Details for: RSPH14

Gene ID: 27156

Symbol: RSPH14

Ensembl ID: ENSG00000100218

Description: radial spoke head 14 homolog

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 9.7761
    Cell Significance Index: -6.5600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8870
    Cell Significance Index: 40.2100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6337
    Cell Significance Index: 13.7300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5904
    Cell Significance Index: 112.3500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5364
    Cell Significance Index: 33.8100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5028
    Cell Significance Index: 49.7400
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.4009
    Cell Significance Index: 3.9700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.3920
    Cell Significance Index: 6.4600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3910
    Cell Significance Index: 353.0800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.2970
    Cell Significance Index: -0.6500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2634
    Cell Significance Index: 8.4400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2473
    Cell Significance Index: 5.4200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2405
    Cell Significance Index: 39.1100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1870
    Cell Significance Index: 37.5100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1739
    Cell Significance Index: 18.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1454
    Cell Significance Index: 6.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1386
    Cell Significance Index: 5.2500
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.1227
    Cell Significance Index: 1.2000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1086
    Cell Significance Index: 21.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0956
    Cell Significance Index: 34.3000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0956
    Cell Significance Index: 1.3100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0945
    Cell Significance Index: 1.6200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0916
    Cell Significance Index: 1.9000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0909
    Cell Significance Index: 62.8800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0836
    Cell Significance Index: 5.1400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0784
    Cell Significance Index: 5.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0783
    Cell Significance Index: 42.7600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0465
    Cell Significance Index: 2.6100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0458
    Cell Significance Index: 1.6100
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.0379
    Cell Significance Index: 0.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0276
    Cell Significance Index: 0.6900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0233
    Cell Significance Index: 2.7100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0225
    Cell Significance Index: 0.6300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0164
    Cell Significance Index: 0.2600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0043
    Cell Significance Index: 0.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0024
    Cell Significance Index: 1.0800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0013
    Cell Significance Index: 2.4200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0010
    Cell Significance Index: 0.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0008
    Cell Significance Index: 1.1600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0005
    Cell Significance Index: 0.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0010
    Cell Significance Index: -1.3600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0018
    Cell Significance Index: -0.2700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0021
    Cell Significance Index: -0.0300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0022
    Cell Significance Index: -0.2800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0023
    Cell Significance Index: -0.4200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0035
    Cell Significance Index: -2.5400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0048
    Cell Significance Index: -3.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0049
    Cell Significance Index: -3.6000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0066
    Cell Significance Index: -3.7200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0082
    Cell Significance Index: -6.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0087
    Cell Significance Index: -5.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0091
    Cell Significance Index: -4.1500
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: -0.0109
    Cell Significance Index: -0.1000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0119
    Cell Significance Index: -0.7300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0148
    Cell Significance Index: -4.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0178
    Cell Significance Index: -2.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0187
    Cell Significance Index: -2.3100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0198
    Cell Significance Index: -1.3300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0208
    Cell Significance Index: -1.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0216
    Cell Significance Index: -3.6900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0234
    Cell Significance Index: -4.9300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0250
    Cell Significance Index: -0.6000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0251
    Cell Significance Index: -2.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0258
    Cell Significance Index: -2.6400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0299
    Cell Significance Index: -0.5000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0348
    Cell Significance Index: -1.4300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0360
    Cell Significance Index: -1.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0390
    Cell Significance Index: -0.8300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0408
    Cell Significance Index: -1.1100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0410
    Cell Significance Index: -2.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0460
    Cell Significance Index: -5.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0464
    Cell Significance Index: -6.0000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0472
    Cell Significance Index: -2.4500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0514
    Cell Significance Index: -5.3500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0528
    Cell Significance Index: -1.2200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0589
    Cell Significance Index: -1.2500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0612
    Cell Significance Index: -1.6100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0653
    Cell Significance Index: -2.0800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0681
    Cell Significance Index: -5.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0688
    Cell Significance Index: -5.2800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0698
    Cell Significance Index: -1.4600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0709
    Cell Significance Index: -2.3200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0809
    Cell Significance Index: -4.2500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0847
    Cell Significance Index: -1.7000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0877
    Cell Significance Index: -6.5400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0900
    Cell Significance Index: -1.7800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0905
    Cell Significance Index: -4.2200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0916
    Cell Significance Index: -1.3800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0931
    Cell Significance Index: -3.2600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0932
    Cell Significance Index: -6.0100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0936
    Cell Significance Index: -2.6700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0981
    Cell Significance Index: -2.1200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0986
    Cell Significance Index: -1.1800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0999
    Cell Significance Index: -1.2800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1054
    Cell Significance Index: -2.7100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1114
    Cell Significance Index: -4.0900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1164
    Cell Significance Index: -2.8200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1176
    Cell Significance Index: -0.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1227
    Cell Significance Index: -5.7700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1239
    Cell Significance Index: -1.3500

