Gene Gene information from NCBI Gene database.
Entrez ID 57609
Gene name Disco interacting protein 2 homolog B
Gene symbol DIP2B
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q13.12
Summary This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of
miRNA miRNA information provided by mirtarbase database.
651
miRTarBase ID miRNA Experiments Reference
MIRT936763 hsa-miR-1178 CLIP-seq
MIRT936764 hsa-miR-1244 CLIP-seq
MIRT936765 hsa-miR-1251 CLIP-seq
MIRT936766 hsa-miR-127-5p CLIP-seq
MIRT936767 hsa-miR-1282 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 15531550
GO:0005737 Component Cytoplasm IDA 15531550
GO:0007399 Process Nervous system development IEA
GO:0016020 Component Membrane HDA 19946888
GO:0030424 Component Axon IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611379 29284 ENSG00000066084
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P265
Protein name Disco-interacting protein 2 homolog B (DIP2 homolog B)
Protein function Negatively regulates axonal outgrowth and is essential for normal synaptic transmission. Not required for regulation of axon polarity. Promotes acetylation of alpha-tubulin.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06464 DMAP_binding 12 131 DMAP1-binding Domain Domain
PF00501 AMP-binding 347 819 AMP-binding enzyme Family
PF00501 AMP-binding 995 1470 AMP-binding enzyme Family
Tissue specificity TISSUE SPECIFICITY: Moderately expressed in adult brain, placenta, skeletal muscle, heart, kidney, pancreas, lung, spleen and colon. Expression was weaker in adult liver, kidney, spleen, and ovary, and in fetal brain and liver. In the brain, it is express
Sequence
MAERGLEPSPAAVAALPPEVRAQLAELELELSEGDITQKGYEKKRSKLLSPYSPQTQETD
SAVQKELRNQTPAPSAAQTSAPSKYHRTRSGGARDERYRSDIHTEAVQAALAKHKEQKMA
LPMPTKRRSTF
VQSPADACTPPDTSSASEDEGSLRRQAALSAALQQSLQNAESWINRSIQ
GSSTSSSASSTLSHGEVKGTSGSLADVFANTRIENFSAPPDVTTTTSSSSSSSSIRPANI
DLPPSGIVKGMHKGSNRSSLMDTADGVPVSSRVSTKIQQLLNTLKRPKRPPLKEFFVDDS
EEIVEVPQPDPNQPKPEGRQMTPVKGEPLGVICNWPPALESALQRWGTTQAKCSCLTALD
MTGKPVYTLTYGKLWSRSLKLAYTLLNKLGTKNEPVLKPGDRVALVYPNNDPVMFMVAFY
GCLLAEVIPVPIEVPLTRKDAGGQQIGFLLGSCGIALALTSEVCLKGLPKTQNGEIVQFK
GWPRLKWVVTDSKYLSKPPKDWQPHISPAGTEPAYIEYKTSKEGSVMGVTVSRLAMLSHC
QALSQACNYSEGETIVNVLDFKKDAGLWHGMFANVMNKMHTISVPYSVMKTCPLSWVQRV
HAHKAKVALVKCRDLHWAMMAHRDQRDVSLSSLRMLIVTDGANPWSVSSCDAFLSLFQSH
GLKPEAICPCATSAEAMTVAIRRPGVPGAPLPGRAILSMNGLSYGVIRVNTEDKNSALTV
QDVGHVMPGGMMCIVKPDGPPQLCKTDEIGEICVSSRTGGMMYFGLAGVTKNTFEVIPVN
SAGSPVGDVPFIRSGLLGFVGPGSLVFVVGKMDGLLMVS
GRRHNADDIVATGLAVESIKT
VYRGRIAVFSVSVFYDERIVVVAEQRPDASEEDSFQWMSRVLQAIDSIHQVGVYCLALVP
ANTLPKTPLGGIHISQTKQLFLEGSLHPCNILMCPHTCVTNLPKPRQKQPGVGPASVMVG
NLVAGKRIAQAAGRDLGQIEENDLVRKHQFLAEILQWRAQATPDHVLFMLLNAKGTTVCT
ASCLQLHKRAERIASVLGDKGHLNAGDNVVLLYPPGIELIAAFYGCLYAGCIPVTVRPPH
AQNLTATLPTVRMIVDVSKAACILTSQTLMRLLRSREAAAAVDVKTWPTIIDTDDLPRKR
LPQLYKPPTPEMLAYLDFSVSTTGMLTGVKMSHSAVNALCRAIKLQCELYSSRQIAICLD
PYCGLGFALWCLCSVYSGHQSVLIPPMELENNLFLWLSTVNQYKIRDTFCSYSVMELCTK
GLGNQVEVLKTRGINLSCVRTCVVVAEERPRVALQQSFSKLFKDIGLSPRAVSTTFGSRV
NVAICLQGTSGPDPTTVYVDLKSLRHDRVRLVERGAPQSLLLSESGKILPGVKVVIVNPE
TKGPVGDSHLGEIWVNSPHTASGYYTIYDSETLQADHFNTRLSFGDAAQTLWARTGYLGF
VRRTELTAATGERHDALYVVGALDETLELR
GLRYHPIDIETSVSRIHRSIAECAVFTWTN
LLVVVVELCGSEQEALDLVPLVTNVVLEEHYLIVGVVVVVDPGVIPINSRGEKQRMHLRD
SFLADQLDPIYVAYNM
Sequence length 1576
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
46
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, FRA12A type Likely pathogenic rs2540165246 RCV003989029
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs2540162995 RCV003128019
DIP2B-related disorder Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign rs11169525, rs11169524, rs151181050, rs753667447, rs2540103060, rs141470115, rs1216724467, rs2540150610, rs2540145523, rs149892884, rs74751916, rs200707959, rs764498936, rs758518613, rs148830732
View all (5 more)
RCV003908539
RCV003975841
RCV003909979
RCV003400206
RCV003420719
RCV003399905
RCV003392924
RCV003391244
RCV003902115
RCV003971990
RCV003919441
RCV003941697
RCV003924780
RCV003947132
RCV003914737
RCV003969659
RCV003935342
RCV003897957
RCV003922859
RCV003950735
Generalized non-motor (absence) seizure Uncertain significance rs2139590550 RCV002255247
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Chromophobe Associate 37004015
Alcohol Related Disorders Associate 17236128
Breast Neoplasms Associate 37004015
Carcinogenesis Associate 33481017
Carcinoma Renal Cell Associate 37004015
Colorectal Neoplasms Associate 24760461, 33481017
Developmental Disabilities Associate 37248219
Fragile X Tremor Ataxia Syndrome Associate 17236128
Hypoxia Associate 36944699
Inflammation Associate 36944699