Details for: IQCN

Gene ID: 80726

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: IQCN

Ensembl ID: ENSG00000130518

Description: IQ motif containing N

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • epithelial cell of lower respiratory tract CL0002632
    CSI 5.43
    rCSI 4.21%
    PRS 99.08
  • melanocyte CL0000148
    CSI 4.31
    rCSI 3.19%
    PRS 97.16
  • alveolar type 1 fibroblast cell CL4028004
    CSI 3.86
    rCSI 4.23%
    PRS 98.84
  • intestine goblet cell CL0019031
    CSI 3.17
    rCSI 2.82%
    PRS 97.44
  • lung ciliated cell CL1000271
    CSI 3.11
    rCSI 3.6%
    PRS 96.12
  • bronchus fibroblast of lung CL2000093
    CSI 2.98
    rCSI 2.43%
    PRS 98.34
  • mucous neck cell CL0000651
    CSI 2.9
    rCSI 4.18%
    PRS 98.35
  • mesothelial cell CL0000077
    CSI 2.72
    rCSI 10.63%
    PRS 92.69
  • peripheral nervous system neuron CL2000032
    CSI 2.09
    rCSI 2.84%
    PRS 95.97
  • alveolar adventitial fibroblast CL4028006
    CSI 1.99
    rCSI 3.15%
    PRS 98.9
  • amacrine cell CL0000561
    CSI 1.99
    rCSI 5.76%
    PRS 94.93
  • keratocyte CL0002363
    CSI 1.97
    rCSI 4.73%
    PRS 98.08
  • basophil CL0000767
    CSI 1.64
    rCSI 3.46%
    PRS 98.76
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 1.34
    rCSI 3.05%
    PRS 94.72

