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ADNP (activity dependent neuroprotector homeobox)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23394
Gene nameGene Name - the full gene name approved by the HGNC.
Activity dependent neuroprotector homeobox
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ADNP
SynonymsGene synonyms aliases
ADNP1, HVDAS, MRD28
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.13
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 20562864, 21888893, 24981860, 27705803, 29795351
GO:0005634 Component Nucleus IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Causal
Disease name Disease term dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Autism Autistic Disorder, Autistic behavior rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 24531329
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Unknown
Disease name Disease term dbSNP ID References
Accessory kidney Accessory kidney
Adnp syndrome ADNP syndrome
Anxiety disorder Anxiety
Astigmatism Astigmatism

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