ADNP

Protein identityUniProt · HPA

UniProt accession

Q9H2P0

Gene

ADNP

Ensembl

ENSG00000101126

Chromosome

20

Canonical length

1102 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1102 residues, UniProt reviewed canonical sequence.

>Q9H2P0|ADNP
     1  MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
    61  PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
   121  LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
   181  RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
   241  IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
   301  QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
   361  QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
   421  LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
   481  IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
   541  GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
   601  ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
   661  TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
   721  QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
   781  PTRREIEKLA ASLWLWKSDI ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
   841  DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
   901  PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
   961  DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
  1021  GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
  1081  TDGVAEPMHG SLAGVKLSSQ QA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADNP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

42 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADNP.

Disease | AllUniProt

Conditions ADNP is implicated in, by any mechanism.

• Helsmoortel-van der Aa syndrome (HVDAS) MIM:615873

Disease | GeneticClinVar

167 pathogenic / likely-pathogenic of 911 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
• Inborn genetic diseases
• Intellectual disability
• ADNP-related disorder
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.12

gnomAD pLI

1

gnomAD missense Z

2.07

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cGMP-mediated signaling
• estrous cycle
• intracellular nitric oxide homeostasis
• negative regulation of gene expression
• negative regulation of neuron apoptotic process
• negative regulation of synaptic transmission
• neuron apoptotic process
• neuron differentiation
• positive regulation of axon extension
• positive regulation of canonical Wnt signaling pathway
• positive regulation of neuron projection development
• positive regulation of synapse assembly
• regulation of gene expression
• regulation of transcription by RNA polymerase II
• response to carbohydrate
• short-term memory

Molecular functions

• beta-catenin binding
• beta-tubulin binding
• chromatin binding
• copper ion binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• peptide binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• zinc ion binding

Cellular components

• axon
• chromatin
• dendrite
• extracellular space
• neuronal cell body
• nucleus
• RNA polymerase II transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Zinc finger C2H2-type
• Activity-dependent neuroprotector homeobox protein
• ADNP, zinc finger domain
• Homeodomain
• Activity-dependent neuroprotector homeobox protein N-terminal

KeywordsUniProt

• Acetylation
• Autism spectrum disorder
• Chromosome
• DNA-binding
• Homeobox
• Intellectual disability
• Isopeptide bond
• Metal-binding
• Methylation
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation
• Ubl conjugation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of ADNP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CBX1
• CBX3
• CBX5
• DYNLL1