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

Gene ID: 23077, updated on 5-May-2024

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; AllianceGenome:HGNC:23386
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
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Genomic context

Location:
13q22.3
Exon count:
83
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (77044657..77327094, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (76268292..76550942, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (77618792..77901229, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5414 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:77566521-77567720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5417 Neighboring gene CLN5 intracellular trafficking protein Neighboring gene F-box and leucine rich repeat protein 3 Neighboring gene MYCBP2 antisense RNA 1 Neighboring gene MYCBP2 antisense RNA 2 Neighboring gene NANOG hESC enhancer GRCh37_chr13:77692083-77692584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7839 Neighboring gene uncharacterized LOC124903184 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:77865534-77865737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5419 Neighboring gene uncharacterized LOC127898562 Neighboring gene uncharacterized LOC107984564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7843 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33339 Neighboring gene Sharpr-MPRA regulatory region 1150 Neighboring gene uncharacterized LOC124903185 Neighboring gene uncharacterized LOC124903186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7845

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

EBI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
EBI GWAS 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.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in branchiomotor neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in central nervous system projection neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in circadian regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic assembly at neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IC
Inferred by Curator
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in membrane HDA PubMed 
located_in microtubule cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

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
protein associated with Myc
NP_055872.4

NCBI Reference Sequences (RefSeq)

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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
    A6NJC6, O75592, Q5JSX8, Q5VZN6, Q6PIB6, Q9UQ11, Q9Y6E4
    UniProtKB/TrEMBL
    A0A804HIR9
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    77044657..77327094 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    76268292..76550942 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)