PALM2AKAP2 - PALM2 and AKAP2 fusion Gene

Also Known as AKAP2; MISP2; PALM2; PRKA2; AKAP-2; AKAPKL; AKAP-KL; PALM2-AKAP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 445815

About PALM2AKAP2

Cytogenetic location: 9q31.3 Genomic coordinates (GRCh38): 9:109,640,787-110,172,512 (from NCBI)

This gene has 17 transcripts (splice variants), 107 orthologues and 3 paralogues. Broad expression in fat (RPKM 49.5), lung (RPKM 48.4) and 24 other tissues.

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]

PALM2AKAP2 Products (7)

mRNA Protein Name
NM_001004065.4 NP_001004065.2 A-kinase anchor protein 2 isoform 5 (AKAP2)
NM_001037293.3 NP_001032370.1 A-kinase anchor protein 2 isoform 2 (PALM2)
NM_001136562.3 NP_001130034.1 A-kinase anchor protein 2 isoform 7 (AKAP2)
NM_001198656.1 NP_001185585.1 A-kinase anchor protein 2 isoform 6 (AKAP2)
NM_007203.5 NP_009134.1 PALM2-AKAP2 protein isoform 3 (PALM2-AKAP2)
NM_053016.6 NP_443749.5 A-kinase anchor protein 2 isoform 1 (PALM2)
NM_147150.3 NP_671492.1 PALM2-AKAP2 protein isoform 4 (PALM2-AKAP2)
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PALM2AKAP2 Protein Structure

Paralemmin

Paralemmin: Paralemmin (67 - 110)

RII_binding_1

RII_binding_1: RII binding domain (797 - 813)

AKAP2_C

AKAP2_C: A-kinase anchor protein 2 C-terminus (876 - 1095)

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  • 1103 a.a.
Protein Preferred Names Protein Names

A-kinase anchor protein 2

PALM2-AKAP2 protein

  • A kinase (PRKA) anchor protein 2

Related Diseases

Diseases Alias
Kallmann Syndrome
  • Hypogonadism With Anosmia

  • Kallman'S Syndrome

  • Anosmic Hypogonadism

  • Anosmic Idiopathic Hypogonadotropic Hypogonadism

  • Hypogonadotropic Hypogonadism And Anosmia

  • Hypogonadotropic Hypogonadism-Anosmia Syndrome

  • Olfacto-Genital Pathological Sequence

  • Familial Hypogonadism With Anosmia

  • Kallman Syndrome

  • Dysplasia Olfactogenitalis Of De Morsier

  • Kallmann'S Syndrome

  • Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma