AKT2 AKT serine/threonine kinase 2

Gene ID: 208, updated on 13-Apr-2024
Gene type: protein coding
Also known as: PKBB; PRKBB; HIHGHH; PKBBETA; RAC-BETA

Summary

This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hypoinsulinemic hypoglycemia and body hemihypertrophy MedGen: C3278384OMIM: 240900GeneReviews: Not available	See labs
Type II diabetes mellitus MedGen: C0011860OMIM: 125853GeneReviews: WFS1 Spectrum Disorder	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2015-05-07) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2015-05-07) ClinGen Genome Curation Page

Genomic context

Location:: 19q13.2

Sequence:: Chromosome: 19; NC_000019.10 (40230317..40285345, complement)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for AKT2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

AKT2 database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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