AAGAB (alpha and gamma adaptin binding protein)

2016-10-01  

Identity

HGNC
AAGAB
LOCATION
15q23
LOCUSID
79719
ALIAS
KPPP1,PPKP1,PPKP1A,p34
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79719
MIM: 614888
HGNC: 25662
Ensembl: ENSG00000103591

Variants:

dbSNP: 79719
ClinVar: 79719
TCGA: ENSG00000103591
COSMIC: AAGAB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103591ENST00000261880Q6PD74
ENSG00000103591ENST00000542650Q6PD74
ENSG00000103591ENST00000560362H0YL49
ENSG00000103591ENST00000561452Q6PD74

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383118822024Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.0
383118822024Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.0
315260462020AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.2
315260462020AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.2
304512792019Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.2
313533122019AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis.17
304512792019Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.2
313533122019AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis.17
266083632016Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.2
266083632016Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.2
245730672015Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.4
257711632015Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.0
245730672015Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.4
257711632015Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.0
241628532014A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.2

Citation

Dessen P

AAGAB (alpha and gamma adaptin binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56580/teaching-explorer/haematological-explorer/