Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23077
Gene name	MYC binding protein 2
Gene symbol	MYCBP2
Synonyms (NCBI Gene)	Myc-bp2PAMPHR1Phr
Chromosome	13
Chromosome location	13q22.3
Summary	This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this

Show/Hide all (59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030878	hsa-miR-21-5p	Microarray	18591254
MIRT050846	hsa-miR-17-5p	CLASH	23622248
MIRT050846	hsa-miR-17-5p	CLASH	23622248
MIRT048178	hsa-miR-196a-5p	CLASH	23622248
MIRT048035	hsa-miR-148a-3p	CLASH	23622248
MIRT047123	hsa-miR-183-5p	CLASH	23622248
MIRT046460	hsa-miR-15b-5p	CLASH	23622248
MIRT721112	hsa-miR-606	HITS-CLIP	19536157
MIRT721111	hsa-miR-126-5p	HITS-CLIP	19536157
MIRT721110	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721109	hsa-miR-496	HITS-CLIP	19536157
MIRT721108	hsa-miR-4795-3p	HITS-CLIP	19536157
MIRT721107	hsa-miR-6083	HITS-CLIP	19536157
MIRT440169	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT440168	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT440167	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT440169	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT440168	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT440167	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT721112	hsa-miR-606	HITS-CLIP	19536157
MIRT721111	hsa-miR-126-5p	HITS-CLIP	19536157
MIRT721110	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721109	hsa-miR-496	HITS-CLIP	19536157
MIRT721108	hsa-miR-4795-3p	HITS-CLIP	19536157
MIRT721107	hsa-miR-6083	HITS-CLIP	19536157
MIRT1167735	hsa-miR-190	CLIP-seq
MIRT1167736	hsa-miR-190b	CLIP-seq
MIRT1167737	hsa-miR-1972	CLIP-seq
MIRT1167738	hsa-miR-27a	CLIP-seq
MIRT1167739	hsa-miR-27b	CLIP-seq
MIRT1167740	hsa-miR-3074-3p	CLIP-seq
MIRT1167741	hsa-miR-3689a-5p	CLIP-seq
MIRT1167742	hsa-miR-3689b	CLIP-seq
MIRT1167743	hsa-miR-3689e	CLIP-seq
MIRT1167744	hsa-miR-3689f	CLIP-seq
MIRT1167745	hsa-miR-3977	CLIP-seq
MIRT1167746	hsa-miR-4275	CLIP-seq
MIRT1167747	hsa-miR-4302	CLIP-seq
MIRT1167748	hsa-miR-4307	CLIP-seq
MIRT1167749	hsa-miR-4729	CLIP-seq
MIRT1167750	hsa-miR-513a-5p	CLIP-seq
MIRT1167751	hsa-miR-556-3p	CLIP-seq
MIRT1551473	hsa-miR-140-5p	CLIP-seq
MIRT2048400	hsa-miR-132	CLIP-seq
MIRT2048401	hsa-miR-212	CLIP-seq
MIRT2048402	hsa-miR-338-3p	CLIP-seq
MIRT2048403	hsa-miR-4496	CLIP-seq
MIRT2277222	hsa-miR-1827	CLIP-seq
MIRT2277223	hsa-miR-2276	CLIP-seq
MIRT2277224	hsa-miR-3155	CLIP-seq
MIRT2277225	hsa-miR-3155b	CLIP-seq
MIRT2277226	hsa-miR-323b-3p	CLIP-seq
MIRT2277227	hsa-miR-371-5p	CLIP-seq
MIRT1167748	hsa-miR-4307	CLIP-seq
MIRT2277228	hsa-miR-4696	CLIP-seq
MIRT2277229	hsa-miR-4797-3p	CLIP-seq
MIRT2277230	hsa-miR-484	CLIP-seq
MIRT2576128	hsa-miR-4286	CLIP-seq
MIRT2576128	hsa-miR-4286	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	26304119
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	15161933, 15778465, 22357847, 24136289, 26496610, 27278822, 29293652, 35271311, 36931259
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26304119
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IC	29997255
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008270	Function	Zinc ion binding	IDA	29643511
GO:0008270	Function	Zinc ion binding	IEA
GO:0008582	Process	Regulation of synaptic assembly at neuromuscular junction	IBA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IDA	29643511
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	27278822
GO:0016740	Function	Transferase activity	IEA
GO:0021785	Process	Branchiomotor neuron axon guidance	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	ISS
GO:0030424	Component	Axon	IEA
GO:0031267	Function	Small GTPase binding	IDA	26304119
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	20534529
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	IMP	20534529
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0050905	Process	Neuromuscular process	ISS
GO:0051493	Process	Regulation of cytoskeleton organization	IEA
GO:0061564	Process	Axon development	ISS	30304512
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	29643511
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	29997255
GO:1902667	Process	Regulation of axon guidance	IEA
GO:1902667	Process	Regulation of axon guidance	ISS