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 [IQCN](/details-gene/80726), or IQ motif containing N, is a protein-coding gene located on chromosome 19p13.11. The gene's primary and most well-characterized function is its essential role in male fertility. Seminal research has demonstrated that [IQCN](/details-gene/80726) is critical for the proper assembly of the manchette, a microtubular structure required for shaping the sperm head during [spermatid development](/details-go/GO:0007286) ([Link](https://doi.org/10.15252/emmm.202216501)). **Overall**, expression data reveals a broader landscape, with significant expression in various epithelial and fibroblast populations, particularly in the respiratory system, such as in the [epithelial cell of lower respiratory tract](/details-cell/CL0002632) and [lung ciliated cell](/details-cell/CL1000271). This suggests that [IQCN](/details-gene/80726) may have pleiotropic functions related to cytoskeletal organization in multiple tissues beyond the testes. ## Cellular Roles and Expression Landscape The **Overall** expression profile of [IQCN](/details-gene/80726) highlights its significance in mucosal and barrier tissues. The gene shows its highest significance in the [epithelial cell of lower respiratory tract](/details-cell/CL0002632) (CSI: 5.43), followed by specialized cells such as the [melanocyte](/details-cell/CL0000148) (CSI: 4.31). Its role in respiratory and digestive tracts is further supported by high expression in [intestine goblet cell](/details-cell/CL0019031), [lung ciliated cell](/details-cell/CL1000271), and [mucous neck cell](/details-cell/CL0000651). The gene is also highly significant in structural and support cells within the lung, including [alveolar type 1 fibroblast cell](/details-cell/CL4028004) and [bronchus fibroblast of lung](/details-cell/CL2000093). The notable expression in motile ciliated cells of the lung is particularly interesting, as it may suggest a shared function in organizing microtubule-based structures like cilia and the sperm flagellum, which is consistent with its established role in manchette formation during spermatogenesis. Beyond these tissues, significant expression in [peripheral nervous system neuron](/details-cell/CL2000032) suggests its functions may extend to other cell types requiring complex cytoskeletal regulation. ## Pathways and Molecular Function The functional annotation of [IQCN](/details-gene/80726) is strongly anchored by its critical role in [spermatid development](/details-go/GO:0007286). A key study has shown that the disruption of [IQCN](/details-gene/80726) causes defects in manchette assembly, leading to failed sperm head elongation, fertilization failure, and ultimately, male infertility ([Link](https://doi.org/10.15252/emmm.202216501)). At the molecular level, its function is described as [protein binding](/details-go/GO:0005515), which is characteristic of proteins containing IQ motifs that often mediate interactions with calmodulin and other proteins. This suggests [IQCN](/details-gene/80726) may act as a scaffold or adapter protein in the assembly of larger protein complexes. Gene Ontology annotations also place the protein in the [mitochondrion](/details-go/GO:0005739) and the [nucleus](/details-go/GO:0005634). Its mitochondrial localization could be relevant for supplying energy to motile structures like the sperm flagellum, while a potential nuclear role remains to be elucidated. ## Research Directions The discrepancy between the well-defined role of [IQCN](/details-gene/80726) in spermatogenesis and its broad expression in other tissues, particularly ciliated respiratory cells, provides fertile ground for future investigation. **Testable Hypotheses:** 1. The high expression of [IQCN](/details-gene/80726) in [lung ciliated cell](/details-cell/CL1000271) is indicative of a crucial role in ciliogenesis or ciliary function, analogous to its function in the sperm flagellum. Consequently, mutations in [IQCN](/details-gene/80726) may be an undiscovered genetic cause of primary ciliary dyskinesia (PCD). 2. Given its expression in secretory cells like the [intestine goblet cell](/details-cell/CL0019031), [IQCN](/details-gene/80726) may regulate the cytoskeletal rearrangements necessary for the transport and exocytosis of mucin granules. 3. The annotated mitochondrial localization suggests [IQCN](/details-gene/80726) may function to tether mitochondria to microtubule networks, ensuring proper energy supply for high-energy processes like ciliary beating or neuronal transport. **Key Experimental Approach:** To test the hypothesis that [IQCN](/details-gene/80726) is involved in respiratory ciliary function, one could utilize an air-liquid interface (ALI) culture system with primary human bronchial epithelial cells. Using CRISPR-Cas9 to knock out [IQCN](/details-gene/80726), researchers could then assess the impact on cilia formation, structure, and motility. Ciliary beat frequency could be measured via high-speed video microscopy, while mucociliary clearance could be evaluated with particle transport assays. This would directly probe its functional importance in the respiratory system. **Therapeutic Potential:** As a gene whose loss-of-function directly causes male infertility, [IQCN](/details-gene/80726) is primarily a candidate for genetic diagnostics in couples experiencing infertility. For therapeutic intervention, its essential role in sperm formation makes it a potential target for the development of non-hormonal male contraceptives, where a specific and reversible inhibitor could disrupt spermatogenesis. However, its widespread expression pattern suggests that systemic inhibition could lead to off-target effects, particularly affecting respiratory function. Any therapeutic strategy targeting [IQCN](/details-gene/80726) would require a highly targeted delivery system or a thorough understanding of its pleiotropic roles.

Genular Protein ID: 1790058686

Symbol: IQCN_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9H0B3 B4DYH2 E9PDE0 E9PH54 Q2KHR5 Q8N4G8 Q96M14 Q9C0I0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 3 ExpressionAtlas 1 GO 3 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 RefSeq 4 SMART 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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

PubMed ID: 11214970

Title: Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 11214970

DOI: 10.1093/dnares/7.6.347

PubMed ID: 36321563

Title: IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect.

PubMed ID: 36321563

DOI: 10.15252/emmm.202216501

Sequence Information:

