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

    Gene ID: 445815, updated on 14-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:33529
    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; 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
    mouse all
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    Genomic context

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    See PALM2AKAP2 in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (109640787..110172512)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121810203..122342040)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (112403067..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 Sharpr-MPRA regulatory region 9563 Neighboring gene NANOG hESC enhancer GRCh37_chr9:112483239-112483742 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104485 Neighboring gene putative uncharacterized protein DDB_G0287265 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104519 Neighboring gene Sharpr-MPRA regulatory region 11524 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:112578478-112579677 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28781 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104594 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:112767573-112768074 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104606 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:112809348-112809922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:112810496-112811069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20171 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:112831420-112832619 Neighboring gene ribosomal protein L21 pseudogene 87 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104629 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:112868296-112868903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:112887224-112887786 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:112893707-112894550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28782 Neighboring gene uncharacterized LOC124902244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28783 Neighboring gene uncharacterized LOC105376217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:112969108-112969608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:112969609-112970109 Neighboring gene chromosome 9 open reading frame 152

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. AKAP2 is upregulated in ovarian cancer, and promotes growth and migration of cancer cells. Li X, et al. Mol Med Rep, 2017 Oct. PMID 28849175, Free PMC Article
    2. Lack of association between AKAP2 and the susceptibility of adolescent idiopathic scoliosis in the Chinese population. Xu L, et al. BMC Musculoskelet Disord, 2017 Aug 24. PMID 28838314, Free PMC Article
    3. The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. Panza E, et al. Int J Mol Med, 2007 Mar. PMID 17273791
    4. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. Hendriks IA, et al. Nat Struct Mol Biol, 2017 Mar. PMID 28112733
    5. AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis. Li W, et al. J Med Genet, 2016 Jul. PMID 26989089, Free PMC Article

    See all (107) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AKAP2-anchored extracellular signal-regulated kinase 1 (ERK1) regulates cardiac myofibroblast migration.
      Title: AKAP2-anchored extracellular signal-regulated kinase 1 (ERK1) regulates cardiac myofibroblast migration.
    2. Prenylated PALM2 Promotes the Migration of Esophageal Squamous Cell Carcinoma Cells Through Activating Ezrin.
      Title: Prenylated PALM2 Promotes the Migration of Esophageal Squamous Cell Carcinoma Cells Through Activating Ezrin.
    3. study of the variants in AKAP2 gene did not support its association with the susceptibility of adolescent idiopathic scoliosis in the Chinese population.
      Title: Lack of association between AKAP2 and the susceptibility of adolescent idiopathic scoliosis in the Chinese population.
    4. expression of AKAP2 was elevated in ovarian cancer. Furthermore, overexpression of AKAP2 promoted the growth and migration of ovarian cancer cells, whereas knockdown of AKAP2 expression reduced the growth and migration of ovarian cancer cells.
      Title: AKAP2 is upregulated in ovarian cancer, and promotes growth and migration of cancer cells.
    5. AKAP2 is expressed in human prostates, its expression is elevated in metastatic prostate cancer.
      Title: A-kinase anchoring protein 2 is required for calcitonin-mediated invasion of cancer cells.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A three-stage genome-wide association study of general cognitive ability: hunting the small effects.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
    9. AKAP2 was therefore implicated as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.
      Title: AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.
    10. The complex phenotype with Kallmann syndrome and bone anomalies observed in the patient could be the result of the interruption of the AKAP2 gene.
      Title: The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001004065.4 → NP_001004065.2  PALM2-AKAP2 fusion protein 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/TrEMBL
      B4E2K2
      Related
      ENSP00000363649.1, ENST00000374525.5
      Conserved Domains (1) summary
      pfam15304
      Location:800 → 940
      AKAP2_C; A-kinase anchor protein 2 C-terminus

    2. NM_001037293.3 → NP_001032370.1  PALM2-AKAP2 fusion protein 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, AL135789, AL353806, BC039306, BQ187933
      Consensus CDS
      CCDS35099.1
      UniProtKB/TrEMBL
      C9JA33
      Related
      ENSP00000363656.2, ENST00000374531.6
      Conserved Domains (2) summary
      COG1196
      Location:10 → 126
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam03285
      Location:69 → 379
      Paralemmin