MIM	HGNC	e!Ensembl
610392	23386	ENSG00000005810

O75592

Protein name

E3 ubiquitin-protein ligase MYCBP2 (EC 2.3.2.33) (Myc-binding protein 2) (Protein associated with Myc)

Protein function

Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues (PubMed:29643511). Shows esterification activity towards both threonin

PDB

5O6C , 6T7F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13540	RCC1_2	683 → 712		Repeat
PF00415	RCC1	958 → 1006	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF08005	PHR	1235 → 1385	PHR domain	Domain
PF08005	PHR	1726 → 1883	PHR domain	Domain
PF08239	SH3_3	2477 → 2543	Bacterial SH3 domain	Domain
PF03256	ANAPC10	3724 → 3892	Anaphase-promoting complex, subunit 10 (APC10)	Family
PF13639	zf-RING_2	4426 → 4479	Ring finger domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined, expression is exceptionally abundant in brain and thymus. Colocalizes with TSC1 and TSC2 along the neurites and in the growth cones. Highly expressed in peripheral and central neurons. Colocalized wit

Sequence

MMMCAATASPAAASSGLGGDGFYPAATFSSSPAPGALFMPVPDGSVAAAGLGLGLPAADS
RGHYQLLLSGRALADRYRRIYTAALNDRDQGGGSAGHPASRNKKILNKKKLKRKQKSKSK
VKTRSKSENLENTVIIPDIKLHSNPSAFNIYCNVRHCVLEWQKKEISLAAASKNSVQSGE
SDSDEEEESKEPPIKLPKIIEVGLCEVFELIKETRFSHPSLCLRSLQALLNVLQGQQPEG
LQSEPPEVLESLFQLLLEITVRSTGMNDSTGQSLTALSCACLFSLVASWGETGRTLQAIS
AILTNNGSHACQTIQVPTILNSLQRSVQAVLVGKIQIQDWFSNGIKKAALMHKWPLKEIS
VDEDDQCLLQNDGFFLYLLCKDGLYKIGSGYSGTVRGHIYNSTSRIRNRKEKKSWLGYAQ
GYLLYRDVNNHSMTAIRISPETLEQDGTVMLPDCHTEGQNILFTDGEYINQIAASRDDGF
VVRIFATSTEPVLQQELQLKLARKCLHACGISLFDLEKDLHIISTGFDEESAILGAGREF
ALMKTANGKIYYTGKYQSLGIKQGGPSAGKWVELPITKSPKIVHFSVGHDGSHALLVAED
GSIFFTGSASKGEDGESTKSRRQSKPYKPKKIIKMEGKIVVYTACNNGSSSVISKDGELY
MFGKDAIYSDSSSLVTDLKGHFVTQVAMGKAHTCVLMKNGEVWTFGVNNKGQCGRDTGAM
NQGGKGFGVENMATAMDEDLEEELDEKDEKSMMCPPGMHKWKLEQCMVCTVCGDCTGYGA
SCVSSGRPDRVPGGICGCGSGESGCAVCGCCKACARELDGQEARQRGILDAVKEMIPLDL
LLAVPVPGVNIEEHLQLRQEEKRQRVIRRHRLEEGRGPLVFAGPIFMNHREQALARLRSH
