ADNP (activity dependent neuroprotector homeobox)

2003-10-01  

Identity

HGNC
ADNP
LOCATION
20q13.13
LOCUSID
23394
ALIAS
ADNP1,HVDAS,MRD28
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23394
MIM: 611386
HGNC: 15766
Ensembl: ENSG00000101126

Variants:

dbSNP: 23394
ClinVar: 23394
TCGA: ENSG00000101126
COSMIC: ADNP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101126ENST00000349014Q9H2P0
ENSG00000101126ENST00000371602Q9H2P0
ENSG00000101126ENST00000396029Q9H2P0
ENSG00000101126ENST00000396032Q9H2P0
ENSG00000101126ENST00000621696Q9H2P0
ENSG00000101126ENST00000644386A0A2R8YCL6
ENSG00000101126ENST00000645081A0A2R8Y6X0

Expression (GTEx)

0
10
20
30
40
50
60
70
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
245313292014A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.86
243658672015Autophagy has a key role in the pathophysiology of schizophrenia.48
178781642007Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex.41
225549092012Activity-dependent neuroprotector homeobox protein: A candidate protein identified in serum as diagnostic biomarker for Alzheimer's disease.27
256465902015Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies.26
205988622011Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: deregulation in schizophrenia.24
251697532014The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.24
199238572010Expression of activity-dependent neuroprotective protein in the immune system: possible functions and relevance to multiple sclerosis.18
297244912019Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.17
277903612016A systematic variant annotation approach for ranking genes associated with autism spectrum disorders.14

Citation

Dessen P

ADNP (activity dependent neuroprotector homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/585/adnp