Details for: TMEM216

Gene ID: 51259

Symbol: TMEM216

Ensembl ID: ENSG00000187049

Description: transmembrane protein 216

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 82.8698
    Cell Significance Index: -12.8900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 39.3762
    Cell Significance Index: -9.9900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 27.3919
    Cell Significance Index: -14.0900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.6979
    Cell Significance Index: -13.1900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.3882
    Cell Significance Index: -13.3700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.7101
    Cell Significance Index: -7.2600
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2.3647
    Cell Significance Index: 14.6300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.3192
    Cell Significance Index: 16.9000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1926
    Cell Significance Index: 71.6000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9322
    Cell Significance Index: 101.3900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9232
    Cell Significance Index: 833.5700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.7338
    Cell Significance Index: 15.3600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.6665
    Cell Significance Index: 23.1600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.6588
    Cell Significance Index: 5.2600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.6218
    Cell Significance Index: 6.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.6102
    Cell Significance Index: 16.6100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4996
    Cell Significance Index: 68.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4855
    Cell Significance Index: 56.5800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4756
    Cell Significance Index: 32.8900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.4739
    Cell Significance Index: 12.4600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4370
    Cell Significance Index: 22.7000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3175
    Cell Significance Index: 60.4300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2624
    Cell Significance Index: 47.3100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2592
    Cell Significance Index: 31.8700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2410
    Cell Significance Index: 15.1900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2256
    Cell Significance Index: 10.5200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2138
    Cell Significance Index: 15.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1996
    Cell Significance Index: 109.0000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1955
    Cell Significance Index: 5.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1925
    Cell Significance Index: 24.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1855
    Cell Significance Index: 8.7200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1698
    Cell Significance Index: 20.0300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1672
    Cell Significance Index: 73.9200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1523
    Cell Significance Index: 3.3000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1271
    Cell Significance Index: 25.5000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.0913
    Cell Significance Index: 0.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0800
    Cell Significance Index: 15.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0792
    Cell Significance Index: 7.8300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0708
    Cell Significance Index: 2.0800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0657
    Cell Significance Index: 0.6800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0581
    Cell Significance Index: 20.8500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0562
    Cell Significance Index: 1.6200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0536
    Cell Significance Index: 2.4300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0453
    Cell Significance Index: 1.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0396
    Cell Significance Index: 2.9500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0346
    Cell Significance Index: 4.4700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0301
    Cell Significance Index: 20.7900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0227
    Cell Significance Index: 0.3800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0034
    Cell Significance Index: 0.1200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0015
    Cell Significance Index: 1.1600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0004
    Cell Significance Index: 0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0009
    Cell Significance Index: -1.6100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0012
    Cell Significance Index: -0.2100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0018
    Cell Significance Index: -0.0500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0026
    Cell Significance Index: -0.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0071
    Cell Significance Index: -13.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0073
    Cell Significance Index: -11.2100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0082
    Cell Significance Index: -11.1700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0098
    Cell Significance Index: -7.1600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0122
    Cell Significance Index: -7.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0142
    Cell Significance Index: -10.5300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0184
    Cell Significance Index: -2.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0193
    Cell Significance Index: -10.9000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0211
    Cell Significance Index: -0.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0230
    Cell Significance Index: -2.3500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0248
    Cell Significance Index: -15.4800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0261
    Cell Significance Index: -11.8400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0279
    Cell Significance Index: -0.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0313
    Cell Significance Index: -9.0200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0369
    Cell Significance Index: -0.3100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0380
    Cell Significance Index: -0.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0638
    Cell Significance Index: -7.3100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0651
    Cell Significance Index: -0.7400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0716
    Cell Significance Index: -15.0800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0891
    Cell Significance Index: -6.8400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1000
    Cell Significance Index: -6.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1165
    Cell Significance Index: -6.5400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1269
    Cell Significance Index: -1.7800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1269
    Cell Significance Index: -13.2100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1308
    Cell Significance Index: -0.7900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1520
    Cell Significance Index: -9.3400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1533
    Cell Significance Index: -12.1400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1550
    Cell Significance Index: -0.9200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1605
    Cell Significance Index: -10.7900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1614
    Cell Significance Index: -2.5600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1627
    Cell Significance Index: -3.7600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1770
    Cell Significance Index: -5.0800
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.1917
    Cell Significance Index: -1.2000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1979
    Cell Significance Index: -10.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2224
    Cell Significance Index: -6.5500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2285
    Cell Significance Index: -14.0100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2342
    Cell Significance Index: -10.3600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2369
    Cell Significance Index: -12.3400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2391
    Cell Significance Index: -1.9500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2525
    Cell Significance Index: -6.4900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2708
    Cell Significance Index: -9.9400
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.2712
    Cell Significance Index: -1.8000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2768
    Cell Significance Index: -10.4800
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.2788
    Cell Significance Index: -2.3700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2850
    Cell Significance Index: -6.2400