PAQLKHKRDKHKDGSGERGEKDASKITTYPPGSVRFDCELRAVQVSCGFHHSVVLMENGD
VYTFGYGQHGQLGHGDVNSRGCPTLVQALPGPSTQVTAGSNHTAVLLMDGQVFTFGSFSK
GQLGRPILDVPYWNAKPAPMPNIGSKYGRKATWIGASGDQTFLRIDEALINSHVLATSEI
FASKHIIGLVPASISEPPPFKCLLINKVDGSCKTFNDSEQEDLQGFGVCLDPVYDVIWRF
RPNTRELWCYNAVVADARLPSAADMQSRCSILSPELALPTGSRALTTRSHAALHILGCLD
TLAAMQDLKMGVASTEEETQAVMKVYSKEDYSVVNRFESHGGGWGYSAHSVEAIRFSADT
DILLGGLGLFGGRGEYTAKIKLFELGPDGGDHETDGDLLAETDVLAYDCAAREKYAMMFD
EPVLLQAGWWYVAWARVSGPSSDCGSHGQASITTDDGVVFQFKSSKKSNNGTDVNAGQIP
QLLYRLPTSDGSASKGKQQTSEPVHILKRSFARTVSVECFESLLSILHWSWTTLVLGVEE
LRGLKGFQFTATLLDLERLRFVGTCCLRLLRVYTCEIYPVSATGKAVVEETSKLAECIGK
TRTLLRKILSEGVDHCMVKLDNDPQGYLSQPLSLLEAVLQECHNTFTACFHSFYPTPALQ
WACLCDLLNCLDQDIQEANFKTSSSRLLAAVMSALCHTSVKLTSIFPIAYDGEVLLRSIV
KQVSTENDSTLVHRFPLLVAHMEKLSQSEENISGMTSFREVLEKMLVIVVLPVRNSLRRE
NELFSSHLVSNTCGLLASIVSELTASALGSEVDGLNSLHSVKASANRFTKTSQGRSWNTG
NGSPDAICFSVDKPGIVVVGFSVYGGGGIHEYELEVLVDDSEHAGDSTHSHRWTSLELVK
GTYTTDDSPSDIAEIRLDKVVPLKENVKYAVRLRNYGSRTANGDGGMTTVQCPDGVTFTF
STCSLSSNGTNQTRGQIPQILYYRSEFDGDLQSQLLSKANEEDKNCSRALSVVSTVVRAS
KDLLHRALAVDADDIPELLSSSSLFSMLLPLIIAYIGPVAAAIPKVAVEVFGLVQQLLPS
VAILNQKYAPPAFNPNQSTDSTTGNQPEQGLSACTTSSHYAVIESEHPYKPACVMHYKVT
FPECVRWMTIEFDPQCGTAQSEDVLRLLIPVRTVQNSGYGPKLTSVHENLNSWIELKKFS
GSSGWPTMVLVLPGNEALFSLETASDYVKDDKASFYGFKCFAIGYEFSPGPDEGVIQLEK
ELANLGGVCAAALMKKDLALPIGNELEEDLEILEEAALQVCKTHSGILGKGLALSHSPTI
LEALEGNLPLQIQSNEQSFLDDFIACVPGSSGGRLARWLQPDSYADPQKTSLILNKDDIR
CGWPTTITVQTKDQYGDVVHVPNMKVEVKAVPVSQKKMSLQQDQAKKPQRIPGSPAVTAA
SSNTDMTYGGLASPKLDVSYEPMIVKEARYIAITMMKVYENYSFEELRFASPTPKRPSEN
MLIRVNNDGTYCANWTPGAIGLYTLHVTIDGIEIDAGLEVKVKDPPKGMIPPGTQLVKPK
SEPQPNKVRKFVAKDSAGLRIRSHPSLQSEQIGIVKVNGTITFIDEIHNDDGVWLRLNDE
TIKKYVPNMNGYTEAWCLSFNQHLGKSLLVPVDESKTNTDDFFKDINSCCPQEATMQEQD
MPFLRGGPGMYKVVKTGPSGHNIRSCPNLRGIPIGMLVLGNKVKAVGEVTNSEGTWVQLD
QNSMVEFCESDEGEAWSLARDRGGNQYLRHEDEQALLDQNSQTPPPSPFSVQAFNKGASC
SAQGFDYGLGNSKGDRGNISTSSKPASTSGKSELSSKHSRSLKPDGRMSRTTADQKKPRG
