Human Gene ID2 (uc002qza.3)
  Description: Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2), mRNA.
RefSeq Summary (NM_002166): The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011].
Transcript (Including UTRs)
   Position: hg19 chr2:8,822,113-8,824,583 Size: 2,471 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr2:8,822,296-8,823,029 Size: 734 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:8,822,113-8,824,583)mRNA (may differ from genome)Protein (134 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MalacardsMGIneXtProtOMIMPubMedTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ID2_HUMAN
DESCRIPTION: RecName: Full=DNA-binding protein inhibitor ID-2; AltName: Full=Class B basic helix-loop-helix protein 26; Short=bHLHb26; AltName: Full=Inhibitor of DNA binding 2;
FUNCTION: ID (inhibitor of DNA binding) HLH proteins lack a basic DNA-binding domain but are able to form heterodimers with other HLH proteins, thereby inhibiting DNA binding. ID-2 may be an inhibitor of tissue-specific gene expression.
SUBUNIT: Heterodimer with other HLH proteins. Interacts with GATA4, IFI204 and NKX2-5 (By similarity). Interacts with NR0B2.
INTERACTION: P15923-1:TCF3; NbExp=3; IntAct=EBI-713450, EBI-769645;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus.
TISSUE SPECIFICITY: Highly expressed in early fetal tissues, including those of the central nervous system.
DEVELOPMENTAL STAGE: Found in most early fetal tissues but not in the corresponding mature tissues.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ID2
CDC HuGE Published Literature: ID2
Positive Disease Associations: Survival
Related Studies:
  1. Survival
    Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics. [PubMed 17903295]
    Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.

-  MalaCards Disease Associations
  MalaCards Gene Search: ID2
Diseases sorted by gene-association score: ewing sarcoma (3), diamond-blackfan anemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 248.21 RPKM in Artery - Tibial
Total median expression: 2084.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.40183-0.489 Picture PostScript Text
3' UTR -174.73776-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026052 - DNA-bd_prot-inh
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q02363
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0044325 ion channel binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001656 metanephros development
GO:0001779 natural killer cell differentiation
GO:0001966 thigmotaxis
GO:0002521 leukocyte differentiation
GO:0003149 membranous septum morphogenesis
GO:0003166 bundle of His development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0007507 heart development
GO:0007623 circadian rhythm
GO:0008344 adult locomotory behavior
GO:0009649 entrainment of circadian clock
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0014003 oligodendrocyte development
GO:0019216 regulation of lipid metabolic process
GO:0021772 olfactory bulb development
GO:0032922 circadian regulation of gene expression
GO:0033598 mammary gland epithelial cell proliferation
GO:0042752 regulation of circadian rhythm
GO:0043153 entrainment of circadian clock by photoperiod
GO:0043353 enucleate erythrocyte differentiation
GO:0043392 negative regulation of DNA binding
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045475 locomotor rhythm
GO:0045578 negative regulation of B cell differentiation
GO:0045600 positive regulation of fat cell differentiation
GO:0045648 positive regulation of erythrocyte differentiation
GO:0045651 positive regulation of macrophage differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045668 negative regulation of osteoblast differentiation
GO:0045777 positive regulation of blood pressure
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048468 cell development
GO:0048469 cell maturation
GO:0048511 rhythmic process
GO:0048541 Peyer's patch development
GO:0048557 embryonic digestive tract morphogenesis
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0048663 neuron fate commitment
GO:0048667 cell morphogenesis involved in neuron differentiation
GO:0048711 positive regulation of astrocyte differentiation
GO:0048715 negative regulation of oligodendrocyte differentiation
GO:0060612 adipose tissue development
GO:0060749 mammary gland alveolus development
GO:0061030 epithelial cell differentiation involved in mammary gland alveolus development
GO:0061031 endodermal digestive tract morphogenesis
GO:0071158 positive regulation of cell cycle arrest
GO:0071285 cellular response to lithium ion
GO:0071931 positive regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0090398 cellular senescence
GO:2000045 regulation of G1/S transition of mitotic cell cycle
GO:2000178 negative regulation of neural precursor cell proliferation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  LQ270680 - Sequence 8 from Patent WO2016071350.
JB837394 - Sequence 5 from Patent WO2013106494.
LQ270676 - Sequence 4 from Patent WO2016071350.
AY634687 - Homo sapiens cell growth-inhibiting gene 8 (GIG8) mRNA, complete cds.
AK222682 - Homo sapiens mRNA for inhibitor of DNA binding 2 variant, clone: CBR03716.
M97796 - Human helix-loop-helix protein (Id-2) mRNA, complete cds.
BC030639 - Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein, mRNA (cDNA clone MGC:26389 IMAGE:4820416), complete cds.
AK311988 - Homo sapiens cDNA, FLJ92261, highly similar to Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2), mRNA.
D13891 - Homo sapiens mRNA for Id-2H, complete cds.
KJ891421 - Synthetic construct Homo sapiens clone ccsbBroadEn_00815 ID2 gene, encodes complete protein.
KJ904909 - Synthetic construct Homo sapiens clone ccsbBroadEn_14303 ID2B gene, encodes complete protein.
DQ894013 - Synthetic construct Homo sapiens clone IMAGE:100008473; FLH166548.01L; RZPDo839A0487D inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2) gene, encodes complete protein.
AB463777 - Synthetic construct DNA, clone: pF1KB8870, Homo sapiens ID2 gene for inhibitor of DNA binding 2, dominant negative helix-loop-helix protein, without stop codon, in Flexi system.
DQ890858 - Synthetic construct clone IMAGE:100003488; FLH166552.01X; RZPDo839A0488D inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2) gene, encodes complete protein.
JD262893 - Sequence 243917 from Patent EP1572962.
JD292309 - Sequence 273333 from Patent EP1572962.
JD048399 - Sequence 29423 from Patent EP1572962.
LQ932417 - Sequence 8 from Patent WO2014187881.
LQ932413 - Sequence 4 from Patent WO2014187881.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04350 - TGF-beta signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHB26, ID2_HUMAN, NM_002166, NP_002157, Q02363
UCSC ID: uc002qza.3
RefSeq Accession: NM_002166
Protein: Q02363 (aka ID2_HUMAN)
CCDS: CCDS1659.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002166.4
exon count: 3CDS single in 3' UTR: no RNA size: 1402
ORF size: 405CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1010.00frame shift in genome: no % Coverage: 97.29
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.