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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ADNP-related disorder Pathogenic; Likely pathogenic rs587777526, rs2515593126, rs2489790262, rs1600930164, rs1981021559 RCV004739427
RCV004739651
RCV003397234
RCV003909256
RCV004776444
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (65 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism spectrum disorder Likely pathogenic rs1980878343 RCV001291372
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism, severe Likely pathogenic; Pathogenic rs1057518991 RCV000414834
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Accessory kidney Accessory Kidney CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
ADNP syndrome ADNP Syndrome Orphanet
★☆☆☆☆
Found in Text Mining only
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Helsmoortel-Van der Aa Syndrome ORPHANET_DG 24531329
★☆☆☆☆
Found in Text Mining only
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Helsmoortel-Van der Aa Syndrome GENOMICS_ENGLAND_DG 24531329, 25294932
★☆☆☆☆
Found in Text Mining only
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Helsmoortel-Van der Aa Syndrome CLINVAR_DG 24531329, 25169753
★☆☆☆☆
Found in Text Mining only
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Helsmoortel-Van der Aa Syndrome BEFREE 27870441, 28407407, 28807863, 29475819, 29795351, 29899371, 29911927
★☆☆☆☆
Found in Text Mining only
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Helsmoortel-Van der Aa Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26639975, 31664177, 36230962, 39766225 Associate
★☆☆☆☆
Found in Text Mining only