TESLSASESLILKSDAAKLRSDSHSRSLSPNHNTLQTLKSDGRMPSSSRAESPGPGSRLS
SPKPKTLPANRSSPSGASSPRSSSPHDKNLPQKSTAPVKTKLDPPRERSKSDSYTLDPDT
LRKKKMPLTEPLRGRSTSPKPKSVPKDSTDSPGSENRAPSPHVVQENLHSEVVEVCTSST
LKTNSLTDSTCDDSSEFKSVDEGSNKVHFSIGKAPLKDEQEMRASPKISRKCANRHTRPK
KEKSSFLFKGDGSKPLEPAKQAMSPSVAECARAVFASFLWHEGIVHDAMACSSFLKFHPE
LSKEHAPIRSSLNSQQPTEEKETKLKNRHSLEISSALNMFNIAPHGPDISKMGSINKNKV
LSMLKEPPLHEKCEDGKTETTFEMSMHNTMKSKSPLPLTLQHLVAFWEDISLATIKAASQ
NMIFPSPGSCAVLKKKECEKENKKSKKEKKKKEKAEVRPRGNLFGEMAQLAVGGPEKDTI
CELCGESHPYPVTYHMRQAHPGCGRYAGGQGYNSIGHFCGGWAGNCGDGGIGGSTWYLVC
DRCREKYLREKQAAAREKVKQSRRKPMQVKTPRALPTMEAHQVIKANALFLLSLSSAAEP
SILCYHPAKPFQSQLPSVKEGISEDLPVKMPCLYLQTLARHHHENFVGYQDDNLFQDEMR
YLRSTSVPAPYISVTPDASPNVFEEPESNMKSMPPSLETSPITDTDLAKRTVFQRSYSVV
ASEYDKQHSILPARVKAIPRRRVNSGDTEVGSSLLRHPSPELSRLISAHSSLSKGERNFQ
WPVLAFVIQHHDLEGLEIAMKQALRKSACRVFAMEAFNWLLCNVIQTTSLHDILWHFVAS
LTPAPVEPEEEEDEENKTSKENSEQEKDTRVCEHPLSDIVIAGEAAHPLPHTFHRLLQTI
SDLMMSLPSGSSLQQMALRCWSLKFKQSDHQFLHQSNVFHHINNILSKSDDGDSEESFSI
SIQSGFEAMSQELCIVMCLKDLTSIVDIKTSSRPAMIGSLTDGSTETFWESGDEDKNKTK
NITINCVKGINARYVSVHVDNSRDLGNKVTSMTFLTGKAVEDLCRIKQVDLDSRHIGWVT
SELPGGDNHIIKIELKGPENTLRVRQVKVLGWKDGESTKIAGQISASVAQQRNCEAETLR
VFRLITSQVFGKLISGDAEPTPEQEEKALLSSPEGEEKVYNATSDADLKEHMVGIIFSRS
KLTNLQKQVCAHIVQAIRMEATRVREEWEHAISSKENANSQPNDEDASSDAYCFELLSMV
LALSGSNVGRQYLAQQLTLLQDLFSLLHTASPRVQRQVTSLLRRVLPEVTPSRLASIIGV
KSLPPADISDIIHSTEKGDWNKLGILDMFLGCIAKALTVQLKAKGTTITGTAGTTVGKGV
TTVTLPMIFNSSYLRRGESHWWMKGSTPTQISEIIIKLIKDMAAGHLSEAWSRVTKNAIA
ETIIALTKMEEEFRSPVRCIATTRLWLALASLCVLDQDHVDRLSSGRWMGKDGQQKQMPM
CDNHDDGETAAIILCNVCGNLCTDCDRFLHLHRRTKTHQRQVFKEEEEAIKVDLHEGCGR
TKLFWLMALADSKTMKAMVEFREHTGKPTTSSSEACRFCGSRSGTELSAVGSVCSDADCQ
EYAKIACSKTHPCGHPCGGVKNEEHCLPCLHGCDKSATSLKQDADDMCMICFTEALSAAP
AIQLDCSHIFHLQCCRRVLENRWLGPRITFGFISCPICKNKINHIVLKDLLDPIKELYED
VRRKALMRLEYEGLHKSEAITTPGVRFYNDPAGYAMNRYAYYVCYKCRKAYFGGEARCDA
EAGRGDDYDPRELICGACSDVSRAQMCPKHGTDFLEYKCRYCCSVAVFFCFGTTHFCNAC
HDDFQRMTSIPKEELPHCPAGPKGKQLEGTECPLHVVHPPTGEEFALGCGVCRNAHTF

