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MYCBP2 Gene

protein-coding GIFtS: 57
GCID: GC13M077618

MYC Binding Protein 2, E3 Ubiquitin Protein Ligase

(Previous name: MYC binding protein 2)

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MalaCards

disease database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
MYC Binding Protein 2, E3 Ubiquitin Protein Ligase¹ ²		KIAA0916³ ⁵
PAM² ³ ⁵		MYC Binding Protein 2¹
Myc-Binding Protein 2² ³		Probable E3 Ubiquitin-Protein Ligase MYCBP2²
Pam/Highwire/Rpm-1 Protein² ³		EC 6.3.2.-³
Protein Associated With Myc² ³

External Ids:	HGNC: 23386¹	Entrez Gene: 23077²	Ensembl: ENSG00000005810⁷	OMIM: 610392⁵	UniProtKB: O75592³

Export aliases for MYCBP2 gene to outside databases

Previous GC identifers: GC13M075417 GC13M076517 GC13M058316

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MYCBP2 Gene:

MYCBP2 (MYC binding protein 2, E3 ubiquitin protein ligase) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592

Function: Probable E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal

degradation of target proteins. May function as a facilitator or regulator of transcriptional activation by MYC.

May have a role during synaptogenesis

Gene Wiki entry for MYCBP2 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000013.10 NT_024524.15 NC_018924.2

Regulatory elements:

Regulatory transcription factor binding sites in the MYCBP2 gene promoter:
ER-alpha ISGF-3 HOXA3 AML1a C/EBPalpha Meis-1b AREB6 CHOP-10 Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYCBP2 promoter sequence

Search Chromatin IP Primers for MYCBP2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYCBP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q22 Ensembl cytogenetic band: 13q22.3 HGNC cytogenetic band: 13q22

MYCBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYCBP2 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M077618: view genomic region (about GC identifiers)

Start:	77,618,792 bp from pter	End:	77,901,185 bp from pter
Size:	282,394 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592 (See protein sequence)

Recommended Name: Probable E3 ubiquitin-protein ligase MYCBP2

Size: 4640 amino acids; 510084 Da

Subunit: Interacts with MYC. Interacts with TSC2 (tuberin) when TSC2 is in complex with TSC1 (hamartin). Interacts

with FBXO45

Sequence caution: Sequence=AAD39842.1; Type=Frameshift; Positions=4636; Sequence=AAH37971.1; Type=Erroneous

initiation; Sequence=CAI39758.1; Type=Erroneous gene model prediction;

Secondary accessions: A6NJC6 Q5JSX8 Q5VZN6 Q6PIB6 Q9UQ11 Q9Y6E4

Alternative splicing: 2 isoforms: O75592-1 O75592-2 (Derived from EST data)

Explore the universe of human proteins at neXtProt for MYCBP2: NX_O75592

Explore proteomics data for MYCBP2 at MOPED

Post-translational modifications:

Ubiquitination² at Lys1008, Lys2094, Lys3750

Modification sites at PhosphoSitePlus

See MYCBP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_055872.4

ENSEMBL proteins:

ENSP00000444596 ENSP00000413907 ENSP00000384288 ENSP00000349892 ENSP00000353197

MYCBP2 Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for MYCBP2
	Search eBioscience for Proteins for MYCBP2
	Search GeneTex for Proteins for MYCBP2
	Search antibodies-online for proteins for MYCBP2
	Search antibodies-online for peptides for MYCBP2

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	antibodies-online antibodies for MYCBP2 (12 products)

MYCBP2 Assay Products:

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	antibodies-online kits for MYCBP2 (4 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

Selected InterPro protein domains (see all 12):

IPR004939 APC_su10/DOC_dom

IPR001841 Znf_RING

IPR014756 Ig_E-set

IPR012983 PHR

IPR009091 RCC1/BLIP-II

Graphical View of Domain Structure for InterPro Entry O75592

ProtoNet protein and cluster: O75592

2 Blocks protein domains:

IPB000408 Regulator of chromosome condensation

IPB001841 Zn-finger

UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592

Domain: The PHR domains are compact beta-sandwich folds composed of 11 antiparallel strands and decorated with

conserved apical loops. They are likely to play a structural role and mediate interactions with substrates or

partners (By similarity)

Similarity: Belongs to the highwire family

Similarity: Contains 1 B box-type zinc finger

Similarity: Contains 1 DOC domain

Similarity: Contains 1 filamin repeat

Similarity: Contains 5 RCC1 repeats

Similarity: Contains 1 RING-type zinc finger

Find genes that share domains with MYCBP2 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MYCB2_HUMAN, O75592

Function: Probable E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal

degradation of target proteins. May function as a facilitator or regulator of transcriptional activation by MYC.

