Details for: CCDC125

Gene ID: 202243

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: CCDC125

Ensembl ID: ENSG00000183323

Description: coiled-coil domain containing 125

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • respiratory basal cell CL0002633
    CSI 13.14
    rCSI 13.62%
    PRS 94.82
  • lung secretory cell CL1000272
    CSI 7.57
    rCSI 18.75%
    PRS 94.91
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 5.56
    rCSI 9.33%
    PRS 83.96
  • granulocyte CL0000094
    CSI 5.19
    rCSI 7.93%
    PRS 96.44
  • hematopoietic precursor cell CL0008001
    CSI 5.07
    rCSI 5.22%
    PRS 97.1
  • mesothelial cell CL0000077
    CSI 4.61
    rCSI 18.03%
    PRS 80.83
  • melanocyte CL0000148
    CSI 3.69
    rCSI 2.73%
    PRS 91.28
  • intestine goblet cell CL0019031
    CSI 3.6
    rCSI 3.19%
    PRS 91.68
  • interneuron CL0000099
    CSI 3.59
    rCSI 7.21%
    PRS 89.12
  • ciliated cell CL0000064
    CSI 3.43
    rCSI 5.56%
    PRS 88.25
  • renal beta-intercalated cell CL0002201
    CSI 3.41
    rCSI 8.12%
    PRS 94.05
  • common myeloid progenitor CL0000049
    CSI 3.39
    rCSI 2.74%
    PRS 94.55
  • sst GABAergic cortical interneuron CL4023017
    CSI 3.29
    rCSI 4.24%
    PRS 84.82
  • brush cell of tracheobronchial tree CL0002075
    CSI 3.25
    rCSI 9.66%
    PRS 97.26
  • choroid plexus epithelial cell CL0000706
    CSI 3.23
    rCSI 5.28%
    PRS 88.34
  • intestinal tuft cell CL0019032
    CSI 3.22
    rCSI 4.92%
    PRS 94.59
  • hematopoietic stem cell CL0000037
    CSI 3.14
    rCSI 2.08%
    PRS 94.64
  • secretory cell CL0000151
    CSI 3.11
    rCSI 3.25%
    PRS 92.73
  • BEST4+ enteroycte CL4030026
    CSI 2.97
    rCSI 3.7%
    PRS 93.07
  • ciliated epithelial cell CL0000067
    CSI 2.95
    rCSI 2.6%
    PRS 86.54
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.89
    rCSI 3.6%
    PRS 81.76
  • Kupffer cell CL0000091
    CSI 2.87
    rCSI 6.57%
    PRS 94.53
  • stem cell CL0000034
    CSI 2.84
    rCSI 2.74%
    PRS 90.84
  • retinal bipolar neuron CL0000748
    CSI 2.74
    rCSI 5.13%
    PRS 87.14
  • goblet cell CL0000160
    CSI 2.71
    rCSI 2.56%
    PRS 91.66
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 2.62
    rCSI 6.84%
    PRS 95.06
  • epithelial cell of proximal tubule CL0002306
    CSI 2.59
    rCSI 6.32%
    PRS 88.64
  • adipocyte CL0000136
    CSI 2.54
    rCSI 3.27%
    PRS 86.92
  • mucus secreting cell CL0000319
    CSI 2.48
    rCSI 3.95%
    PRS 96.68
  • lung ciliated cell CL1000271
    CSI 2.44
