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DIP2B disco interacting protein 2 homolog B [ Homo sapiens (human) ]

Gene ID: 57609, updated on 28-Nov-2021

Summary

Official Symbol
DIP2Bprovided by HGNC
Official Full Name
disco interacting protein 2 homolog Bprovided by HGNC
Primary source
HGNC:HGNC:29284
See related
Ensembl:ENSG00000066084 MIM:611379
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
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 these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in brain (RPKM 13.6), skin (RPKM 9.4) and 25 other tissues See more
Orthologs
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Genomic context

See DIP2B in Genome Data Viewer
Location:
12q13.12
Exon count:
38
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (50504985..50748657)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50898768..51142440)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 186 member A Neighboring gene ribosomal protein L26 pseudogene 33 Neighboring gene La ribonucleoprotein 4 Neighboring gene small nucleolar RNA, C/D box 133 Neighboring gene fragile site, folic acid type, rare, fra(12)(q13.1) Neighboring gene RNA, U6 small nuclear 769, pseudogene Neighboring gene RNA, U6 small nuclear 238, pseudogene Neighboring gene activating transcription factor 1 Neighboring gene RNA, 7SL, cytoplasmic 519, pseudogene

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

Associated conditions

Description Tests
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
GeneReviews: Not available
Mental retardation, fra12a type
MedGen: C1969893 OMIM: 136630 GeneReviews: Not available
Compare labs
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
GeneReviews: Not available
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1463, MGC104005

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in negative regulation of axon extension ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of peptidyl-lysine acetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perikaryon ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
disco-interacting protein 2 homolog B
Names
DIP2 disco-interacting protein 2 homolog B

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_021196.1 RefSeqGene

    Range
    5001..248673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_173602.3NP_775873.2  disco-interacting protein 2 homolog B

    See identical proteins and their annotated locations for NP_775873.2

    Status: REVIEWED

    Source sequence(s)
    AB040896, AC078818, AK091597, AK097369, BC030156, BU101773, BU102128, BU429622, BX537905
    Consensus CDS
    CCDS31799.1
    UniProtKB/Swiss-Prot
    Q9P265
    UniProtKB/TrEMBL
    Q7Z3H2, Q96IB4
    Related
    ENSP00000301180.5, ENST00000301180.10
    Conserved Domains (4) summary
    COG0318
    Location:336912
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
    pfam00501
    Location:9951470
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:14131
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:360924
    AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    50504985..50748657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_020849.2: Suppressed sequence

    Description
    NM_020849.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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