May have a role during synaptogenesis

Enzyme Number (IUBMB): EC 6.3.2.-¹

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004842	ubiquitin-protein ligase activity	IEA	--
GO:0005488	binding	--	--
GO:0005515	protein binding	IPI	--
GO:0008270	zinc ion binding	IEA	--
GO:0042803	protein homodimerization activity	IEA	--

Find genes that share ontologies with MYCBP2 About GenesLikeMe

Phenotypes:
9 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Mycbp2):

behavior/neurological	cellular	growth/size/body	integument	limbs/digits/tail
mortality/aging	muscle	nervous system	respiratory system

Find genes that share phenotypes with MYCBP2 About GenesLikeMe

Animal Models:
MGI mouse knock-out Mycbp2^tm1.1Adia for MYCBP2

genOway: Develop your customized and physiologically relevant rodent model for MYCBP2

miRNA Products:		miRTarBase miRNAs that target MYCBP2: hsa-mir-183-5p (MIRT047123), hsa-mir-17-5p (MIRT050846), hsa-mir-148a-3p (MIRT048035), hsa-mir-196a-5p (MIRT048178), hsa-mir-15b-5p (MIRT046460), hsa-mir-21-5p (MIRT030878)

		Block miRNA regulation of human, mouse, rat MYCBP2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate MYCBP2 (see all 47):
		hsa-miR-300 hsa-miR-25 hsa-miR-16-1* hsa-let-7a-2* hsa-miR-371-5p hsa-miR-4325 hsa-miR-489 hsa-miR-92b

		SwitchGear 3'UTR luciferase reporter plasmid: MYCBP2 3' UTR sequence

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Gene Editing
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		GenScript: all cDNA clones in your preferred vector: MYCBP2 (NM_015057)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYCBP2
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MYCBP2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MYCBP2
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYCBP2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

MYCB2_HUMAN, O75592: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	3
cytoskeleton	2

About this image

Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0015630	microtubule cytoskeleton	IEA	--
GO:0030424	axon	IEA	--

Find genes that share ontologies with MYCBP2 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for MYCBP2 About

See pathways by source

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SuperPath

Contained pathways About

Integrated Breast Cancer Pathway

Integrated Breast Cancer Pathway

1 BioSystems Pathway for MYCBP2

Integrated Breast Cancer Pathway

UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592

Pathway: Protein modification; protein ubiquitination

Pathway & Disease-focused RT² Profiler PCR Array including MYCBP2:

Ubiquitin Ligases in human mouse rat

Interactions:

GeneGlobe Interaction Network for MYCBP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for MYCBP2 (O75592^{1, 2, 3} ENSP00000349892⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 148)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAB	P31946²^,³, ENSP00000300161⁴	MINT-50958 I2D: score=3 STRING: ENSP00000300161
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-8395092 I2D: score=1 STRING: ENSP00000238081
SFN	P31947²^,³	MINT-3975875 I2D: score=2
YWHAZ	P63104²^,³	MINT-3307735 I2D: score=1
YWHAG	P61981²^,³, ENSP00000306330⁴	MINT-50831 MINT-50384 I2D: score=3 STRING: ENSP00000306330

About this table

Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-templated	IEA	--
GO:0006355	regulation of transcription, DNA-templated	IEA	--
GO:0008045	motor neuron axon guidance	--	--
GO:0021785	branchiomotor neuron axon guidance	IEA	--
GO:0021952	central nervous system projection neuron axonogenesis	IEA	--

Find genes that share ontologies with MYCBP2 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for MYCBP2 (MYCB2)

4 HMDB Compounds for MYCBP2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for MYCBP2 gene (14 alternative transcripts):

NM_015057.4 XM_005266299.1 XM_005266300.1 XM_006719779.1 XM_006719780.1 XM_006719781.1 XM_006719782.1 XM_006719783.1

XM_006719784.1 XM_006719785.1 XM_006719786.1 XM_006719787.1 XM_006719788.1 XM_006719789.1

Unigene Cluster for MYCBP2:

