Gene Gene information from NCBI Gene database.
Entrez ID 84239
Gene name ATPase 13A4
Gene symbol ATP13A4
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q29
miRNA miRNA information provided by mirtarbase database.
224
miRTarBase ID miRNA Experiments Reference
MIRT709269 hsa-miR-660-5p HITS-CLIP 19536157
MIRT709268 hsa-miR-6729-3p HITS-CLIP 19536157
MIRT709267 hsa-miR-4286 HITS-CLIP 19536157
MIRT709266 hsa-miR-4679 HITS-CLIP 19536157
MIRT721388 hsa-miR-4786-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005768 Component Endosome IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609556 25422 ENSG00000127249
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4VNC1
Protein name Probable cation-transporting ATPase 13A4 (EC 7.2.2.-) (P5-ATPase isoform 4)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12409 P5-ATPase 16 141 P5-type ATPase cation transporter Family
PF00690 Cation_ATPase_N 152 217 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 257 464 Family
PF00702 Hydrolase 480 765 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression are also detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher than in adult brain,
Sequence
MGHFEKGQHALLNEGEENEMEIFGYRTQGCRKSLCLAGSIFSFGILPLVFYWRPAWHVWA
HCVPCSLQEADTVLLRTTDEFQIYSWKKVIWIYLSALNSAFGLTPDHPLMTDEEYIINRA
IRKPDLKVRCIKVQKIRYVWN
YLEGQFQKIGSLEDWLSSAKIHQKFGSGLTREEQEIRRL
ICGPNTIDVEVTPIWKLLIKEVLNPFYIFQLFSVCLW
FSEDYKEYAFAIIIMSIISISLT
VYDLREQSVKLHHLVESHNSITVSVCGRKAGVQELESRVLVPGDLLILTGNKVLMPCDAV
LIEGSCVVDEGMLTGESIPVTKTPLPKMDSSVPWKTQSEADYKRHVLFCGTEVIQAKAAC
SGTVRAVVLQTGFNTAKGDLVRSILYPKPVNFQLYRDAIRFLLCLVGTATIGMIYTLCVY
VLSGEPPEEVVRKALDVITIAVPPALPAALTTGIIYAQRRLKKR
GIFCISPQRINVCGQL
NLVCFDKTGTLTRDGLDLWGVVSCDRNGFQEVHSFASGQALPWGPLCAAMASCHSLILLD
GTIQGDPLDLKMFEATTWEMAFSGDDFHIKGVPAHAMVVKPCRTASQVPVEGIAILHQFP
FSSALQRMTVIVQEMGGDRLAFMKGAPERVASFCQPETVPTSFVSELQIYTTQGFRVIAL
AYKKLENDHHATTLTRETVESDLIFLGLLILENRLKEETKPVLEELISARIRTVMITGDN
LQTAITVARKSGMVSESQKVILIEANETTGSSSASISWTLVEEKK
HIMYGNQDNYINIRD
EVSDKGREGSYHFALTGKSFHVISQHFSSLLPKILINGTIFARMSPGQKSSLVEEFQKLD
YFVGMCGDGANDCGALKMAHVGISLSEQEASVASPFTSKTPNIECVPHLIKEGRAALVTS
FCMFKYMALYSMIQYVGVLLLYWETNSLSNYQFLFQDLAITTLIGVTMNLNGAYPKLVPF
RPAGRLISPPLLLSVIFNILLSLAMHIAGFILVQRQPWYSVEIHSACTVQNESISELTMS
PTAPEKMESNSTFTSFENTTVWFLGTINCITVALVFSKGKPFRQPTYTNYIFVLVLIIQL
GVCLFILFADIPELYRRLDLLCTPVLWRASIVIMLSLNFIVSLVAEEAVIENRALWMMIK
RCFGYQSKSQYRIWQRDLANDPSWPPLNQTSHSDMPECGRGVSYSNPVFESNEEQL
Sequence length 1196
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATP13A4-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Central core myopathy Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Apraxias Apraxia Pubtator 22738016 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 19731010, 29505581
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 19731010
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 22738016 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37371498 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Rolandic Rolandic epilepsy Pubtator 22738016 Associate
★☆☆☆☆
Found in Text Mining only
Optic Atrophy Autosomal Dominant Optic atrophy Pubtator 26620927 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 29505581
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 30501451
★☆☆☆☆
Found in Text Mining only