DLX2
Homeobox protein DLX-2
Also known as: DLX2_HUMAN, TES-1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q07687
- Gene
- DLX2
- Ensembl
- ENSG00000115844
- Chromosome
- 2
- Canonical length
- 328 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nuclear speckles
OverviewNCBI Gene
Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
328 residues, UniProt reviewed canonical sequence.
>Q07687|DLX2
1 MTGVFDSLVA DMHSTQIAAS STYHQHQQPP SGGGAGPGGN SSSSSSLHKP QESPTLPVST
61 ATDSSYYTNQ QHPAGGGGGG GSPYAHMGSY QYQASGLNNV PYSAKSSYDL GYTAAYTSYA
121 PYGTSSSPAN NEPEKEDLEP EIRIVNGKPK KVRKPRTIYS SFQLAALQRR FQKTQYLALP
181 ERAELAASLG LTQTQVKIWF QNRRSKFKKM WKSGEIPSEQ HPGASASPPC ASPPVSAPAS
241 WDFGVPQRMA GGGGPGSGGS GAGSSGSSPS SAASAFLGNY PWYHQTSGSA SHLQATAPLL
301 HPTQTPQPHH HHHHHGGGGA PVSAGTIFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DLX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 2.9 nTPM
Expression across tissuesHPA
Tissue
- hypothalamus: 2.9 nTPM
- cerebral cortex: 1.9 nTPM
- amygdala: 1.3 nTPM
- basal ganglia: 1.1 nTPM
- skin: 0.8 nTPM
- testis: 0.7 nTPM
Single-cell type
- tuft cells: 12 nCPM
- adrenal medulla cells: 11 nCPM
- schwann cells: 9.5 nCPM
- early spermatids: 7.1 nCPM
- other brain neurons: 5.6 nCPM
- brain inhibitory neurons: 4.7 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 8.2 nTPM
- basal ganglia: 4.3 nTPM
- cerebral cortex: 3.3 nTPM
- amygdala: 3.1 nTPM
- white matter: 1.8 nTPM
- thalamus: 1.4 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.25
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 0.95
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- branching morphogenesis of a nerve
- cartilage development
- cell differentiation
- cerebral cortex GABAergic interneuron fate commitment
- embryonic cranial skeleton morphogenesis
- embryonic skeletal system development
- forebrain neuron fate commitment
- hippocampus development
- negative regulation of Notch signaling pathway
- negative regulation of oligodendrocyte differentiation
- negative regulation of photoreceptor cell differentiation
- negative regulation of transcription by RNA polymerase II
- neuroblast differentiation
- Notch signaling pathway
- odontogenesis of dentin-containing tooth
- olfactory bulb development
- oligodendrocyte differentiation
- positive regulation of amacrine cell differentiation
- positive regulation of cell differentiation
- positive regulation of transcription by RNA polymerase II
- proximal/distal pattern formation
- regulation of transcription by RNA polymerase II
- subpallium development
Molecular functions
- chromatin binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- single-stranded RNA binding
- transcription cis-regulatory region binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DLX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DLX2 as an antibody target. Whether an autoantibody or antibody against DLX2 could matter depends on whether native DLX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DLX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DLX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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