    rCSI 2.83%
    PRS 89.33
  • multi-ciliated epithelial cell CL0005012
    CSI 2.38
    rCSI 2.37%
    PRS 88.81
  • placental villous trophoblast CL2000060
    CSI 2.3
    rCSI 3.55%
    PRS 92.02
  • ependymal cell CL0000065
    CSI 2.27
    rCSI 4.6%
    PRS 79.03
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.25
    rCSI 2.68%
    PRS 83.88
  • extravillous trophoblast CL0008036
    CSI 2.2
    rCSI 2.72%
    PRS 92.34
  • centrilobular region hepatocyte CL0019029
    CSI 2.16
    rCSI 5.65%
    PRS 89.89
  • retinal pigment epithelial cell CL0002586
    CSI 2.16
    rCSI 4.29%
    PRS 90.92
  • colon epithelial cell CL0011108
    CSI 2.09
    rCSI 2.19%
    PRS 91.74
  • small intestine goblet cell CL1000495
    CSI 2.07
    rCSI 4.53%
    PRS 95.06
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 1.99
    rCSI 1.8%
    PRS 92.77
  • hepatocyte CL0000182
    CSI 1.99
    rCSI 3.56%
    PRS 92.08
  • hematopoietic multipotent progenitor cell CL0000837
    CSI 1.89
    rCSI 4.56%
    PRS 97.87
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.63
    rCSI 4.21%
    PRS 91.89
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.62
    rCSI 5.83%
    PRS 82.04
  • regular ventricular cardiac myocyte CL0002131
    CSI 1.62
    rCSI 10.11%
    PRS 88.46
  • pulmonary alveolar type 1 cell CL0002062
    CSI 1.61
    rCSI 9.29%
    PRS 91.55
  • cardiac muscle cell CL0000746
    CSI 1.56
    rCSI 2.25%
    PRS 87.01
  • neutrophil CL0000775
    CSI 1.5
    rCSI 8.38%
    PRS 91.33
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.48
    rCSI 3.59%
    PRS 81.75
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.45
    rCSI 3.24%
    PRS 84.15
  • kidney connecting tubule epithelial cell CL1000768
    CSI 1.29
    rCSI 3.28%
    PRS 89.55
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.25
    rCSI 3.92%
    PRS 84.87
  • parietal epithelial cell CL1000452
    CSI 1.24
    rCSI 3.32%
    PRS 89.96
  • retinal ganglion cell CL0000740
    CSI 1.04
    rCSI 2.29%
    PRS 85.43
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 0.93
    rCSI 2.13%
    PRS 87.52
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.86
    rCSI 3.25%
    PRS 84.04
  • central nervous system neuron CL2000029
    CSI 0.69
    rCSI 5.04%
    PRS 87.6
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.66
    rCSI 3.87%
    PRS 84.2
  • direct pathway medium spiny neuron CL4023026
    CSI 0.55
    rCSI 13.14%
    PRS 81.69
  • medium spiny neuron CL1001474
    CSI 0.41
    rCSI 3.52%
    PRS 87.43

