Details for: UNCX

Gene ID: 340260

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: UNCX

Ensembl ID: ENSG00000164853

Description: UNC homeobox

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • cerebellar granule cell CL0001031
    CSI 4.38
    rCSI 6.44%
    PRS 99.85
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 4.09
    rCSI 5.8%
    PRS 99.81
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 3.3
    rCSI 4.23%
    PRS 99.85
  • midbrain dopaminergic neuron CL2000097
    CSI 2.27
    rCSI 14.56%
    PRS 99.82

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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  • Node Color (Target Cell CSI, relative to current network):
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    • High
    • Medium
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    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [UNCX](/details-gene/340260), or UNC homeobox, is a protein-coding gene located on human chromosome 7p22.3. As a member of the homeobox family, it functions as a DNA-binding transcription factor that regulates gene expression. Its primary roles are implicated in developmental processes, including neuronal differentiation, cartilage formation, and cell proliferation, consistent with its localization to the nucleus and chromatin. Expression data indicates that **Overall**, [UNCX](/details-gene/340260) is a significant marker for specific cell populations within the central nervous system, such as [cerebellar granule cell](/details-cell/CL0001031) and [neuroblast (sensu Vertebrata)](/details-cell/CL0000031), as well as in specialized epithelial cells of the kidney. ## Cellular Roles and Expression Landscape The expression profile of [UNCX](/details-gene/340260) highlights a specialized role in distinct cell lineages, primarily within the nervous and renal systems. **Overall**, the gene shows its most significant expression in neuronal cells. It is a particularly strong marker for [cerebellar granule cell](/details-cell/CL0001031) (CSI: 4.38) and is also highly significant in developing neurons, such as [neuroblast (sensu Vertebrata)](/details-cell/CL0000031) (CSI: 3.30), and in specialized neuronal subtypes like the [midbrain dopaminergic neuron](/details-cell/CL2000097) (CSI: 2.27). This expression pattern strongly suggests a role in the development, specification, and function of these specific neuronal populations. Interestingly, [UNCX](/details-gene/340260) also demonstrates high significance in a non-neuronal context, specifically in the [kidney loop of Henle thin descending limb epithelial cell](/details-cell/CL1001111) (CSI: 4.09). This indicates a potential dual role for the transcription factor in regulating cell identity and function in both the developing brain and the mature kidney. ## Pathways and Molecular Function Functionally, [UNCX](/details-gene/340260) acts as a sequence-specific transcription factor. Its molecular function is annotated as [Dna-binding transcription factor activity, rna polymerase ii-specific](/details-cell/GO:0000981) and [sequence-specific double-stranded dna binding](/details-cell/GO:1990837). Consistent with this role, it is localized to the [nucleus](/details-cell/GO:0005634) and is associated with [chromatin](/details-cell/GO:0000785). The biological processes associated with [UNCX](/details-gene/340260) are predominantly related to organismal development and cell fate specification. Its established role in the [regulation of transcription by rna polymerase ii](/details-cell/GO:0006357) drives several key developmental pathways: * **Neurogenesis:** Its high expression in neuronal cells aligns with its annotated roles in [dorsal spinal cord development](/details-cell/GO:0021516) and [olfactory bulb interneuron differentiation](/details-cell/GO:0021889). * **Skeletal Development:** The gene is implicated in [cartilage condensation](/details-cell/GO:0001502), pointing to a function in the early stages of bone and cartilage formation. * **Hematopoiesis:** [UNCX](/details-gene/340260) is also involved in [common myeloid progenitor cell proliferation](/details-cell/GO:0035726), suggesting a potential transient role during the development of the hematopoietic system. These functions are consistent with the general role of homeobox genes in orchestrating complex developmental programs and cell differentiation ([Link](https://pubmed.ncbi.nlm.nih.gov/12853948/), [Link](https://pubmed.ncbi.nlm.nih.gov/12690205/)). ## Research Directions The specific and somewhat disparate expression pattern of [UNCX](/details-gene/340260) in both the nervous system and kidney, coupled with its diverse developmental annotations, opens several avenues for future research. **Proposed Hypotheses:** 1. Given the high CSI score in [kidney loop of Henle thin descending limb epithelial cell](/details-cell/CL1001111) but a lack of specific GO terms related to renal development, [UNCX](/details-gene/340260) may be critical for maintaining the terminal differentiation state and specialized transport functions of these cells in the adult kidney, rather than their initial development. 2. The annotation for [common myeloid progenitor cell proliferation](/details-cell/GO:0035726) is not reflected in the top expressed mature cell types. This suggests that [UNCX](/details-gene/340260) likely plays a transient but essential role in early hematopoiesis, with its expression being silenced as progenitor cells commit to specific lineages. 3. The dual-expression in neuronal and renal tissues suggests that [UNCX](/details-gene/340260) may regulate a common transcriptional program related to cell polarity or ion transport, which are critical functions in both neurons and specialized kidney epithelia. **Experimental Approach:** To test the hypothesis regarding the role of [UNCX](/details-gene/340260) in kidney epithelial cell maintenance (Hypothesis 1), a powerful approach would be to use a conditional knockout mouse model. Deleting [UNCX](/details-gene/340260) specifically in the adult kidney tubular epithelium would allow for an assessment of its role in homeostasis. The physiological consequences could be measured through analysis of urine concentration ability, while cellular changes could be profiled using single-cell RNA sequencing to observe shifts in the transcriptional identity and health of the loop of Henle cells. **Therapeutic Potential:** As an intracellular DNA-binding transcription factor, [UNCX](/details-gene/340260) represents a challenging target for direct pharmacological inhibition or activation. However, its specific expression pattern and fundamental role in development suggest it could be implicated in congenital disorders of the kidney or nervous system. Therapeutic strategies would more likely focus on modulating the downstream pathways regulated by [UNCX](/details-gene/340260) or, in the context of regenerative medicine, leveraging its function to guide the differentiation of stem cells into specific neuronal or renal cell types for therapeutic purposes.

Genular Protein ID: 1589513234

Symbol: UNC4_HUMAN

Name: Homeobox protein unc-4 homolog

UniProtKB Accession Codes:

A6NJT0 A4D221

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 3 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMART 1 STRING 1 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

Sequence Information:

  • Length: 531
  • Mass: 53690
  • Checksum: F538F74E77D7F32E
  • Sequence:
    • MMDGRLLEHP HAQFGGSLGG VVGFPYPLGH HHVYELAGHQ LQSAAAAASV PFSIDGLLGG 
SCAAAASVVN PTPLLPAACG VGGDGQPFKL SDSGDPDKES PGCKRRRTRT NFTGWQLEEL 
EKAFNESHYP DVFMREALAL RLDLVESRVQ VWFQNRRAKW RKKENTKKGP GRPAHNSHPT 
TCSGEPMDPE EIARKELEKM EKKKRKHEKK LLKSQGRHLH SPGGLSLHSA PSSDSDSGGG 
GLSPEPPEPP PPAAKGPGAH ASGAAGTAPA PPGEPPAPGT CDPAFYPSQR SGAGPQPRPG 
RPADKDAASC GPGAAVAAVE RGAAGLPKAS PFSVESLLSD SPPRRKAASN AAAAAAAGLD 
FAPGLPCAPR TLIGKGHFLL YPITQPLGFL VPQAALKGGA GLEPAPKDAP PAPAVPPAPP 
AQASFGAFSG PGGAPDSAFA RRSPDAVASP GAPAPAPAPF RDLASAAATE GGGGDCADAG 
TAGPAPPPPA PSPRPGPRPP SPAEEPATCG VPEPGAAAGP SPPEGEELDM D