Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23181
Gene name Gene Name - the full gene name approved by the HGNC.
Disco interacting protein 2 homolog A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DIP2A
Synonyms (NCBI Gene) Gene synonyms aliases
C21orf106, DIP2
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019073 hsa-miR-335-5p Microarray 18185580
MIRT045761 hsa-miR-125a-5p CLASH 23622248
MIRT042103 hsa-miR-484 CLASH 23622248
MIRT038019 hsa-miR-423-5p CLASH 23622248
MIRT714335 hsa-miR-4714-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003987 Function Acetate-CoA ligase activity IEA
GO:0005515 Function Protein binding IPI 20054002, 20860622, 25416956
GO:0005634 Component Nucleus IEA
GO:0005739 Component Mitochondrion ISS
GO:0006085 Process Acetyl-CoA biosynthetic process ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607711 17217 ENSG00000160305
Protein
UniProt ID Q14689
Protein name Disco-interacting protein 2 homolog A (DIP2 homolog A) (EC 6.2.1.1)
Protein function Catalyzes the de novo synthesis of acetyl-CoA in vitro (By similarity). Promotes acetylation of CTTN, possibly by providing the acetyl donor, ensuring correct dendritic spine morphology and synaptic transmission (By similarity). Binds to follist
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06464 DMAP_binding 9 123 DMAP1-binding Domain Domain
PF00501 AMP-binding 339 815 AMP-binding enzyme Family
PF00501 AMP-binding 991 1465 AMP-binding enzyme Family
Tissue specificity TISSUE SPECIFICITY: Low expression in all tissues tested.
Sequence
MADRGCPLEAAPLPAEVRESLAELELELSEGDITQKGYEKKRAKLLARYIPLIQGIDPSL
QAENRIPGPSQTTAAAPKQQKSRPTASRDERFRSDVHTEAVQAALAKYKERKMPMPSKRR
SVL
VHSSVETYTPPDTSSASEDEGSLRRPGRLTSTPLQSHSSVEPWLDRVIQGSSTSSSA
SSTSSHPGGRPTTAPSAAATPGAAATTALAGLEAHTHIDLHSAPPDVTTGLVEHSYFERP
QVASVRSVPRGCSGSMLETADGVPVNSRVSSKIQQLLNTLKRPKRPPLKEFFVDDFEELL
EVQQPDPNQPKPEGSETSVLRGEPLTAGVPRPPSLLATLQRWGTTQPKSPCLTALDTTGK
AVYTLTYGKLWSRSLKLAYTLLNKLTSKNEPLLKPGDRVALVFPNSDPVMFMVAFYGCLL
AELVPVPIEVPLTRKDAGSQQVGFLLGSCGVFLALTTDACQKGLPKAQTGEVAAFKGWPP
LSWLVIDGKHLAKPPKDWHPLAQDTGTGTAYIEYKTSKEGSTVGVTVSHASLLAQCRALT
QACGYSEAETLTNVLDFKRDAGLWHGVLTSVMNRMHVVSVPYALMKANPLSWIQKVCFYK
ARAALVKSRDMHWSLLAQRGQRDVSLSSLRMLIVADGANPWSISSCDAFLNVFQSRGLRP
EVICPCASSPEALTVAIRRPPDLGGPPPRKAVLSMNGLSYGVIRVDTEEKLSVLTVQDVG
QVMPGANVCVVKLEGTPYLCKTDEVGEICVSSSATGTAYYGLLGITKNVFEAVPVTTGGA
PIFDRPFTRTGLLGFIGPDNLVFIVGKLDGLMVTG
VRRHNADDVVATALAVEPMKFVYRG
RIAVFSVTVLHDDRIVLVAEQRPDASEEDSFQWMSRVLQAIDSIHQVGVYCLALVPANTL
PKAPLGGIHISETKQRFLEGTLHPCNVLMCPHTCVTNLPKPRQKQPEVGPASMIVGNLVA
GKRIAQASGRELAHLEDSDQARKFLFLADVLQWRAHTTPDHPLFLLLNAKGTVTSTATCV
QLHKRAERVAAALMEKGRLSVGDHVALVYPPGVDLIAAFYGCLYCGCVPVTVRPPHPQNL
GTTLPTVKMIVEVSKSACVLTTQAVTRLLRSKEAAAAVDIRTWPTILDTDDIPKKKIASV
FRPPSPDVLAYLDFSVSTTGILAGVKMSHAATSALCRSIKLQCELYPSRQIAICLDPYCG
LGFALWCLCSVYSGHQSVLVPPLELESNVSLWLSAVSQYKARVTFCSYSVMEMCTKGLGA
QTGVLRMKGVNLSCVRTCMVVAEERPRIALTQSFSKLFKDLGLPARAVSTTFGCRVNVAI
CLQGTAGPDPTTVYVDMRALRHDRVRLVERGSPHSLPLMESGKILPGVKVIIAHTETKGP
LGDSHLGEIWVSSPHNATGYYTVYGEEALHADHFSARLSFGDTQTIWARTGYLGFLRRTE
LTDASGGRHDALYVVGSLDETLELR
GMRYHPIDIETSVIRAHRSIAECAVFTWTNLLVVV
VELDGLEQDALDLVALVTNVVLEEHYLVVGVVVIVDPGVIPINSRGEKQRMHLRDGFLAD
QLDPIYVAYNM
Sequence length 1571
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
28191889
Unknown
Disease term Disease name Evidence References Source
Autism Spectrum Disorder autism spectrum disorder GenCC
Cataract Cataract GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 25129075
Chromosome 21 monosomy Associate 35361402
Chromosome 21 ring Associate 35361402
Genetic Diseases Inborn Associate 31759545, 33494993
Glioblastoma Associate 30542120
Language Disorders Associate 37629793
Specific Learning Disorder Associate 37629793