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.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • 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 Coiled-coil domain containing 125 ([CCDC125](/details-gene/202243)) is a protein-coding gene located on chromosome 5q13.2. Functionally, it is implicated in the regulation of cellular motility and signal transduction. Its primary known molecular roles involve protein binding and the activation of GTPase activity, specifically through the negative regulation of Rho protein signaling. **Overall**, expression data highlights [CCDC125](/details-gene/202243) as a particularly significant gene in [respiratory basal cell](/details-cell/CL0002633)s, suggesting a key function in epithelial tissue dynamics within the respiratory system. ## Cellular Roles and Expression Landscape The expression profile of [CCDC125](/details-gene/202243) indicates a broad but distinct role across several major cell lineages, with a notable prominence in epithelial, neuronal, and hematopoietic cells. **Overall**, the gene's most significant expression is observed in epithelial cell types, particularly those of the respiratory tract. It is the top marker for [respiratory basal cell](/details-cell/CL0002633) (CSI: 13.14) and is also highly significant in [lung secretory cell](/details-cell/CL1000272) (CSI: 7.57) and [ciliated cell](/details-cell/CL0000064) (CSI: 3.43). This strong signature extends to other secretory and barrier epithelia, including [mesothelial cell](/details-cell/CL0000077) (CSI: 4.61), [intestine goblet cell](/details-cell/CL0019031) (CSI: 3.60), and [choroid plexus epithelial cell](/details-cell/CL0000706) (CSI: 3.23). This pattern suggests a fundamental role for [CCDC125](/details-gene/202243) in maintaining the integrity and function of epithelial tissues. A secondary but significant expression signature is found within the nervous system, specifically in inhibitory interneurons such as the [lamp5 GABAergic cortical interneuron](/details-cell/CL4023011) (CSI: 5.56) and [sst GABAergic cortical interneuron](/details-cell/CL4023017) (CSI: 3.29). This suggests a potential role in neuronal development, migration, or synaptic organization. Furthermore, [CCDC125](/details-gene/202243) shows relevance in the hematopoietic system, with notable significance in [granulocyte](/details-cell/CL0000094)s (CSI: 5.19) as well as in progenitor populations like [hematopoietic precursor cell](/details-cell/CL0008001) (CSI: 5.07) and [common myeloid progenitor](/details-cell/CL0000049) (CSI: 3.39), hinting at a role in immune cell development or function. ## Pathways and Molecular Function Functional annotations indicate that [CCDC125](/details-gene/202243) is a cytoplasmic protein primarily involved in regulating intracellular signaling and cell structure. Its molecular function is centered on [protein binding](/details-go/GO:0005515), including [identical protein binding](/details-go/GO:0042802), which is consistent with its coiled-coil domain structure known to facilitate protein-protein interactions. The key biological processes associated with [CCDC125](/details-gene/202243) are related to the regulation of the cytoskeleton and cell movement. It is annotated for the [activation of gtpase activity](/details-go/GO:0090630) and, more specifically, the [negative regulation of rho protein signal transduction](/details-go/GO:0035024) and [negative regulation of cell motility](/details-go/GO:2000146). This function has been experimentally supported, demonstrating its role in controlling cell motility through the deregulation of RhoGTPases ([Link](https://doi.org/10.3892/ijmm_00000271)). This regulatory role is highly consistent with its prominent expression in [respiratory basal cell](/details-cell/CL0002633)s, which are progenitor cells that must carefully balance quiescence, proliferation, and migration during tissue maintenance and repair. ## Research Directions The established role of [CCDC125](/details-gene/202243) in negatively regulating cell motility, combined with its specific expression pattern, opens several avenues for future investigation. **Proposed Testable Hypotheses:** 1. Given its exceptionally high significance in [respiratory basal cell](/details-cell/CL0002633)s, [CCDC125](/details-gene/202243) may function as a critical homeostatic brake, preventing aberrant migration and proliferation of these lung progenitor cells. Its downregulation or loss could contribute to hyperproliferative lung diseases or facilitate the early stages of lung cancer metastasis. 2. The expression of [CCDC125](/details-gene/202243) in hematopoietic progenitors like the [common myeloid progenitor](/details-cell/CL0000049) suggests it may regulate the trafficking and homing of these cells to specific bone marrow niches, with its dysregulation potentially impacting myelopoiesis. 3. In the context of [interneuron](/details-cell/CL0000099)s, [CCDC125](/details-gene/202243) may be involved in controlling neuronal migration during cortical development or modulating synaptic plasticity in the mature brain by regulating cytoskeletal dynamics. **Suggested Experimental Approach:** To test the hypothesis that [CCDC125](/details-gene/202243) is a homeostatic regulator in the lung epithelium, a conditional knockout mouse model could be developed to specifically delete the gene in basal cells (e.g., using a KRT5-CreERT2 driver). Following deletion, the impact on basal cell behavior could be assessed using a lung injury model (e.g., naphthalene or bleomycin administration). Endpoints would include quantifying basal cell proliferation (Ki-67 staining), migration (in ex vivo organoid wound-healing assays), and differentiation, thereby clarifying its role in epithelial repair and regeneration. **Therapeutic Potential:** As a negative regulator of cell motility, [CCDC125](/details-gene/202243) functions as a putative tumor suppressor. Its loss of function could promote cancer cell invasion and metastasis, particularly in lung cancer, where it is most highly expressed. Therefore, it is unlikely to be a target for inhibition. Instead, its expression level could serve as a prognostic biomarker. Therapeutic strategies might focus on restoring its function or reactivating its downstream signaling pathway in tumors where it is silenced, potentially representing a novel approach for anti-metastatic therapy.

