PALM2AKAP2 (PALM2 and AKAP2 fusion)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 445815 |
| Gene name | PALM2 and AKAP2 fusion |
| Gene symbol | PALM2AKAP2 |
| Synonyms (NCBI Gene) |
AKAP-KLAKAP2AKAPKLMISP2PALM2PALM2-AKAP2PRKA2
|
| Chromosome | 9 |
| Chromosome location | 9q31.3 |
| Summary | This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other ta |
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q9Y2D5 | ||||||||||
| Protein name | PALM2-AKAP2 fusion protein (A-kinase anchor protein 2) (AKAP-2) (AKAP-KL) (Paralemmin A kinase anchor protein) (Paralemmin-2) (Protein kinase A-anchoring protein 2) (PRKA2) | ||||||||||
| Protein function | Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carri | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Tissue specificity | TISSUE SPECIFICITY: [Isoform 6]: Expressed in infantile heart and muscle, and fibroblasts. {ECO:0000269|PubMed:11478809}. | ||||||||||
| Sequence |
MEIEVSVAECKSVPGITSTPHPMDHPSAFYSPPHNGLLTDHHESLDNDVAREIRYLDEVL |
||||||||||
| Sequence length | 859 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
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)
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Related Genes
Genes most often co-reported with PALM2AKAP2 across shared curated disease and pathway associations.
5
|
|
|
Diseases Linked via Similar Genes
Diseases curated for genes most similar to PALM2AKAP2 (see Related Genes above), that are NOT already directly curated for PALM2AKAP2 itself -- a lead worth checking, not a confirmed association.
5
|
|