Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23394
Gene name Gene Name - the full gene name approved by the HGNC.
Activity dependent neuroprotector homeobox
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADNP
Synonyms (NCBI Gene) Gene synonyms aliases
ADNP1, HVDAS, MRD28
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.13
Summary Summary of gene provided in NCBI Entrez 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 invol
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777522 AATT>- Pathogenic Coding sequence variant, frameshift variant
rs587777523 TTTA>- Pathogenic Coding sequence variant, frameshift variant
rs587777524 G>A,C,T Pathogenic Coding sequence variant, missense variant, stop gained
rs587777525 G>- Pathogenic Coding sequence variant, stop gained
rs587777526 G>A,C,T Likely-benign, pathogenic, likely-pathogenic Coding sequence variant, stop gained, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025421 hsa-miR-34a-5p Proteomics 21566225
MIRT025421 hsa-miR-34a-5p Proteomics 21566225
MIRT029262 hsa-miR-26b-5p Microarray 19088304
MIRT030862 hsa-miR-21-5p Microarray 18591254
MIRT052249 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding ISS
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611386 15766 ENSG00000101126
Protein
UniProt ID Q9H2P0
Protein name Activity-dependent neuroprotector homeobox protein (Activity-dependent neuroprotective protein)
Protein function May be involved in transcriptional regulation. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. Positively modulates WNT-beta-catenin/CTNN1B signaling, acting by regulating
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 765 813 Homeodomain Domain
Tissue specificity 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
Sequence
MFQLPVNNLGSLRKARKTVKKILSDIGLEYCKEHIEDFKQFEPNDFYLKNTTWEDVGLWD
PSLTKNQDYRTKPFCCSACPFSSKFFSAYKSHFRNVHSEDFENRILLNCPYCTFNADKKT
LETHIKIFHAPNASAPSSSLSTFKDKNKNDGLKPKQADSVEQAVYYCKKCTYRDPLYEIV
RKHIYREHFQHVAAPYIAKAGEKSLNGAVPLGSNAREESSIHCKRCLFMPKSYEALVQHV
IEDHERIGYQVTAMIGHTNVVVPRSKPLMLIAPKPQDKKSMGLPPRIGSLASGNVRSLPS
QQMVNRLSIPKPNLNSTGVNMMSSVHLQQNNYGVKSVGQGYSVGQSMRLGLGGNAPVSIP
QQSQSVKQLLPSGNGRSYGLGSEQRSQAPARYSLQSANASSLSSGQLKSPSLSQSQASRV
LGQSSSKPAAAATGPPPGNTSSTQKWKICTICNELFPENVYSVHFEKEHKAEKVPAVANY
IMKIHNFTSKCLYCNRYLPTDTLLNHMLIHGLSCPYCRSTFNDVEKMAAHMRMVHIDEEM
GPKTDSTLSFDLTLQQGSHTNIHLLVTTYNLRDAPAESVAYHAQNNPPVPPKPQPKVQEK
ADIPVKSSPQAAVPYKKDVGKTLCPLCFSILKGPISDALAHHLRERHQVIQTVHPVEKKL
TYKCIHCLGVYTSNMTASTITLHLVHCRGVGKTQNGQDKTNAPSRLNQSPSLAPVKRTYE
QMEFPLLKKRKLDDDSDSPSFFEEKPEEPVVLALDPKGHEDDSYEARKSFLTKYFNKQPY
PTRREIEKLAASLWLWKSDIASHFSNKRKKCVR
DCEKYKPGVLLGFNMKELNKVKHEMDF
DAEWLFENHDEKDSRVNASKTADKKLNLGKEDDSSSDSFENLEEESNESGSPFDPVFEVE
PKISNDNPEEHVLKVIPEDASESEEKLDQKEDGSKYETIHLTEEPTKLMHNASDSEVDQD
DVVEWKDGASPSESGPGSQQVSDFEDNTCEMKPGTWSDESSQSEDARSSKPAAKKKATMQ
GDREQLKWKNSSYGKVEGFWSKDQSQWKNASENDERLSNPQIEWQNSTIDSEDGEQFDNM
TDGVAEPMHGSLAGVKLSSQQA
Sequence length 1102
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental Delay global developmental delay rs1057518991 N/A
Mental retardation intellectual disability rs587777522, rs1135401808 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 26639975
Affective Disorders Psychotic Associate 30107084
Alzheimer Disease Associate 26639975, 31664177, 36230962, 39766225
Aneurysm Associate 36553633
Anorectal Malformations Associate 36474027
Aphasia Associate 39950682
Autism Spectrum Disorder Associate 24531329, 27790361, 29724491, 30107084, 32275126, 32887689, 33998396, 36553633, 37366052, 38254177
Autistic Disorder Associate 24531329, 27790361, 29724491, 31264075, 31664177, 32661233, 32918531, 35982159, 36230962
Bland White Garland Syndrome Associate 36553633
Blood Coagulation Disorders Associate 37525242