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
382541772024Clinical impact and in vitro characterization of ADNP variants in pediatric patients.0
382821292024Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.0
386225402024Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.0
382541772024Clinical impact and in vitro characterization of ADNP variants in pediatric patients.0
382821292024Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.0
386225402024Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.0
364843922023Modulatory activity of ADNP on the hypoxia‑induced angiogenic process in glioblastoma.6
366697902023A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome.5
369450422023Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.7
375252422023ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis.0
379061462023[Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a literature review].0
364843922023Modulatory activity of ADNP on the hypoxia‑induced angiogenic process in glioblastoma.6
366697902023A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome.5
369450422023Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.7
375252422023ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis.0

Citation

Dessen P

ADNP (activity dependent neuroprotector homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/585/adnp-(activity-dependent-neuroprotector-homeobox)