PVALEF (parvalbumin like EF-hand containing)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 388428
Gene name Parvalbumin like EF-hand containing
Gene symbol PVALEF
Synonyms (NCBI Gene)
AATK-AS1
Chromosome 17
Chromosome location 17q25.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005861 Component Troponin complex IBA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0A1B0GWK0
Protein name Parvalbumin-like EF-hand-containing protein
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 57 → 126 EF-hand domain pair Domain
Sequence 
MEEDFSSQMKKMALAMGTSLSDKDIELLPTDMRHHGSFNYLKFFKHIRKLHASGQLDDAI
HTAFQSLDKDKSGFIEWNEIKYILSIIPSSGPTTPLTDEEAEAMIQAADTHGDGRINYEE
FSELIKKEKIPKKK
Sequence length 134
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
CROHN'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations