ADNP - activity dependent neuroprotector homeobox Gene

Also Known as ADNP1; HVDAS; MRD28

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23394

About ADNP

Cytogenetic location: 20q13.13 Genomic coordinates (GRCh38): 20:50,888,918-50,931,437 (from NCBI)

This gene has 9 transcripts (splice variants), 277 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 11.8), ovary (RPKM 8.8) and 25 other tissues.

Summary

Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on Others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

ADNP Products (5)

mRNA Protein Name
NM_001282531.3 NP_001269460.1 activity-dependent neuroprotector homeobox protein
NM_001282532.2 NP_001269461.1 activity-dependent neuroprotector homeobox protein
NM_001347511.2 NP_001334440.1 activity-dependent neuroprotector homeobox protein
NM_015339.5 NP_056154.1 activity-dependent neuroprotector homeobox protein
NM_181442.4 NP_852107.1 activity-dependent neuroprotector homeobox protein
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
20562864 GOA
Cellular Component GO Annotation Evidence Références Source
part of RNA polymerase II transcription regulator complex IDA
IDA: Inferred from direct assay
29795351 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADNP Protein Structure

Homeobox

Homeobox: Homeobox domain (770 - 810)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1102 a.a.
Protein Preferred Names Protein Names

activity-dependent neuroprotector homeobox protein

  • ADNP homeobox 1

ADNP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ADNP Q9H2P0 CBX3 Homo sapiens Q13185 36950384
Intra
ADNP Q9H2P0 CBX3 Homo sapiens Q13185 21888893
Intra
ADNP Q9H2P0 CBX5 Homo sapiens P45973 21888893
Cross: Cross-species interaction Intra: Intraspecies interaction

ADNP Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P86765 ADNP Antibody (YA6458) WB, IHC-P, IHC-F, ICC/IF, IF-Tissue, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Helsmoortel-Van Der Aa Syndrome
  • HVDAS

  • Mrd28

  • Adnp Syndrome

  • Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder

  • Mental Retardation, Autosomal Dominant 28

  • Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder

  • Mental Retardation, Autosomal Dominant 28, Formerly

  • Mrd28, Formerly

  • Autosomal Dominant Mental Retardation 28

  • Adnp-Related Intellectual Disability And Autism Spectrum Disorder

  • Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder

Adnp-Related Disorder
  • Helsmoortel-Van Der Aa Syndrome

  • Adnp-Related Id/Asd

  • Adnp-Related Disorders

Motor Stereotypies
  • Motor Stereotypy

Stereotypic Movement Disorder
  • Stereotypy Habit Disorder

  • Stereotyped Repetitive Movements

  • Stereotyped Disorder

  • Stereotypes Nos

  • Stereotype Habit Disorder

Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag
  • Da Silva Syndrome

  • Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome

Corpus Callosum, Agenesis Of
  • Corpus Callosum Agenesis

  • Agenesis Of The Corpus Callosum

  • Isolated Corpus Callosum Agenesis

  • Acc

  • Non Rare In Europe: Isolated Corpus Callosum Agenesis

  • Congenital Malformation Of Corpus Callosum

  • Deformity Of Corpus Callosum

  • Absence Of Corpus Callosum

  • Absent Corpus Callosum

  • Acc - [Agenesis Of Corpus Callosum]

  • Aplasia Of Corpus Callosum

  • Congenital Absence Of Corpus Callosum

  • Hypoplastic Corpus Callosum

  • Hypoplasia Of Corpus Callosum

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Non-Syndromic X-Linked Intellectual Disability 97
  • Mrx65

  • Mrx97

  • Mrxz

  • X-Linked Mental Retardation 65

  • X-Linked Mental Retardation 97

Intellectual Developmental Disorder, Autosomal Dominant 23
  • MRD23

  • Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency

  • Mental Retardation, Autosomal Dominant 23

  • Autosomal Dominant Non-Syndromic Intellectual Disability 23

  • Autosomal Dominant Intellectual Developmental Disorder 23

  • Autosomal Dominant Mental Retardation 23

  • Mental Retardation, Autosomal Dominant, Type 23

Coffin-Siris Syndrome 1
  • Coffin-Siris Syndrome

  • Fifth Digit Syndrome

  • Css

  • CSS1

  • Mrd12

  • Mental Retardation, Autosomal Dominant 12

  • Hhid

  • Dwarfism-Onychodysplasia

  • Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

  • Autosomal Dominant Mental Retardation 12

  • Short Stature-Onychodysplasia.

  • Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

  • Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

  • Short Stature-Onychodysplasia

  • Coffin-Siris Syndrome, Type 1

  • Mental Retardation, Autosomal Dominant, Type 12

Blepharophimosis
Syndromic X-Linked Intellectual Disability Nascimento Type
  • Mental Retardation, X-Linked Syndromic, Nascimento-Type

  • X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

Autosomal Dominant Intellectual Developmental Disorder
  • Autosomal Dominant Mental Retardation

