PALM2AKAP2 (PALM2 and AKAP2 fusion)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
445815
Gene name Gene Name - the full gene name approved by the HGNC.
PALM2 and AKAP2 fusion
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PALM2AKAP2
Synonyms (NCBI Gene) Gene synonyms aliases
AKAP-KL, AKAP2, AKAPKL, MISP2, PALM2, PALM2-AKAP2, PRKA2
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17474147, 32814053
GO:0005886 Component Plasma membrane IEA
GO:0007015 Process Actin filament organization IEA
GO:0007178 Process Cell surface receptor protein serine/threonine kinase signaling pathway IEA
GO:0008104 Process Intracellular protein localization IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604582 33529 ENSG00000157654
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID 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

Accession ID Position in sequence Description Type
PF15304 AKAP2_C 694 → 851 A-kinase anchor protein 2 C-terminus Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 6]: Expressed in infantile heart and muscle, and fibroblasts. {ECO:0000269|PubMed:11478809}.
Sequence 
MEIEVSVAECKSVPGITSTPHPMDHPSAFYSPPHNGLLTDHHESLDNDVAREIRYLDEVL
EANCCDSAVDGTYNGTSSPEPGAVVLVGGLSPPVHEATQPEPTERTASRQAPPHIELSNS
SPDPMAEAERTNGHSPSQPRDALGDSLQVPVSPSSTTSSRCSSRDGEFTLTTLKKEAKFE
LRAFHEDKKPSKLFEDDEHEKEQYCIRKVRPSEEMLELEKERRELIRSQAVKKNPGIAAK
WWNPPQEKTIEEQLDEEHLESHKKYKERKERRAQQEQLLLQKQLQQQQQQPPSQLCTAPA
SSHERASMIDKAKEDIVTEQIDFSAARKQFQLMENSRQAVAKGQSTPRLFSIKPFYRPLG
SVNSDKPLTNPRPPSVGGPPEDSGASAAKGQKSPGALETPSAAGSQGNTASQGKEGPYSE
PSKRGPLSKLWAEDGEFTSARAVLTVVKDDDHGILDQFSRSVNVSLTQEELDSGLDELSV
RSQDTTVLETLSNDFSMDNISDSGASNETTNALQENSLADFSLPQTPQTDNPSEGRGEGV
SKSFSDHGFYSPSSTLGDSPLVDDPLEYQAGLLVQNAIQQAIAEQVDKAVSKTSRDGAEQ
QGPEATVEEAEAAAFGSEKPQSMFEPPQVSSPVQEKRDVLPKILPAEDRALRERGPPQPL
PAVQPSGPINMEETRPEGSYFSKYSEAAELRSTASLLATQESDVMVGPFKLRSRKQRTLS
MIEEEIRAAQEREEELKRQRQVLQSTQSPRTKNAPSLPSRTCYKTAPGKIEKVKPPPSPT
TEGPSLQPDLAPEEAAGTQRPKNLMQTLMEDYETHKSKRRERMDDSSVLEATRVNRRKSA
LALRWEAGIYANQEEEDNE
Sequence length 859
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholelithiasis Cholelithiasis N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes, Diabetic retinopathy in type 2 diabetes N/A N/A GWAS
Frontotemporal dementia Frontotemporal dementia N/A N/A GWAS