MYC binding protein 2, E3 ubiquitin protein ligase

Hs.591221 [show with all ESTs]

Unigene Representative Sequence: NM_015057

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000544440(uc021rks.1 uc010aev.3) ENST00000429715 ENST00000485061

ENST00000482517 ENST00000462987 ENST00000498073 ENST00000466564 ENST00000486679

ENST00000474882 ENST00000491491 ENST00000407578 ENST00000357337(uc001vke.3 uc001vkg.1)

ENST00000360084

miRNA Products:		Block miRNA regulation of human, mouse, rat MYCBP2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate MYCBP2 (see all 47):
		hsa-miR-300 hsa-miR-25 hsa-miR-16-1* hsa-let-7a-2* hsa-miR-371-5p hsa-miR-4325 hsa-miR-489 hsa-miR-92b

		SwitchGear 3'UTR luciferase reporter plasmid: MYCBP2 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: MYCBP2 (NM_015057)
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		QuantiFast Probe-based Assays in human, mouse, rat MYCBP2

Additional mRNA sequence:

AB020723.1 AF075587.1 AF083244.1 AK000968.1 AK023888.1 AK025250.1 AK025299.1 BC037971.2

BX647202.1

24 DOTS entries:

DT.445942 DT.95136320 DT.101956478 DT.100036184 DT.40111890 DT.95136323 DT.120779329 DT.92059107

DT.99940688 DT.120779348 DT.120779355 DT.100651675 DT.120779234 DT.120779243 DT.40121982 DT.435320

DT.91924201 DT.92038334 DT.95136324 DT.97786543 DT.102830145 DT.120779333 DT.92068186 DT.95237255

Selected AceView cDNA sequences (see all 270):

AW663079 BQ063902 CD512895 BX093662 BQ721568 T87394 AJ711034 BX641381

AW964505 AL704422 AA236471 BP351664 BQ721146 AI376368 BE886946 AA969021

AL704331 AL046362 CA391747 AL046363 BU147423 CA396287 AA953089 CA394996

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYCBP2 (see all 6) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19	^	20	^	21	^	22	^
SP1:																																									-
SP2:
SP3:
SP4:													-
SP5:

ExUns:	23	^	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31a	·	31b	^	32
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for MYCBP2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MYCBP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCAATAAAAC

About this image

MYCBP2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

MYCBP2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.591221

UniProtKB/Swiss-Prot: MYCB2_HUMAN, O75592

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. Colocalized with TSC1 in one of the

filopodial extensions at the tip of a growth cone

Pathway & Disease-focused RT² Profiler PCR Array including MYCBP2:

Ubiquitin Ligases in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for MYCBP2
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat MYCBP2
		QuantiTect SYBR Green Assays in human, mouse, rat MYCBP2
		QuantiFast Probe-based Assays in human, mouse, rat MYCBP2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYCBP2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MYCBP2 gene from Selected species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mycbp2^{1 , 5}	MYC binding protein 2^{1, 5}	89.94(n)¹ 97.17(a)¹		14 (51.79 cM)⁵ 105689¹ NM_207215.2¹ NP_997098.2¹ 103113411⁵
chicken (Gallus gallus)	Aves	MYCBP2¹	MYC binding protein 2, E3 ubiquitin protein ligase	83.9(n) 94.59(a)		418808 XM_004938628.1 XP_004938685.1
lizard (Anolis carolinensis)	Reptilia	MYCBP2⁶	MYC binding protein 2, E3 ubiquitin protein ligase...	90(a)	1 ↔ 1	3(86475749-86637155)
African clawed frog (Xenopus laevis)	Amphibia	BJ056821.1²	--	79.33(n)		BJ056821.1
zebrafish (Danio rerio)	Actinopterygii	Dr.17163²	Transcribed sequence with strong similarity to protein more	79.55(n)		CA472642.1
fruit fly (Drosophila melanogaster)	Insecta	hiw¹	highwire	50.09(n) 46.47(a)		32429 NM_078604.3 NP_511159.3
worm (Caenorhabditis elegans)	Secernentea	rpm-1¹	rpm-1	45.62(n) 32.81(a)		179259 NM_072866.3 NP_505267.1

