse Boster Bio ELISA Kits
Sources for ATP2B4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt