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MYCBP2 MYC binding protein 2 [ Homo sapiens (human) ]

Gene ID: 23077, updated on 21-Dec-2019

Summary

Official Symbol
MYCBP2provided by HGNC
Official Full Name
MYC binding protein 2provided by HGNC
Primary source
HGNC:HGNC:23386
See related
Ensembl:ENSG00000005810 MIM:610392
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAM; Phr; PHR1; Myc-bp2
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 protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]
Expression
Ubiquitous expression in skin (RPKM 12.3), brain (RPKM 10.8) and 25 other tissues See more
Orthologs

Genomic context

See MYCBP2 in Genome Data Viewer
Location:
13q22.3
Exon count:
89
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (77044657..77327098, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (77618792..77901177, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene DEAH-box helicase 9 pseudogene 1 Neighboring gene F-box and leucine rich repeat protein 3 Neighboring gene CLN5 intracellular trafficking protein Neighboring gene MYCBP2 antisense RNA 1 Neighboring gene uncharacterized LOC107984564 Neighboring gene Sharpr-MPRA regulatory region 1150 Neighboring gene uncharacterized LOC105370271

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
NHGRI GWA Catalog
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10106, FLJ13826, FLJ21597, FLJ21646, KIAA0916, DKFZp686M08244

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ran GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
branchiomotor neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
central nervous system projection neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
circadian regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
microtubule cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase MYCBP2
Names
Highwire
MYC binding protein 2, E3 ubiquitin protein ligase
PAM/Highwire/RPM-1 protein 1
RING-type E3 ubiquitin transferase MYCBP2
myc-binding protein 2
pam/highwire/rpm-1 protein
protein associated with Myc
NP_055872.4
XP_005266356.1
XP_006719842.1
XP_006719843.1
XP_006719844.1
XP_006719845.1
XP_006719846.1
XP_006719847.1
XP_006719848.1
XP_006719849.1
XP_006719850.1
XP_006719851.1
XP_006719852.1
XP_011533306.1
XP_011533307.1
XP_016875943.1
XP_016875944.1
XP_016875945.1
XP_016875946.1
XP_016875947.1
XP_016875948.1
XP_016875949.1
XP_016875950.1
XP_016875951.1
XP_016875952.1
XP_016875953.1
XP_016875954.1
XP_016875955.1
XP_016875956.1
XP_016875957.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053031.1 RefSeqGene

    Range
    4949..287386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015057.5NP_055872.4  E3 ubiquitin-protein ligase MYCBP2

    Status: REVIEWED

    Source sequence(s)
    AC001226, AF075587, AL159154, AL159158, AL359257
    UniProtKB/Swiss-Prot
    O75592
    Related
    ENSP00000444596.2, ENST00000544440.7
    Conserved Domains (9) summary
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam11702
    Location:28803023
    DUF3295; Protein of unknown function (DUF3295)
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cd16463
    Location:44254479
    RING-H2_PHR; RING finger, H2 subclass, found in the PHR protein family
    cl02148
    Location:37483840
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
    cl25836
    Location:27252930
    Retinal; Retinal protein
    cl27659
    Location:23942445
    Filamin; Filamin/ABP280 repeat
    cl27697
    Location:527716
    RCC1; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    77044657..77327098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020465.2XP_016875954.1  E3 ubiquitin-protein ligase MYCBP2 isoform X24

  2. XM_017020463.2XP_016875952.1  E3 ubiquitin-protein ligase MYCBP2 isoform X22

  3. XM_017020459.2XP_016875948.1  E3 ubiquitin-protein ligase MYCBP2 isoform X18

  4. XM_017020458.2XP_016875947.1  E3 ubiquitin-protein ligase MYCBP2 isoform X13

  5. XM_006719784.3XP_006719847.1  E3 ubiquitin-protein ligase MYCBP2 isoform X7

    Conserved Domains (8) summary
    smart00557
    Location:23582409
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:663988
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:922970
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:16911846
    PHR; PHR domain
    pfam08239
    Location:24432503
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:907935
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:45094562
    zf-RING_2; Ring finger domain
    cl02148
    Location:38313923
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  6. XM_017020467.2XP_016875956.1  E3 ubiquitin-protein ligase MYCBP2 isoform X26

  7. XM_017020466.2XP_016875955.1  E3 ubiquitin-protein ligase MYCBP2 isoform X25

  8. XM_017020464.2XP_016875953.1  E3 ubiquitin-protein ligase MYCBP2 isoform X23

  9. XM_017020462.2XP_016875951.1  E3 ubiquitin-protein ligase MYCBP2 isoform X21

  10. XM_006719788.3XP_006719851.1  E3 ubiquitin-protein ligase MYCBP2 isoform X16

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:44374490
    zf-RING_2; Ring finger domain
    cl02148
    Location:37593851
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  11. XM_017020460.2XP_016875949.1  E3 ubiquitin-protein ligase MYCBP2 isoform X19

  12. XM_006719787.3XP_006719850.1  E3 ubiquitin-protein ligase MYCBP2 isoform X15

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:44454498
    zf-RING_2; Ring finger domain
    cl02148
    Location:37673859
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  13. XM_017020461.2XP_016875950.1  E3 ubiquitin-protein ligase MYCBP2 isoform X20

  14. XM_017020455.2XP_016875944.1  E3 ubiquitin-protein ligase MYCBP2 isoform X9

  15. XM_017020457.2XP_016875946.1  E3 ubiquitin-protein ligase MYCBP2 isoform X12

  16. XM_006719782.3XP_006719845.1  E3 ubiquitin-protein ligase MYCBP2 isoform X5

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:45204573
    zf-RING_2; Ring finger domain
    cl02148
    Location:38423934
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  17. XM_017020456.2XP_016875945.1  E3 ubiquitin-protein ligase MYCBP2 isoform X11

  18. XM_017020454.2XP_016875943.1  E3 ubiquitin-protein ligase MYCBP2 isoform X4

  19. XM_006719786.3XP_006719849.1  E3 ubiquitin-protein ligase MYCBP2 isoform X14

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:44514504
    zf-RING_2; Ring finger domain
    cl02148
    Location:37733865
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  20. XM_006719785.3XP_006719848.1  E3 ubiquitin-protein ligase MYCBP2 isoform X10

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:44854538
    zf-RING_2; Ring finger domain
    cl02148
    Location:38073899
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  21. XM_006719789.3XP_006719852.1  E3 ubiquitin-protein ligase MYCBP2 isoform X29

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:45004553
    zf-RING_2; Ring finger domain
    cl02148
    Location:38253917
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  22. XM_005266299.3XP_005266356.1  E3 ubiquitin-protein ligase MYCBP2 isoform X8

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:45034556
    zf-RING_2; Ring finger domain
    cl02148
    Location:38253917
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  23. XM_006719781.3XP_006719844.1  E3 ubiquitin-protein ligase MYCBP2 isoform X3

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:45374590
    zf-RING_2; Ring finger domain
    cl02148
    Location:38593951
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  24. XM_006719783.3XP_006719846.1  E3 ubiquitin-protein ligase MYCBP2 isoform X6

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:45114564
    zf-RING_2; Ring finger domain
    cl02148
    Location:38333925
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  25. XM_006719780.3XP_006719843.1  E3 ubiquitin-protein ligase MYCBP2 isoform X2

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:45424595
    zf-RING_2; Ring finger domain
    cl02148
    Location:38673959
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  26. XM_006719779.3XP_006719842.1  E3 ubiquitin-protein ligase MYCBP2 isoform X1

    Conserved Domains (8) summary
    smart00557
    Location:23942445
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:6631024
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:9581006
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:17271882
    PHR; PHR domain
    pfam08239
    Location:24792539
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:943971
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:45454598
    zf-RING_2; Ring finger domain
    cl02148
    Location:38673959
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  27. XM_011535004.2XP_011533306.1  E3 ubiquitin-protein ligase MYCBP2 isoform X17

    Conserved Domains (8) summary
    smart00557
    Location:22852336
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5184
    Location:554915
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:849897
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:16181773
    PHR; PHR domain
    pfam08239
    Location:23702430
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:834862
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:44364489
    zf-RING_2; Ring finger domain
    cl02148
    Location:37583850
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
  28. XM_017020468.1XP_016875957.1  E3 ubiquitin-protein ligase MYCBP2 isoform X27

  29. XM_011535005.2XP_011533307.1  E3 ubiquitin-protein ligase MYCBP2 isoform X28

    Conserved Domains (7) summary
    smart00557
    Location:14391490
    IG_FLMN; Filamin-type immunoglobulin domains
    pfam00415
    Location:351
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam08005
    Location:772927
    PHR; PHR domain
    pfam08239
    Location:15241584
    SH3_3; Bacterial SH3 domain
    pfam13540
    Location:3967
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    pfam13639
    Location:35903643
    zf-RING_2; Ring finger domain
    cl02148
    Location:29123004
    APC10-like; APC10-like DOC1 domains in E3 ubiquitin ligases that mediate substrate ubiquitination
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