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PALM2AKAP2 PALM2 and AKAP2 fusion [ Homo sapiens (human) ]

Gene ID: 445815, updated on 13-Mar-2020

Summary

Official Symbol
PALM2AKAP2provided by HGNC
Official Full Name
PALM2 and AKAP2 fusionprovided by HGNC
Primary source
HGNC:HGNC:33529
See related
Ensembl:ENSG00000157654 MIM:604582
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AKAP2; MISP2; PALM2; PRKA2; AKAP-2; AKAPKL; AKAP-KL; PALM2-AKAP2
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 taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019]
Expression
Broad expression in fat (RPKM 49.5), lung (RPKM 48.4) and 24 other tissues See more
Orthologs

Genomic context

See PALM2AKAP2 in Genome Data Viewer
Location:
9q31.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (109640788..110172512)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (112542577..112934792)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase non-receptor type 3 Neighboring gene microRNA 3927 Neighboring gene Y-box binding protein 1 pseudogene 6 Neighboring gene putative uncharacterized protein DDB_G0287265 Neighboring gene ribosomal protein L21 pseudogene 87 Neighboring gene uncharacterized LOC105376217 Neighboring gene tRNA-Arg (anticodon TCG) 6-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of 15 loci influencing height in a Korean population.
NHGRI GWA Catalog
Is the gene-environment interaction paradigm relevant to genome-wide studies? The case of education and body mass index.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12631, FLJ20299, FLJ32536, FLJ37684, FLJ53197, FLJ55665, FLJ98336, MGC39604, MGC181966, MGC198515, DKFZp564L0716, DKFZp686H1948

Gene Ontology Provided by GOA

Process Evidence Code Pubs
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
A-kinase anchor protein 2; PALM2-AKAP2 protein; paralemmin-2
Names
A kinase (PRKA) anchor protein 2
A-kinase anchoring protein 2
PALM2-AKAP2 fusion
PALM2-AKAP2 readthrough
paralemmin 2
protein kinase A anchoring protein 2
protein kinase A2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001004065.4NP_001004065.2  A-kinase anchor protein 2 isoform 5 (AKAP2)

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes isoform 5 (AKAP2).
    Source sequence(s)
    AL158823, AL353598, BC010513, BC146863, BC171800
    Consensus CDS
    CCDS43861.1
    UniProtKB/Swiss-Prot
    Q9Y2D5
    Related
    ENSP00000363649.1, ENST00000374525.5
    Conserved Domains (1) summary
    pfam15304
    Location:800940
    AKAP2_C; A-kinase anchor protein 2 C-terminus
  2. NM_001037293.2NP_001032370.1  paralemmin-2 isoform 2 (PALM2)

    See identical proteins and their annotated locations for NP_001032370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein, isoform 2 (PALM2), has a distinct N-terminus and is shorter than isoform 1 (PALM2).
    Source sequence(s)
    AK095003, AL353806, BC039306, BQ187933
    Consensus CDS
    CCDS35099.1
    UniProtKB/Swiss-Prot
    Q8IXS6
    Related
    ENSP00000363656.2, ENST00000374531.6
    Conserved Domains (1) summary
    pfam03285
    Location:69379
    Paralemmin; Paralemmin
  3. NM_001136562.3NP_001130034.1  A-kinase anchor protein 2 isoform 7 (AKAP2)

    See identical proteins and their annotated locations for NP_001130034.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) encodes isoform 7 (AKAP2).
    Source sequence(s)
    AK300427, AL158823, AL353598, BC010513, DC422367
    Consensus CDS
    CCDS48003.1
    UniProtKB/Swiss-Prot
    Q9Y2D5
    Related
    ENSP00000259318.7, ENST00000259318.7
    Conserved Domains (1) summary
    pfam15304
    Location:711851
    AKAP2_C; A-kinase anchor protein 2 C-terminus
  4. NM_001198656.1NP_001185585.1  A-kinase anchor protein 2 isoform 6 (AKAP2)

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes isoform 6 (AKAP2).
    Source sequence(s)
    AL158823, AL353598, BC010513, BC171800
    Consensus CDS
    CCDS56581.1
    UniProtKB/Swiss-Prot
    Q9Y2D5
    Related
    ENSP00000404782.2, ENST00000434623.6
    Conserved Domains (1) summary
    pfam15304
    Location:800953
    AKAP2_C; A-kinase anchor protein 2 C-terminus
  5. NM_007203.5NP_009134.1  PALM2-AKAP2 protein isoform 3 (PALM2-AKAP2)

    See identical proteins and their annotated locations for NP_009134.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform 3 (PALM2-AKAP2), the longest isoform.
    Source sequence(s)
    AJ303079, AL158823, AL158829, AL353598
    Consensus CDS
    CCDS35100.1
    UniProtKB/Swiss-Prot
    Q9Y2D5
    Related
    ENSP00000363654.3, ENST00000374530.7
    Conserved Domains (2) summary
    pfam03285
    Location:67165
    Paralemmin; Paralemmin
    pfam15304
    Location:9421095
    AKAP2_C; A-kinase anchor protein 2 C-terminus
  6. NM_053016.6NP_443749.5  paralemmin-2 isoform 1 (PALM2)

    See identical proteins and their annotated locations for NP_443749.5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1 (PALM2).
    Source sequence(s)
    AJ312216, AL158829, AL353806, BQ187933
    Consensus CDS
    CCDS48002.2
    UniProtKB/Swiss-Prot
    Q8IXS6
    Related
    ENSP00000323805.4, ENST00000314527.9
    Conserved Domains (1) summary
    pfam03285
    Location:67411
    Paralemmin; Paralemmin
  7. NM_147150.3NP_671492.1  PALM2-AKAP2 protein isoform 4 (PALM2-AKAP2)

    See identical proteins and their annotated locations for NP_671492.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents isoform 4 (PALM2-AKAP2).
    Source sequence(s)
    AB023137, AJ303079, AL158823, AL158829, AL353598
    Consensus CDS
    CCDS35101.1
    UniProtKB/Swiss-Prot
    Q9Y2D5
    Related
    ENSP00000305861.7, ENST00000302798.7
    Conserved Domains (2) summary
    pfam03285
    Location:67165
    Paralemmin; Paralemmin
    pfam15304
    Location:9421082
    AKAP2_C; A-kinase anchor protein 2 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    109640788..110172512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_028265.1: Suppressed sequence

    Description
    NG_028265.1: This RefSeq was removed because the gene is now thought to span a much longer range.
  2. NG_054734.1: Suppressed sequence

    Description
    NG_054734.1: This RefSeq was removed because the gene is now thought to span a much longer range.
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