ENSEMBL Gene Tree for MYCBP2 (if available)
TreeFam Gene Tree for MYCBP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for MYCBP2 gene

3 SIMAP similar genes for MYCBP2 using alignment to 4 protein entries: MYCB2_HUMAN (see all proteins):

DKFZp586G0322 HERC3 HERC6

Find genes that share paralogs with MYCBP2 About GenesLikeMe

1 Pseudogenes.org Pseudogene for MYCBP2
PGOHUM00000235117

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141151504^1,2	C	untested¹	77672285(+)	`TTTTTC/TTTTTT`	2	K E	mis¹		0	--	--	--	--
rs193045363^1,2	C	--	77618305(+)	`AGCCTC/TGGCAA`	1	--	ds500¹		0	--	--	--	--
rs183117746^1,2		--	77618413(+)	`GGATCA/GCTTGA`	1	--	ds500¹		0	--	--	--	--
rs187003616^1,2		--	77618454(+)	`CACGCC/TGCTGT`	1	--	ds500¹		0	--	--	--	--
rs111969799^1,2	C	--	77618594(+)	`ACGAA-/AT/TA TATAT`	1	--	ds500¹		1		CSA	2
rs147887434^1,2		--	77618731(+)	`AAAACG/TGGACT`	1	--	ds500¹		0	--	--	--	--
rs78992190^1,2	F	--	77618780(+)	`AATACC/TTCCCA`	1	--	ds500¹		1		NA	120
rs141640392^1,2		--	77618793(+)	`GTGGTA/GGACTT`	1	--	ut3¹		0	--	--	--	--
rs28411709^1,2	C,F,H	--	77618997(+)	`TACAGT/GGTGAT`	1	--	ut3¹ ese³		10		EA NS NA	1168
rs78495089^1,2	C	--	77619036(+)	`ACAATG/TTTTTT`	1	--	ut3¹		1		NA	2

HapMap Linkage Disequilibrium report for MYCBP2 (77618792 - 77868792 bp, first 250kb of MYCBP2)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for MYCBP2: About this table

Variant ID	Type	Subtype	PubMed ID
esv1226195	CNV	Insertion	17803354
esv2515250	CNV	Insertion	19546169
nsv832653	CNV	Loss	17160897
nsv528143	CNV	Loss	19592680
dgv575e1	CNV	Complex	17122850

Human Gene Mutation Database (HGMD): MYCBP2

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 610392 OMIM disorders: --

Find genes that share disorders with MYCBP2 About GenesLikeMe

Genetic Association Database (GAD): MYCBP2
Human Genome Epidemiology (HuGE) Navigator: MYCBP2 (2 documents)

Export disorders for MYCBP2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MYCBP2 gene, integrated from 10 sources (see all 52):
(articles sorted by number of sources associating them with MYCBP2)

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The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)^{1, 2, 3} Dunham A.... Ross M.T. (Nature 2004)
Identification of a large Myc-binding protein that contains RCC1-like repeats. (PubMed id 9689053)^{1, 2, 3} Guo Q.... Bishop J.M. (Proc. Natl. Acad. Sci. U.S.A. 1998)
Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)^{1, 4} Trynka G....Wijmenga C. (Gut 2009)
Fbxo45 forms a novel ubiquitin ligase complex and is required for neuronal development. (PubMed id 19398581)^{1, 2} Saiga T....Nakayama K.I. (Mol. Cell. Biol. 2009)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (Cell 2006)
Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex. (PubMed id 14559897)^{1, 2} Murthy V....Ramesh V. (J. Biol. Chem. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)^{1, 2} Nakajima D.... Nagase T. (DNA Res. 2002)
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)^{1, 2} Zhang Q.-H.... Chen Z. (Genome Res. 2000)
Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)^{1, 2} Nagase T.... Ohara O. (DNA Res. 1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23077	HGNC: 23386	AceView: MYCBP2	Ensembl:ENSG00000005810	euGenes: HUgn23077
ECgene: MYCBP2	H-InvDB: MYCBP2

(According to HUGE)
About This Section

HUGE: KIAA0916

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MYCBP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYCBP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MYCBP2 gene:
Search GeneIP for patents involving MYCBP2

GeneCards and IP:
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MYC Binding Protein 2, E3 Ubiquitin Protein Ligase

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MYC Binding Protein 2, E3 Ubiquitin Protein Ligase

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