Aliases for ADNP Gene
Aliases for ADNP Gene
External Ids for ADNP Gene
- HGNC: 15766
- Entrez Gene: 23394
- Ensembl: ENSG00000101126
- OMIM: 611386
- UniProtKB: Q9H2P0
Previous GeneCards Identifiers for ADNP Gene
- GC20M049235
- GC20M050145
- GC20M050192
- GC20M048940
- GC20M049505
- GC20M046255
Summaries for ADNP 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]
GeneCards Summary for ADNP Gene
ADNP (Activity Dependent Neuroprotector Homeobox) is a Protein Coding gene. Diseases associated with ADNP include Helsmoortel-Van Der Aa Syndrome and Adnp-Related Intellectual Disability And Autism Spectrum Disorder. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is ADNP2.
UniProtKB/Swiss-Prot for ADNP Gene
-
Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.
Additional gene information for ADNP Gene
- Monarch Initiative
- Search for ADNP at DataMed
- Search for ADNP at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADNP Gene
Genomics for ADNP Gene
GeneHancer (GH) Regulatory Elements for ADNP Gene
Promoters and enhancers for ADNP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ADNP on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ADNP Gene
Genomic Locations for ADNP Gene
- chr20:50,888,918-50,931,240
- (GRCh38/hg38)
- Size:
- 42,323 bases
- Orientation:
- Minus strand
- chr20:49,505,585-49,547,958
- (GRCh37/hg19)
Genomic View for ADNP Gene
Genes around ADNP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.13 by Ensembl
- 20q13.13 by Entrez Gene
- 20q13.13 by HGNC
ADNP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ADNP Gene
Proteins for ADNP Gene
-
Protein details for ADNP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H2P0-ADNP_HUMAN
- Recommended name:
- Activity-dependent neuroprotector homeobox protein
- Protein Accession:
- Q9H2P0
- E1P5Y2
- O94881
- Q5BKU2
- Q9UG34
Protein attributes for ADNP Gene
- Size:
- 1102 amino acids
- Molecular mass:
- 123563 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- When isolated from the sequence, neuroprotective peptide (NAP) provides neuroprotection against the amyloid-beta peptide.
Protein Expression for ADNP Gene
Post-translational modifications for ADNP Gene
- Ubiquitination at posLast=126126, posLast=773773, and Lys777
Other Protein References for ADNP Gene
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-
Abcam antibodies for ADNP
-
Cloud-Clone Corp. Antibodies for ADNP
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- GeneTex ADNP antibody for ADNP
-
Santa Cruz Biotechnology (SCBT) Antibodies for ADNP
Protein Products
-
OriGene Purified Proteins for ADNP
- Search Origene for MassSpec and Protein Over-expression Lysates for ADNP
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-
Cloud-Clone Corp. Proteins for ADNP
- Search GeneTex for Proteins for ADNP
-
Abcam proteins for ADNP
Assay Products
-
Cloud-Clone Corp. Assay Kits for ADNP
No data available for DME Specific Peptides for ADNP Gene
Domains & Families for ADNP Gene
Gene Families for ADNP Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for ADNP Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ADNP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ADNP Gene
Function for ADNP Gene
Molecular function for ADNP Gene
- UniProtKB/Swiss-Prot Function:
- Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.
Phenotypes From GWAS Catalog for ADNP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0005507 | copper ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 20562864 |
| GO:0042277 | peptide binding | IEA | -- |
Phenotypes for ADNP Gene
- MGI mutant phenotypes for ADNP:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ADNP:
Animal Models for ADNP Gene
- MGI Knock Outs for ADNP:
-
- Adnp tm1Goz
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for ADNP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ADNP gene
- Search ViGene Biosciences for ADNP
CRISPR Products
-
OriGene CRISPR knockouts for ADNP
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- Applied Biological Materials CRISPR for ADNP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADNP
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miRNA for ADNP Gene
- miRTarBase miRNAs that target ADNP
miRNA Products
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Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for available ADNP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ADNP gene
Clone Products
- Sino Biological Human cDNA Clone for ADNP
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ADNP
-
ViGene Biosciences adenoviral particle packaged cDNA for ADNP gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ADNP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ADNP gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ADNP Gene
Localization for ADNP Gene
Subcellular locations from UniProtKB/Swiss-Prot for ADNP Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 3 |
| extracellular | 2 |
| cytosol | 2 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0030424 | axon | IEA | -- |
| GO:0030425 | dendrite | IEA | -- |
Pathways & Interactions for ADNP Gene
No Data Available
Interacting Proteins for ADNP Gene
Selected Interacting proteins:
Q9H2P0-ADNP_HUMAN
ENSP00000342905
for ADNP Gene via
IID
STRING
UniProtKB
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007614 | short-term memory | IEA | -- |
| GO:0009743 | response to carbohydrate | IEA | -- |
| GO:0010035 | response to inorganic substance | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ADNP Gene
Transcripts for ADNP Gene
mRNA/cDNA for ADNP Gene
- (10) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (389) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ADNP Gene
CRISPR Products
-
OriGene CRISPR knockouts for ADNP
- genomics-online: gRNA clones - Search results for available ADNP gene related products
- Applied Biological Materials CRISPR for ADNP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADNP
- GenScript: Design CRISPR guide RNA sequences for ADNP
miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ADNP
- Browse OriGene Inhibitory RNA Products For ADNP
- genomics-online: shRNA clones - Search results for available ADNP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ADNP gene
Clone Products
- Sino Biological Human cDNA Clone for ADNP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available ADNP gene related products
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- Applied Biological Materials Clones for ADNP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ADNP Gene
This gene is overexpressed in Peripheral blood mononuclear cells (13.5), Fetal testis (7.0), and CD8 Tcells (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADNP Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ADNP Gene:
ADNPSOURCE GeneReport for Unigene cluster for ADNP Gene:
Hs.570355mRNA Expression by UniProt/SwissProt for ADNP Gene:
Q9H2P0-ADNP_HUMAN
Tissue specificity:
Widely expressed. Strong expression in heart, skeletal muscle, kidney and placenta. In brain, expression is stronger in the cerebellum and cortex regions. No expression detected in the colon. Strong increase of expression in colon and breast cancer tissues.
