Gene Gene information from NCBI Gene database.
Entrez ID 23439
Gene name ATPase Na+/K+ transporting family member beta 4
Gene symbol ATP1B4
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xq24
Summary This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membr
miRNA miRNA information provided by mirtarbase database.
364
miRTarBase ID miRNA Experiments Reference
MIRT680485 hsa-miR-6732-3p HITS-CLIP 23824327
MIRT680484 hsa-miR-10a-5p HITS-CLIP 23824327
MIRT680483 hsa-miR-10b-5p HITS-CLIP 23824327
MIRT680482 hsa-miR-6849-3p HITS-CLIP 23824327
MIRT680481 hsa-miR-339-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17592128, 32296183
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope TAS
GO:0005637 Component Nuclear inner membrane IBA
GO:0005637 Component Nuclear inner membrane IDA 17592128
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301073 808 ENSG00000101892
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UN42
Protein name Protein ATP1B4 (X,K-ATPase subunit beta-m) (X/potassium-transporting ATPase subunit beta-m)
Protein function May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00287 Na_K-ATPase 80 351 Sodium / potassium ATPase beta chain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle and at a lower level in heart. {ECO:0000269|PubMed:10456317}.
Sequence
Sequence length 357
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cGMP-PKG signaling pathway
cAMP signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Cytoskeleton in muscle cells
Insulin secretion
Thyroid hormone synthesis
Thyroid hormone signaling pathway
Aldosterone synthesis and secretion
Aldosterone-regulated sodium reabsorption
Endocrine and other factor-regulated calcium reabsorption
Proximal tubule bicarbonate reclamation
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Carbohydrate digestion and absorption
Protein digestion and absorption
Bile secretion
Mineral absorption
  SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
AA amyloidosis Associate 35130623
★☆☆☆☆
Found in Text Mining only
Amyloidosis Associate 35130623
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Associate 32682418
★☆☆☆☆
Found in Text Mining only
Endometriosis Associate 25673457
★☆☆☆☆
Found in Text Mining only