Sequence length

4678

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
See cases	Pathogenic	rs2072494900	RCV003328106

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs117836900	RCV005908319
Autism spectrum disorder due to AUTS2 deficiency	Uncertain significance	rs2549068734	RCV003330163
Cervical cancer	Benign	rs117836900, rs374242789	RCV005908321 RCV005871002
Gastric cancer	Benign	rs76744435, rs117836900, rs79698158	RCV005938984 RCV005908322 RCV005910280
Global developmental delay	Uncertain significance	rs2154337935	RCV001779397
Lung cancer	Uncertain significance	rs147976490	RCV005897337
Malignant tumor of esophagus	Benign	rs76744435, rs117836900, rs79698158	RCV005938983 RCV005908320 RCV005910279
Melanoma	Uncertain significance	rs144934192	RCV005939170
MYCBP2-associated disorder	Uncertain significance	rs949085474	RCV003494008
MYCBP2-related disorder	Uncertain significance; Likely benign; Benign	rs1274577968, rs2503548054, rs2549131334, rs2549248681, rs61753807, rs150009936, rs61749892, rs754197897, rs200219506, rs114006768, rs763094211, rs753119277, rs368544796, rs565792205, rs35696375 View all (50 more)	RCV003234743 RCV003410802 RCV003397750 RCV003391501 RCV003954136 RCV003954137 RCV003929049 RCV003939272 RCV003924095 RCV003924122 RCV003929779 RCV003931899 RCV003981565 RCV003964655 RCV003974341 RCV003974610 RCV003893882 RCV003974187 RCV003984652 RCV003984782 RCV003964459 RCV003974060 RCV003967254 RCV003911617 RCV003897292 RCV003909545 RCV003933873 RCV003952063 RCV003952161 RCV003961808 RCV003959617 RCV003959807 RCV003981228 RCV003931776 RCV003927036 RCV003924581 RCV003927279 RCV003939767 RCV003951777 RCV003959206 RCV003944453 RCV003961444 RCV003944526 RCV003914483 RCV003939298 RCV003921940 RCV003932172 RCV003947030 RCV003944665 RCV003964364 RCV003947251 RCV003957245 RCV003947275 RCV003959428 RCV003971585 RCV003962054 RCV003972218 RCV003978283 RCV003916072 RCV003960835 RCV003978359 RCV003916073 RCV003920758 RCV003950488 RCV003968181 RCV003922873 RCV003916037 RCV003935955
Ovarian serous cystadenocarcinoma	Benign	rs117836900	RCV005908323
Prostate cancer	Uncertain significance	rs193920951	RCV000149226
Thymoma	Benign	rs117836900	RCV005908324
Thyroid cancer, nonmedullary, 1	Benign	rs117836900, rs35887505	RCV005908325 RCV005910211

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aphasia Conduction	Associate	40065360
Colorectal Neoplasms	Associate	29194591
Inflammation	Associate	36582246
Leukemia Promyelocytic Acute	Associate	26886259
Liver Diseases	Associate	40065360
Neoplasms	Associate	36582246
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	26517351
Prostatic Neoplasms	Associate	32800727
Splenomegaly	Inhibit	26517351
Thyroid Neoplasms	Associate	36582246

MYCBP2 (MYC binding protein 2)