  • Autosomal Dominant Non-Syndromic Mental Retardation

  • Autosomal Dominant Non-Syndromic Intellectual Disability

  • Mental Retardation, Autosomal Dominant

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

46,Xy Sex Reversal 8
  • SRXY8

  • Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase

  • Tdd

  • 46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency

  • 46xy Sex Reversal 8

  • 46xy Sex Reversal 8, Modifier Of

  • Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase

Fetal Alcohol Syndrome
  • Fetal Alcohol Spectrum Disorders

  • Arbd

  • Arnd

  • Alcohol-Related Birth Defects

  • Alcohol-Related Neurodevelopmental Disorder

  • Fas

  • Fasd

  • Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk

  • Alcohol Related Birth Defect

  • Alcohol Related Neurodevelopmental Disorder

  • Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk

  • Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk

  • Dysmorphism Due To Alcohol

  • Fetal Etoh Syndrome

Non-Syndromic X-Linked Intellectual Disability 93
  • Mrx93

  • X-Linked Mental Retardation With Macrocephaly

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
  • Foxp1 Syndrome

  • Mental Retardation With Language Impairment And With Or Without Autistic Features

  • Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects

  • Intellectual Disability With Language Impairment And With Or Without Autistic Features

White-Sutton Syndrome
  • WHSUS

  • Mrd37

  • Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome

  • Mental Retardation, Autosomal Dominant 37

  • Autosomal Dominant Mental Retardation 37

  • Pogz-Related Intellectual Disability Syndrome

Floating-Harbor Syndrome
  • FLHS

  • Fhs

  • Pelletier-Leisti Syndrome

  • Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes

  • Leisti-Hollander-Rimoin Syndrome

Ohdo Syndrome, Sbbys Variant
  • Say-Barber-Biesecker-Young-Simpson Syndrome

  • SBBYSS

  • Young-Simpson Syndrome

  • Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

  • Yss

  • Sbbys Variant Of Ohdo Syndrome

  • Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

  • Young Simpson Syndrome

  • Sbbyss Syndrome

  • Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

  • Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

  • Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

  • Bmrs Sbbys

  • Ohdo Syndrome, Say-Barber-Biesecker Variant

  • Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

  • Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

  • Say-Barber-Biesecker Variant Of Ohdo Syndrome

Fetal Alcohol Spectrum Disorder
  • Fetal Alcohol Spectrum Disorders

  • Fetal Alcohol Syndrome

Clark-Baraitser Syndrome
  • CLABARS

  • Baraitser Syndrome

  • Autosomal Dominant Intellectual Disability 49

  • Mental Retardation, Autosomal Dominant 49, Formerly

  • Mrd49, Formerly

  • Intellectual Developmental Disorder, Autosomal Dominant 49

  • Autosomal Dominant Mental Retardation 49

  • Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features

  • Mrd49

  • Progeria Short Stature Pigmented Nevi

Cerebral Palsy, Ataxic, Autosomal Recessive
  • Ataxic Cerebral Palsy

  • Acp

  • Hypotonic Cerebral Palsy

  • Cerebral Palsy Ataxic

  • Cerebral Palsy, Atonic

  • Congenital Cerebral Palsy With Ataxia

  • Ataxic Cerebral Paralysis

  • Ataxia With Cerebral Palsy

  • Cerebral Infantile Diataxia

Ohdo Syndrome
  • Young Simpson Syndrome

  • Ohdo Blepharophimosis Syndrome

  • Blepharophimosis Syndrome Ohdo Type

  • Blepharophimosis Intellectual Disability Syndromes

  • Bmrs

  • Blepharophimosis-Intellectual Disability Syndrome

  • Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

  • Sbbys Syndrome

  • Say Barber Biesecker Young-Simpson Syndrome

  • Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

  • Bmrs, Ohdo Type

  • Blepharophimosis Syndrome, Ohdo Type

  • Ohdo-Madokoro-Sonoda Syndrome

  • Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

  • Blepharophimosis - Intellectual Disability Syndrome

Kabuki Syndrome 1
  • Kabuki Syndrome

  • Niikawa-Kuroki Syndrome

  • Kabuki Make-Up Syndrome

  • Kms

  • KABUK1

  • Kabuki Make Up Syndrome

  • Nks

  • Kabuki Makeup Syndrome

  • Kabuki Syndrome, Type 1

Weaver Syndrome
  • Wss

  • Weaver-Smith Syndrome

  • WVS

  • Weaver-Like Syndrome

  • Weaver-Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies Syndrome

  • Camptodactyly - Overgrowth - Unusual Facies

  • Ezh2 Related Overgrowth

  • Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

  • Weaver Smith Syndrome

  • Weaver Like Syndrome

  • Weaver Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies

  • Weaver Syndrome 1

  • Weaver Syndrome 2

  • Wvs1

  • Wvs2

Pervasive Developmental Disorder
  • Pervasive Development Disorder

  • Pervasive Developmental Disorders

  • Pervasive Child Development Disorders

  • Autistic Behavior

  • Autism Spectrum Disorders

Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Progressive Supranuclear Ophthalmoplegia

  • Psp

  • PSNP1

  • Familial Progressive Supranuclear Palsy

  • Richardson'S Syndrome

  • Psp Syndrome

  • Progressive Supranuclear Palsy 1

  • Supranuclear Palsy Progressive

  • Ophthalmoplegia, Supranuclear, Progressive

  • Steele-Richardson-Olszewksi Syndrome

Sotos Syndrome
  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Non-Syndromic X-Linked Intellectual Disability
  • X-Linked Non-Syndromic Intellectual Disability

  • Non-Specific X-Linked Mental Retardation

  • X-Linked Non-Specific Intellectual Disability

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ADNP RGD RGD:71030
Felis catus ADNP VGNC VGNC:59645
Macaca mulatta ADNP VGNC VGNC:69614
Mus musculus ADNP MGD MGI:1338758
Canis familiaris ADNP VGNC VGNC:37662
Bos taurus ADNP VGNC VGNC:25683
Others ADNP NCBI