Gene Gene information from NCBI Gene database.
Entrez ID 23181
Gene name Disco interacting protein 2 homolog A
Gene symbol DIP2A
Synonyms (NCBI Gene)
C21orf106DIP2
Chromosome 21
Chromosome location 21q22.3
Summary 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.
428
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003987 Function Acetate-CoA ligase activity IEA
GO:0005515 Function Protein binding IPI 20054002, 20860622, 25416956, 32296183, 32814053
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion ISS
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607711 17217 ENSG00000160305
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely pathogenic rs2059439923 RCV003127387
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DIP2A-related disorder Uncertain significance; Likely benign; Benign rs1316637894, rs767769921, rs181610004, rs776259531, rs201440461, rs201630699, rs1107065, rs2255526, rs2070435, rs535903034, rs368502145, rs574049766, rs201345375, rs202051733, rs192323584
View all (9 more)
RCV003402566
RCV003410627
RCV003919171
RCV003907046
RCV003909520
RCV003912286
RCV003977249
RCV003977406
RCV003984487
RCV003899494
RCV003913869
RCV003962151
RCV003936988
RCV003969314
RCV003922255
RCV003936913
RCV003982072
RCV003982115
RCV003971683
RCV003962033
RCV003963844
RCV003976520
RCV003981317
RCV003955831
Familial cancer of breast Uncertain significance rs200244740 RCV005929182
Long QT syndrome Likely benign; Uncertain significance rs768627699, rs1601714473 RCV000190197
RCV000986213
Associations from Text MiningDisease associations identified through Pubtator
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