    3. NM_001136562.3 → NP_001130034.1  PALM2-AKAP2 fusion protein 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/TrEMBL
      B4E2K2
      Related
      ENSP00000259318.7, ENST00000259318.7
      Conserved Domains (1) summary
      pfam15304
      Location:711 → 851
      AKAP2_C; A-kinase anchor protein 2 C-terminus

    4. NM_001198656.1 → NP_001185585.1  PALM2-AKAP2 fusion protein 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/TrEMBL
      B4E2K2
      Related
      ENSP00000404782.2, ENST00000434623.6
      Conserved Domains (1) summary
      pfam15304
      Location:800 → 953
      AKAP2_C; A-kinase anchor protein 2 C-terminus

    5. NM_007203.5 → NP_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
      A9Z1X9, B1ALX9, B2RTU4, B3KQ00, B4DTZ2, B7ZW07, B9EJB5, Q8IXS6, Q8N9D5, Q96DU1, Q9UG26, Q9Y2D5
      UniProtKB/TrEMBL
      B4E2K2
      Related
      ENSP00000363654.3, ENST00000374530.8
      Conserved Domains (2) summary
      pfam03285
      Location:67 → 165
      Paralemmin; Paralemmin
      pfam15304
      Location:942 → 1095
      AKAP2_C; A-kinase anchor protein 2 C-terminus

    6. NM_053016.6 → NP_443749.5  PALM2-AKAP2 fusion protein 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/TrEMBL
      C9JA33
      Related
      ENSP00000323805.4, ENST00000314527.9
      Conserved Domains (2) summary
      COG1196
      Location:8 → 124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam03285
      Location:67 → 411
      Paralemmin

    7. NM_147150.3 → NP_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/TrEMBL
      B4E2K2
      Related
      ENSP00000305861.7, ENST00000302798.7
      Conserved Domains (2) summary
      pfam03285
      Location:67 → 165
      Paralemmin; Paralemmin
      pfam15304
      Location:942 → 1082
      AKAP2_C; A-kinase anchor protein 2 C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      109640787..110172512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423410.1 → XP_047279366.1  PALM2-AKAP2 protein isoform X1

    2. XM_047423411.1 → XP_047279367.1  PALM2-AKAP2 protein isoform X2

    3. XM_047423414.1 → XP_047279370.1  PALM2-AKAP2 protein isoform X5

    4. XM_047423418.1 → XP_047279374.1  PALM2-AKAP2 protein isoform X9

      UniProtKB/TrEMBL
      B4E2K2

    5. XM_047423412.1 → XP_047279368.1  PALM2-AKAP2 protein isoform X3

    6. XM_047423413.1 → XP_047279369.1  PALM2-AKAP2 protein isoform X4

    7. XM_047423415.1 → XP_047279371.1  PALM2-AKAP2 protein isoform X6

    8. XM_047423416.1 → XP_047279372.1  PALM2-AKAP2 protein isoform X7

      UniProtKB/TrEMBL
      B4E2K2

    9. XM_047423417.1 → XP_047279373.1  PALM2-AKAP2 protein isoform X8

      UniProtKB/TrEMBL
      B4E2K2

    10. XM_047423419.1 → XP_047279375.1  PALM2-AKAP2 protein isoform X10

      UniProtKB/TrEMBL
      B4E2K2

    11. XM_047423421.1 → XP_047279377.1  PALM2-AKAP2 fusion protein isoform X12

      UniProtKB/TrEMBL
      B4E2K2

    12. XM_047423420.1 → XP_047279376.1  PALM2-AKAP2 fusion protein isoform X11

      UniProtKB/TrEMBL
      B4E2K2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      121810203..122342040
      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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2D5.4 GenPept UniProtKB/Swiss-Prot:Q9Y2D5

    Gene LinkOut

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