  • Length: 1180
  • Mass: 127693
  • Checksum: A81A2824C2794AC3
  • Sequence:
    • MTLQGRADLS GNQGNAAGRL ATVHEPVVTQ WAVHPPAPAH PSLLDKMEKA PPQPQHEGLK 
SKEHLPQQPA EGKTASRRVP RLRAVVESQA FKNILVDEMD MMHARAATLI QANWRGYWLR 
QKLISQMMAA KAIQEAWRRF NKRHILHSSK SLVKKTRAEE GDIPYHAPQQ VRFQHPEENR 
LLSPPIMVNK ETQFPSCDNL VLCRPQSSPL LQPPAAQGTP EPCVQGPHAA RVRGLAFLPH 
QTVTIRFPCP VSLDAKCQPC LLTRTIRSTC LVHIEGDSVK TKRVSARTNK ARAPETPLSR 
RYDQAVTRPS RAQTQGPVKA ETPKAPFQIC PGPMITKTLL QTYPVVSVTL PQTYPASTMT 
TTPPKTSPVP KVTIIKTPAQ MYPGPTVTKT APHTCPMPTM TKIQVHPTAS RTGTPRQTCP 
ATITAKNRPQ VSLLASIMKS LPQVCPGPAM AKTPPQMHPV TTPAKNPLQT CLSATMSKTS 
SQRSPVGVTK PSPQTRLPAM ITKTPAQLRS VATILKTLCL ASPTVANVKA PPQVAVAAGT 
PNTSGSIHEN PPKAKATVNV KQAAKVVKAS SPSYLAEGKI RCLAQPHPGT GVPRAAAELP 
LEAEKIKTGT QKQAKTDMAF KTSVAVEMAG APSWTKVAEE GDKPPHVYVP VDMAVTLPRG 
QLAAPLTNAS SQRHPPCLSQ RPLAAPLTKA SSQGHLPTEL TKTPSLAHLD TCLSKMHSQT 
HLATGAVKVQ SQAPLATCLT KTQSRGQPIT DITTCLIPAH QAADLSSNTH SQVLLTGSKV 
SNHACQRLGG LSAPPWAKPE DRQTQPQPHG HVPGKTTQGG PCPAACEVQG MLVPPMAPTG 
HSTCNVESWG DNGATRAQPS MPGQAVPCQE DTGPADAGVV GGQSWNRAWE PARGAASWDT 
WRNKAVVPPR RSGEPMVSMQ AAEEIRILAV ITIQAGVRGY LARRRIRLWH RGAMVIQATW 
RGYRVRRNLA HLCRATTTIQ SAWRGYSTRR DQARHWQMLH PVTWVELGSR AGVMSDRSWF 
QDGRARTVSD HRCFQSCQAH ACSVCHSLSS RIGSPPSVVM LVGSSPRTCH TCGRTQPTRV 
VQGMGQGTEG PGAVSWASAY QLAALSPRQP HRQDKAATAI QSAWRGFKIR QQMRQQQMAA 
KIVQATWRGH HTRSCLKNTE ALLGPADPSA SSRHMHWPGI

Genular Protein ID: 3882238575

Symbol: A0JP07_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0JP07

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 Gene3D 1 IntAct 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 1 SMART 1 SUPFAM 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: 794
  • Mass: 87106
  • Checksum: A2DF8AB142F4AAA6
  • Sequence:
    • MTLQGRADLS GNQGNAAGRL ATVHEPVVTQ WAVHPPAPAH PSLLDKMEKA PPQPQHEGLK 
SKEHLPQQPA EGKTASRRVP RLRAVVESQA FKNILVDEMD MMHARAATLI QANWRGYWLR 
QKLISQMMAA KAIQEAWRRF NKRHILHSSK SLVKKTRAEE GDIPYHAPQQ VRFQHPEENR 
LLSPPIMVNK ETQFPSCDNL VLCRPQSSPL LQPPAAQGTP EPCVQGPHAA RVRGLAFLPH 
QTVTIRFPCP VSLDAKCQPC LLTRTIRSTC LVHIEGDSVK TNASSQRHPP CLSQRPLAAP 
LTKASSQGHL PTELTKTPSL AHLDTCLSKM HSQTHLATGA VKVQSQAPLA TCLTKTQSRE 
QPITDITTCL IPAHQAADLS SNTHSQVLLT GSKVSNHACQ RLGGLSAPPW AKPEDRQTQP 
QPHGHVPGKT TQGGPCPAAC EVQGMLVPPM APTGHSTCNV ESWGDNGATR AQPSMPGQAV 
PCQEDTGPAD AGVVGGQSWN RAWEPARGAA SWDTWRNKAV VPPRRSGEPM VSMQAAEEIR 
ILAVITIQAG VRGYLARRRI RLWHRGAMVI QATWRGYRVR RNLAHLCRAT TTIQSAWRGY 
STRRDQARHW QMLHPVTWVE LGSRAGVMSD RSWFQDGRAR TVSDHRCFQS CQAHACSVCH 
SLSSRIGSPP SVVMLVGSSP RTCHTCGRTQ PTRVVQGMGQ GTEGPGAVSW ASAYQLAALS 
PRQPHRQDKA ATAIQSAWRG FKIRQQMRQQ QMAAKIVQAT WRGHHTRSCL KNTEALLGPA 
DPSASSRHMH WPGI