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.

Other Information

**Key Characteristics** RSPH14 is a highly conserved gene that encodes a protein belonging to the radial spoke head family. The radial spoke is a critical component of cilia, consisting of nine radial spokes that are anchored to the centriole and extend to the cilium's base. The RSPH14 protein is thought to play a key role in the assembly and maintenance of the radial spoke structure. The gene is characterized by its high expression levels in various cell types, including those involved in the epithelial lining of the tracheobronchial tree, colon, and small intestine. **Pathways and Functions** RSPH14 is involved in several cellular pathways, including: 1. **Motile Cilium Pathway**: The RSPH14 protein is essential for the assembly and maintenance of the radial spoke structure in cilia, which are critical for motility, signaling, and mechanotransduction. 2. **Protein Binding Pathway**: RSPH14 interacts with other proteins, including those involved in the regulation of ciliary function, to modulate cellular signaling and response to environmental stimuli. 3. **Radial Spoke Pathway**: The RSPH14 protein is involved in the formation and maintenance of the radial spoke structure, which is critical for ciliary function and motility. **Clinical Significance** Dysregulation of the RSPH14 gene has been implicated in various human diseases, including: 1. **Primary Ciliary Dyskinesia (PCD)**: PCD is a rare genetic disorder characterized by defective ciliary function, leading to respiratory and reproductive complications. Mutations in the RSPH14 gene have been identified as a major cause of PCD. 2. **Cilia-related disorders**: RSPH14 mutations have also been associated with other cilia-related disorders, including situs inversus and chronic respiratory infections. 3. **Cancer**: Aberrant expression of RSPH14 has been observed in various types of cancer, including colon and lung cancer, suggesting a potential role in tumorigenesis. In conclusion, the RSPH14 gene plays a critical role in maintaining ciliary function and regulating cellular processes in various cell types. Its dysregulation has been implicated in several human diseases, highlighting the importance of further research into the mechanisms underlying RSPH14 function and its role in human health and disease.

Genular Protein ID: 2603122532

Symbol: RSP14_HUMAN

Name: Radial spoke head 14 homolog

UniProtKB Accession Codes:

Q9UHP6

Database IDs:

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

Citations:

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 10607907

Title: Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2.

PubMed ID: 10607907

DOI: 10.1016/s0378-1119(99)00456-4

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

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: 348
  • Mass: 38592
  • Checksum: FAED74B2479179A0
  • Sequence:
    • MAHSQNSLEL PININATQIT TAYGHRALPK LKEELQSEDL QTRQKALMAL CDLMHDPECI 
YKAMNIGCME NLKALLKDSN SMVRIKTTEV LHITASHSVG RYAFLEHDIV LALSFLLNDP 
SPVCRGNLYK AYMQLVQVPR GAQEIISKGL ISSLVWKLQV EVEEEEFQEF ILDTLVLCLQ 
EDATEALGSN VVLVLKQKLL SANQNIRSKA ARALLNVSIS REGKKQVCHF DVIPILVHLL 
KDPVEHVKSN AAGALMFATV ITEGKYAALE AQAIGLLLEL LHSPMTIARL NATKALTMLA 
EAPEGRKALQ THVPTFRAME VETYEKPQVA EALQRAARIA ISVIEFKP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.