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Aliases for PALM2-AKAP2 Gene

Aliases for PALM2-AKAP2 Gene

  • PALM2-AKAP2 Readthrough 2 3 5
  • PALM2-AKAP2 Readthrough Transcript 3
  • PALM2-AKAP2 Protein 3
  • AKAP2 3

External Ids for PALM2-AKAP2 Gene

Previous GeneCards Identifiers for PALM2-AKAP2 Gene

  • GC09U900652
  • GC09P111582
  • GC09P111444
  • GC09P112542
  • GC09P082144

Summaries for PALM2-AKAP2 Gene

Entrez Gene Summary for PALM2-AKAP2 Gene

  • PALM2-AKAP2 mRNAs are naturally occurring read-through products of the neighboring PALM2 and AKAP2 genes that belong to the paralemmin downstream gene (PDG) family. The significance of these read-through mRNAs and the function the resulting fusion protein products have not yet been determined. Naturally occurring mutations in this gene are associated with human height. [provided by RefSeq, May 2017]

GeneCards Summary for PALM2-AKAP2 Gene

PALM2-AKAP2 (PALM2-AKAP2 Readthrough) is a Protein Coding gene. Diseases associated with PALM2-AKAP2 include Kallmann Syndrome. An important paralog of this gene is AKAP2.

Additional gene information for PALM2-AKAP2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PALM2-AKAP2 Gene

Genomics for PALM2-AKAP2 Gene

GeneHancer (GH) Regulatory Elements for PALM2-AKAP2 Gene

Promoters and enhancers for PALM2-AKAP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I109779 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.0 1029 3.6 ZSCAN4 SIN3A RAD21 YY1 ZNF335 GLIS2 SCRT2 ZNF518A ZFP69B GLIS1 PALM2-AKAP2 AKAP2 PALM2 GC09M110025
GH09I110026 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.9 +249.5 249486 6.3 FOXA2 ZFP64 ETS1 YY1 ZNF213 ATF7 FOS ZNF202 RXRA REST PALM2-AKAP2 PALM2 RPL21P87 AKAP2
GH09I109965 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.1 +188.2 188184 5.7 HDGF BMI1 BATF IRF4 RAD21 ZNF207 ATF7 ETV6 BCLAF1 IKZF2 AKAP2 PALM2-AKAP2 PALM2 GC09M110025
GH09I109971 Enhancer 1.2 Ensembl ENCODE dbSUPER 8.6 +193.5 193517 4.8 HDGF PKNOX1 SMAD1 RB1 BMI1 BATF KLF5 IRF4 ZBTB40 ZNF143 AKAP2 PALM2-AKAP2 PALM2 GC09M110025
GH09I109745 Enhancer 0.9 Ensembl ENCODE 11.3 -34.5 -34537 1.2 PKNOX1 INSM2 MAX FEZF1 ZIC2 ZNF2 YY1 ZNF335 POLR2A ZNF600 PALM2 ENSG00000232939 PALM2-AKAP2 AKAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PALM2-AKAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PALM2-AKAP2 gene promoter:

Genomic Locations for PALM2-AKAP2 Gene

Genomic Locations for PALM2-AKAP2 Gene
chr9:109,780,297-110,172,512
(GRCh38/hg38)
Size:
392,216 bases
Orientation:
Plus strand
chr9:112,542,577-112,934,792
(GRCh37/hg19)

Genomic View for PALM2-AKAP2 Gene

Genes around PALM2-AKAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PALM2-AKAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PALM2-AKAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PALM2-AKAP2 Gene

Proteins for PALM2-AKAP2 Gene

  • Protein details for PALM2-AKAP2 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    B1ALY0
    Recommended name:
    PALM2-AKAP2 readthrough
    Protein Accession:
    B1ALY0

    Protein attributes for PALM2-AKAP2 Gene

    Size:
    433 amino acids
    Molecular mass:
    47627 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PALM2-AKAP2 Gene

Post-translational modifications for PALM2-AKAP2 Gene

No Post-translational modifications

Other Protein References for PALM2-AKAP2 Gene

No data available for DME Specific Peptides for PALM2-AKAP2 Gene

Domains & Families for PALM2-AKAP2 Gene

Gene Families for PALM2-AKAP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PALM2-AKAP2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PALM2-AKAP2: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for PALM2-AKAP2 Gene

Function for PALM2-AKAP2 Gene

Phenotypes From GWAS Catalog for PALM2-AKAP2 Gene

Phenotypes for PALM2-AKAP2 Gene

genes like me logo Genes that share phenotypes with PALM2-AKAP2: view

Animal Model Products

CRISPR Products

miRNA for PALM2-AKAP2 Gene

miRTarBase miRNAs that target PALM2-AKAP2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PALM2-AKAP2 Gene

Localization for PALM2-AKAP2 Gene

Gene Ontology (GO) - Cellular Components for PALM2-AKAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PALM2-AKAP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for PALM2-AKAP2 Gene

Pathways & Interactions for PALM2-AKAP2 Gene

SuperPathways for PALM2-AKAP2 Gene

No Data Available

Interacting Proteins for PALM2-AKAP2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000363654%0d%0a9606.ENSP00000309591%0d%0a
Selected Interacting proteins: ENSP00000363654 for PALM2-AKAP2 Gene via STRING

Symbol External ID(s) Details
PRKACA

Gene Ontology (GO) - Biological Process for PALM2-AKAP2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PALM2-AKAP2 Gene

