Gene Gene information from NCBI Gene database.
Entrez ID 23394
Gene name Activity dependent neuroprotector homeobox
Gene symbol ADNP
Synonyms (NCBI Gene)
ADNP1HVDASMRD28
Chromosome 20
Chromosome location 20q13.13
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 invol
SNPs SNP information provided by dbSNP.
47
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.
431
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611386 15766 ENSG00000101126
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
288
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADNP-related disorder Pathogenic; Likely pathogenic rs587777526, rs2515593126, rs2489790262, rs1600930164, rs1981021559 RCV004739427
RCV004739651
RCV003397234
RCV003909256
RCV004776444
RCV003393920
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Likely pathogenic; Pathogenic rs2122740067, rs2122759209, rs2122753883, rs2122761731, rs2122764752, rs2122743080, rs2122743549, rs587777522, rs587777523, rs587777524, rs587777525, rs587777526, rs2122746230, rs2122742586, rs2122746369
View all (53 more)
RCV004796634
RCV001527604
RCV001724790
RCV001730020
RCV001807964
RCV001814826
RCV001823314
RCV000128574
RCV000128575
RCV000128576
RCV000128577
RCV000128578
RCV002077361
RCV002077363
RCV002227656
RCV002245270
RCV002249233
RCV002251122
RCV002255777
RCV002271999
RCV002283879
RCV002287608
RCV002289213
RCV002290101
RCV002471336
RCV002471588
RCV002471821
RCV000170479
RCV000170480
RCV003140434
RCV003149158
RCV000258940
RCV001265360
RCV001265359
RCV000990316
RCV003315158
RCV004787080
RCV003991505
RCV004566433
RCV004566617
RCV004594815
RCV000626043
RCV000414810
RCV005252882
RCV001618684
RCV000496157
RCV000505245
RCV000767524
RCV001265355
RCV002506518
RCV001265428
RCV000760195
RCV000760200
RCV000760258
RCV000985163
RCV000990314
RCV000990317
RCV001028054
RCV001253010
RCV005866893
RCV001253323
RCV001310249
RCV001262325
RCV001265362
RCV001265353
RCV001265361
RCV001265356
RCV001265357
RCV001265354
RCV001265358
Autism spectrum disorder Likely pathogenic rs1980878343 RCV001291372
Autism, severe Likely pathogenic; Pathogenic rs1057518991 RCV000414834
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs74417853 RCV003764455
Mesothelioma Uncertain significance rs1600956430 RCV005912374
Microcephaly Uncertain significance rs374512656, rs758627043 RCV001252728
RCV001252872
Seizure Uncertain significance rs2122757167 RCV002275902
Associations from Text MiningDisease 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