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PALM2 paralemmin 2 [ Homo sapiens (human) ]

Gene ID: 114299, updated on 12-Aug-2018

Summary

Official Symbol
PALM2provided by HGNC
Official Full Name
paralemmin 2provided by HGNC
Primary source
HGNC:HGNC:15845
See related
Ensembl:ENSG00000243444 Vega:OTTHUMG00000020479
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AKAP2
Expression
Biased expression in brain (RPKM 3.8), liver (RPKM 2.2) and 11 other tissues See more
Orthologs

Genomic context

See PALM2 in Genome Data Viewer
Location:
9q31.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (109640788..109951476)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (112403068..112713756)

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 PALM2-AKAP2 readthrough Neighboring gene ribosomal protein L21 pseudogene 87 Neighboring gene A-kinase anchoring protein 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.
NHGRI GWA Catalog
Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
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

Readthrough PALM2-AKAP2

Readthrough gene: PALM2-AKAP2, Included gene: AKAP2

Homology

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
paralemmin-2
Names
A kinase (PRKA) anchor protein 2

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_001037293.2NP_001032370.1  paralemmin-2 isoform b

    See identical proteins and their annotated locations for NP_001032370.1

    Status: VALIDATED

    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 isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK095003, AL353806, BC039306, BQ187933
    Consensus CDS
    CCDS35099.1
    UniProtKB/Swiss-Prot
    Q8IXS6
    Related
    ENSP00000363656.2, OTTHUMP00000021888, ENST00000374531.6, OTTHUMT00000053604
    Conserved Domains (1) summary
    pfam03285
    Location:69379
    Paralemmin; Paralemmin
  2. NM_053016.5NP_443749.5  paralemmin-2 isoform a

    See identical proteins and their annotated locations for NP_443749.5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AJ312216, AL158829, AL353806, BQ187933
    Consensus CDS
    CCDS48002.2
    UniProtKB/Swiss-Prot
    Q8IXS6
    Related
    ENSP00000323805.4, OTTHUMP00000021890, ENST00000314527.8, OTTHUMT00000053606
    Conserved Domains (1) summary
    pfam03285
    Location:67411
    Paralemmin; Paralemmin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    109640788..109951476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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