Drugs & Compounds for PALM2-AKAP2 Gene

No Compound Related Data Available

Transcripts for PALM2-AKAP2 Gene

mRNA/cDNA for PALM2-AKAP2 Gene

(2) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for PALM2-AKAP2 Gene

No ASD Table

Relevant External Links for PALM2-AKAP2 Gene

GeneLoc Exon Structure for
PALM2-AKAP2
ECgene alternative splicing isoforms for
PALM2-AKAP2

Expression for PALM2-AKAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PALM2-AKAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PALM2-AKAP2 Gene

This gene is overexpressed in Heart (30.5), Fetal heart (14.0), Pancreas (9.4), and Adipocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from MaxQB and MOPED for PALM2-AKAP2 Gene



Protein tissue co-expression partners for PALM2-AKAP2 Gene

genes like me logo Genes that share expression patterns with PALM2-AKAP2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PALM2-AKAP2 Gene

Orthologs for PALM2-AKAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PALM2-AKAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 96 (a)
ManyToMany
PALM2 34
  • 38 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 88 (a)
ManyToMany
AKAP2 33
  • 85.7 (n)
PALM2 34
  • 37 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia PALM2 34
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm20459 34
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP2 34
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AKAP2 34
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves AKAP2 34
  • 64 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii palm2 34
  • 39 (a)
OneToMany
Species where no ortholog for PALM2-AKAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PALM2-AKAP2 Gene

ENSEMBL:
Gene Tree for PALM2-AKAP2 (if available)
TreeFam:
Gene Tree for PALM2-AKAP2 (if available)

Paralogs for PALM2-AKAP2 Gene

Paralogs for PALM2-AKAP2 Gene

(2) SIMAP similar genes for PALM2-AKAP2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PALM2-AKAP2: view

Variants for PALM2-AKAP2 Gene

Sequence variations from dbSNP and Humsavar for PALM2-AKAP2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs193920924 uncertain-significance, Malignant tumor of prostate 110,136,169(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs1000007811 -- 110,107,670(+) G/A intron_variant
rs1000032814 -- 110,003,212(+) A/G intron_variant
rs1000042425 -- 110,022,679(+) T/C intron_variant
rs1000051006 -- 110,134,438(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PALM2-AKAP2 Gene

Variant ID Type Subtype PubMed ID
dgv2177e212 CNV loss 25503493
dgv494n21 CNV gain 19592680
esv1090209 CNV deletion 17803354
esv2075173 CNV deletion 18987734
esv2096560 CNV deletion 18987734
esv2195369 CNV deletion 18987734
esv2501710 CNV deletion 19546169
esv2619523 CNV deletion 19546169
esv2658904 CNV deletion 23128226
esv2672512 CNV deletion 23128226
esv2738915 CNV deletion 23290073
esv2738916 CNV deletion 23290073
esv2738919 CNV deletion 23290073
esv2738920 CNV deletion 23290073
esv2752274 CNV gain 17911159
esv28884 CNV loss 19812545
esv3309092 CNV mobile element insertion 20981092
esv3369203 CNV duplication 20981092
esv3413070 CNV insertion 20981092
esv3440538 CNV insertion 20981092
esv3573350 CNV loss 25503493
esv3621448 CNV gain 21293372
esv3621449 CNV gain 21293372
esv3621450 CNV gain 21293372
esv3621452 CNV loss 21293372
esv3621453 CNV gain 21293372
esv3621456 CNV gain 21293372
nsv1040651 CNV gain 25217958
nsv1043494 CNV gain 25217958
nsv1045508 CNV loss 25217958
nsv1076198 CNV deletion 25765185
nsv1113012 CNV deletion 24896259
nsv1117903 CNV deletion 24896259
nsv1124463 CNV deletion 24896259
nsv1125065 CNV duplication 24896259
nsv1128512 CNV deletion 24896259
nsv1132219 CNV deletion 24896259
nsv1136019 CNV deletion 24896259
nsv1137497 CNV deletion 24896259
nsv1141021 CNV deletion 24896259
nsv1148299 CNV deletion 26484159
nsv1150859 CNV deletion 26484159
nsv416423 CNV insertion 16902084
nsv428222 CNV loss 18775914
nsv466480 CNV loss 19166990
nsv466481 CNV gain 19166990
nsv471314 CNV loss 18288195
nsv471316 CNV gain 18288195
nsv476870 CNV novel sequence insertion 20440878
nsv478028 CNV novel sequence insertion 20440878
nsv499708 OTHER inversion 21111241
nsv515562 CNV gain 19592680
nsv524745 CNV gain 19592680
nsv527195 CNV loss 19592680
nsv615150 CNV loss 21841781
nsv615151 CNV gain 21841781
nsv7430 OTHER inversion 18451855
nsv831687 CNV gain 17160897
nsv831688 CNV gain+loss 17160897
nsv972441 CNV duplication 23825009

Variation tolerance for PALM2-AKAP2 Gene

Residual Variation Intolerance Score: 79.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.59; 89.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PALM2-AKAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PALM2-AKAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PALM2-AKAP2 Gene

Disorders for PALM2-AKAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PALM2-AKAP2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
kallmann syndrome
  • familial hypogonadism with anosmia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PALM2-AKAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PALM2-AKAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PALM2-AKAP2 Gene

Publications for PALM2-AKAP2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim JJ … Lee JK (Journal of human genetics 2010) 3 44 58
  3. The paralemmin protein family: identification of paralemmin-2, an isoform differentially spliced to AKAP2/AKAP-KL, and of palmdelphin, a more distant cytosolic relative. (PMID: 11478809) Hu B … Kilimann MW (Biochemical and biophysical research communications 2001) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for PALM2-AKAP2 Gene

Sources for PALM2-AKAP2 Gene

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