Genular Protein ID: 1945070461

Symbol: CC125_HUMAN

Name: Coiled-coil domain-containing protein 125

UniProtKB Accession Codes:

Q86Z20 Q86Z19

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 6 ExpressionAtlas 1 GO 5 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 6 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 19787194

Title: Role of Kenae/CCDC125 in cell motility through the deregulation of RhoGTPase.

PubMed ID: 19787194

DOI: 10.3892/ijmm_00000271

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

Sequence Information:

  • Length: 511
  • Mass: 58629
  • Checksum: B6174A2DDA1CE2DA
  • Sequence:
    • MSKVARSSSE SDVQLWETEE DDMTEGDLGY GLGRKPGGIY EIEFSHRSRK RSDGKNFSPP 
PFPRKGEERN EASFQYSKHK SQQDTFPQVS RISNYRRQSS TVDSNSELSN EELRQCLNET 
LEEVEMLKTE LEASQRQLRG KEEALKILQS MAILGKATSH TQAVLQKTME QNRSLEKEIN 
ALQWEIEFDH NRFKNIEESW IQKYDRLNCE NAVLKENLKV KTEEIKMLKS DNAVLNQRYL 
EALAMLDIKQ QKMAQENMCC DKSGFAEASG LELAVLGACL CHGPGGNPCS CARMAASTRK 
LLLQLKQELE ILQKSKEEAY VMADAFRIAF EQQLMRKNDQ ALQLTQMDKM HKKATKWMNW 
KHLKEDGFPS PRSKKTFGQR LLGMLPSENS SKRMEDQDSP QEVLKMLIDL LNDKEEALAH 
QRKVSYMLAR ALEDKDTASN ENKEKNPIKE NFPFNNPWRK TSEFSVLGDP IHSSVCILNS 
VGCICSIQHS QIDPNYRTLK RSHSLPSSII F

Genular Protein ID: 70768170

Symbol: Q2HJ12_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q2HJ12

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 3 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 RefSeq 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 105
  • Mass: 11637
  • Checksum: CEFE7CB1AC394104
  • Sequence:
    • MLDIKQQKMA QENMCCDKSG FAEASGLELA VLGACLCHGP GGNPCSCARM AASTRKLLLQ 
LKQEDFHHQG VRRPSGRDCW VCSLQKTVLR GWKTRTVLKR SLRCS

Genular Protein ID: 1419245089

Symbol: B4DSR1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DSR1

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 3 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 RefSeq 2 SAM 1

Sequence Information:

  • Length: 386
  • Mass: 44176
  • Checksum: 8D061B9C182B6B9F
  • Sequence:
    • MLKTELEASQ RQLRGKEEAL KILQSMAILG KATSHTQAVL QKTMEQNRSL EKEINALQWE 
IEFDHNRFKN IEESWIQKYD RLNCENAVLK ENLKVKTEEI KMLKSDNAVL NQRYLEALAM 
LDIKQQKMAQ ENMCCDKSGF AEASGLELAV LGACLCHGPG GNPCSCARMA ASTRKLLLQL 
KQGLEILQKS KEEAYVMADA FRIAFEQQLM RKNDQALQLT QMDKMHKKAT KWMNWKHLKE 
DGFPSPRSKK TFGQRLLGML PSENSSKRME DQDSPQEVLK MLIDLLNDKE EALAHQRKVS 
YMLARALEDK DTASNENKEK NPIKENFPFN NPWRKTSEFS VLGDPIHSSV CILNSVGCIC 
SIQHSQIDPN YRTLKRSHSL PSSIIF