Gene Gene information from NCBI Gene database.
Entrez ID 22982
Gene name Disco interacting protein 2 homolog C
Gene symbol DIP2C
Synonyms (NCBI Gene)
KIAA0934
Chromosome 10
Chromosome location 10p15.3
Summary This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, O
miRNA miRNA information provided by mirtarbase database.
417
miRTarBase ID miRNA Experiments Reference
MIRT018050 hsa-miR-335-5p Microarray 18185580
MIRT019972 hsa-miR-375 Microarray 20215506
MIRT041068 hsa-miR-505-3p CLASH 23622248
MIRT040740 hsa-miR-545-3p CLASH 23622248
MIRT668719 hsa-miR-5193 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005575 Component Cellular_component ND
GO:0008150 Process Biological_process ND
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611380 29150 ENSG00000151240
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2E4
Protein name Disco-interacting protein 2 homolog C (DIP2 homolog C)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06464 DMAP_binding 7 120 DMAP1-binding Domain Domain
PF00501 AMP-binding 324 800 AMP-binding enzyme Family
PF00501 AMP-binding 976 1450 AMP-binding enzyme Family
Sequence
MADRSLEGMALPLEVRARLAELELELSEGDITQKGYEKKRSKLIGAYLPQPPRVDQALPQ
ERRAPVTPSSASRYHRRRSSGSRDERYRSDVHTEAVQAALAKHKERKMAVPMPSKRRSLV

VQTSMDAYTPPDTSSGSEDEGSVQGDSQGTPTSSQGSINMEHWISQAIHGSTTSTTSSSS
TQSGGSGAAHRLADVMAQTHIENHSAPPDVTTYTSEHSIQVERPQGSTGSRTAPKYGNAE
LMETGDGVPVSSRVSAKIQQLVNTLKRPKRPPLREFFVDDFEELLEVQQPDPNQPKPEGA
QMLAMRGEQLGVVTNWPPSLEAALQRWGTISPKAPCLTTMDTNGKPLYILTYGKLWTRSM
KVAYSILHKLGTKQEPMVRPGDRVALVFPNNDPAAFMAAFYGCLLAEVVPVPIEVPLTRK
DAGSQQIGFLLGSCGVTVALTSDACHKGLPKSPTGEIPQFKGWPKLLWFVTESKHLSKPP
RDWFPHIKDANNDTAYIEYKTCKDGSVLGVTVTRTALLTHCQALTQACGYTEAETIVNVL
DFKKDVGLWHGILTSVMNMMHVISIPYSLMKVNPLSWIQKVCQYKAKVACVKSRDMHWAL
VAHRDQRDINLSSLRMLIVADGANPWSISSCDAFLNVFQSKGLRQEVICPCASSPEALTV
AIRRPTDDSNQPPGRGVLSMHGLTYGVIRVDSEEKLSVLTVQDVGLVMPGAIMCSVKPDG
VPQLCRTDEIGELCVCAVATGTSYYGLSGMTKNTFEVFPMTSSGAPISEYPFIRTGLLGF
VGPGGLVFVVGKMDGLMVVS
GRRHNADDIVATALAVEPMKFVYRGRIAVFSVTVLHDERI
VIVAEQRPDSTEEDSFQWMSRVLQAIDSIHQVGVYCLALVPANTLPKTPLGGIHLSETKQ
LFLEGSLHPCNVLMCPHTCVTNLPKPRQKQPEIGPASVMVGNLVSGKRIAQASGRDLGQI
EDNDQARKFLFLSEVLQWRAQTTPDHILYTLLNCRGAIANSLTCVQLHKRAEKIAVMLME
RGHLQDGDHVALVYPPGIDLIAAFYGCLYAGCVPITVRPPHPQNIATTLPTVKMIVEVSR
SACLMTTQLICKLLRSREAAAAVDVRTWPLILDTDDLPKKRPAQICKPCNPDTLAYLDFS
VSTTGMLAGVKMSHAATSAFCRSIKLQCELYPSREVAICLDPYCGLGFVLWCLCSVYSGH
QSILIPPSELETNPALWLLAVSQYKVRDTFCSYSVMELCTKGLGSQTESLKARGLDLSRV
RTCVVVAEERPRIALTQSFSKLFKDLGLHPRAVSTSFGCRVNLAICLQGTSGPDPTTVYV
DMRALRHDRVRLVERGSPHSLPLMESGKILPGVRIIIANPETKGPLGDSHLGEIWVHSAH
NASGYFTIYGDESLQSDHFNSRLSFGDTQTIWARTGYLGFLRRTELTDANGERHDALYVV
GALDEAMELR
GMRYHPIDIETSVIRAHKSVTECAVFTWTNLLVVVVELDGSEQEALDLVP
LVTNVVLEEHYLIVGVVVVVDIGVIPINSRGEKQRMHLRDGFLADQLDPIYVAYNM
Sequence length 1556
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Uncertain significance rs201987227 RCV005934776
Aplasia/Hypoplasia of the phalanges of the 4th toe not provided rs190907175 RCV002463837
Cervical cancer Benign rs75415082, rs113452769 RCV005907313
RCV005903605
DIP2C-associated disorder Conflicting classifications of pathogenicity rs1954570162 RCV005622065
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bicuspid Aortic Valve Disease Associate 38421105
Breast Neoplasms Associate 22302350, 28716088
Cardiomyopathy Hypertrophic Associate 38421105
Colorectal Neoplasms Associate 34311674
Developmental Disabilities Associate 38421105
Ear Diseases Associate 38421105
Growth Disorders Associate 28716088
Heart Diseases Associate 38421105
Heart Septal Defects Atrial Associate 38421105
HEM dysplasia Associate 29620724