Evidence on tissue expression from TISSUES for ADNP Gene
- Nervous system(4.9)
- Liver(4.3)
- Intestine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ADNP Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- integumentary
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- face
- forehead
- head
- lip
- nose
- skull
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ADNP
-
OriGene qPCR primer pairs and template standards for ADNP
- genomics-online: primer clones - Search results for available ADNP gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ADNP Gene
Orthologs for ADNP Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ADNP 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | bta-mir-6527 34 |
|
OneToOne | |
| ADNP 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | ADNP 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ADNP 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Adnp 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Adnp 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ADNP 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ADNP 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ADNP 34 |
|
ManyToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | adnp 33 |
|
||
| Str.4445 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | adnp 33 |
|
||
| adnpb 34 |
|
OneToMany | |||
| adnpa 34 |
|
OneToMany | |||
| wufi72f04 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4117 33 |
|
- Species where no ortholog for ADNP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for ADNP Gene
(1) SIMAP similar genes for ADNP Gene using alignment to 3 proteins:
Variants for ADNP Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057518978 | pathogenic, Helsmoortel-van der aa syndrome | 50,892,396(-) | TTT/TTTT | coding_sequence_variant, frameshift | |
| rs1057518991 | likely-pathogenic, Autism, severe, intellectual deficiency | 50,894,041(-) | G/A | coding_sequence_variant, stop_gained | |
| rs11480415 | likely-benign, benign, Congenital disorder of glycosylation, not provided, Congenital disorder of glycosylation type 1E | 50,935,243(-) | /A/AA/AAA | upstream_transcript_variant | |
| rs146262101 | uncertain-significance, Congenital disorder of glycosylation | 50,935,136(-) | G/A | upstream_transcript_variant | |
| rs369538517 | likely-benign, Congenital disorder of glycosylation type 1E | 50,935,231(-) | T/C/G | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1072547 | CNV | deletion | 25765185 |
| nsv1143987 | CNV | deletion | 24896259 |
| nsv834002 | CNV | loss | 17160897 |
| nsv954057 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
3.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.16;
39.19% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ADNP Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADNP Gene
Disorders for ADNP Gene
(7) MalaCards diseases for ADNP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| helsmoortel-van der aa syndrome |
|
|
| adnp-related intellectual disability and autism spectrum disorder |
|
|
| adnp syndrome |
|
|
| autism spectrum disorder |
|
|
| blepharophimosis |
|
|
Search ADNP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ADNP_HUMAN- Helsmoortel-van der Aa syndrome (HVDAS) [MIM:615873]: A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum. {ECO:0000269 PubMed:24531329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ADNP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ADNP Gene
Publications for ADNP Gene
- Cloning and characterization of the human activity-dependent neuroprotective protein. (PMID: 11013255) Zamostiano R … Gozes I (The Journal of biological chemistry 2001) 2 3 4 22 58
- Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
- A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. (PMID: 24531329) Helsmoortel C … Van der Aa N (Nature genetics 2014) 3 4 58
- Expression of activity-dependent neuroprotective protein in the immune system: possible functions and relevance to multiple sclerosis. (PMID: 19923857) Braitch M … Constantinescu CS (Neuroimmunomodulation 2010) 3 22 58
- Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. (PMID: 17878164) Mandel S … Gozes I (The Journal of biological chemistry 2007) 3 22 58
Products for ADNP Gene
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- Invitrogen Antibodies for ADNP
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- antibodies-online: Search results for 96 available ADNP Antibodies ranked by validation data
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- GeneTex ADNP antibody for ADNP
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- ViGene Biosciences adenoviral particle packaged cDNA for ADNP gene
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Sources for ADNP Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
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