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:** TMEM216 is a transmembrane protein, consisting of four transmembrane domains, which are crucial for its function in anchoring the basal body to the plasma membrane. The protein is significantly expressed in various cell types, including hematopoietic cells, epithelial cells, and fibroblasts. Notably, TMEM216 is specifically expressed in non-motile cilia, which are essential for maintaining the structural integrity of cilia and facilitating the transport of molecules across the epithelial barrier. **Pathways and Functions:** TMEM216 plays a pivotal role in the assembly and maintenance of cilia, a complex structure composed of microtubules, dynein arms, and the basal body. The protein interacts with various components of the cilium, including the Mks complex, which is essential for the assembly and maintenance of cilia. TMEM216 also regulates the cytoskeleton and cytosol, modulating the dynamics of cilia assembly and disassembly. Furthermore, TMEM216 has been implicated in the regulation of protein binding, which is critical for the proper functioning of cilia. **Clinical Significance:** Dysregulation of TMEM216 has been linked to various immune-related disorders, including primary ciliary dyskinesia (PCD) and immunodeficiency. PCD is a rare genetic disorder characterized by impaired cilia function, leading to recurrent respiratory infections, infertility, and other systemic complications. Immunodeficiency, on the other hand, is a condition where the immune system is compromised, making individuals susceptible to infections. The identification of TMEM216 as a critical component in cilia biogenesis and maintenance highlights its potential as a therapeutic target for the treatment of these disorders. In conclusion, TMEM216 is a novel protein that plays a crucial role in the assembly and maintenance of cilia, a complex structure essential for various cellular functions, including immune response. Further research on TMEM216 is warranted to elucidate its mechanisms of action and to explore its potential as a therapeutic target for immune-related disorders. **Future Directions:** To further explore the role of TMEM216 in immune function, future studies should focus on: 1. Elucidating the molecular mechanisms underlying TMEM216 function in cilia biogenesis and maintenance. 2. Investigating the effects of TMEM216 dysregulation on immune function and disease susceptibility. 3. Developing novel therapeutic strategies targeting TMEM216 for the treatment of immune-related disorders. By advancing our understanding of TMEM216, we can uncover new avenues for the treatment of immune-related disorders and improve our understanding of the complex relationships between cilia, immune function, and human health.

Genular Protein ID: 3004471673

Symbol: TM216_HUMAN

Name: Transmembrane protein 216

UniProtKB Accession Codes:

Q9P0N5 A8MZ23 B7Z8N1

Database IDs:

AGR 1 AlphaFoldDB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 2 ExpressionAtlas 1 GO 8 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 5 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 26595381

Title: TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

PubMed ID: 26595381

DOI: 10.1038/ncb3273

PubMed ID: 20036350

Title: Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

PubMed ID: 20036350

DOI: 10.1016/j.ajhg.2009.12.007

PubMed ID: 20512146

Title: Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

PubMed ID: 20512146

DOI: 10.1038/ng.594

PubMed ID: 22425360

Title: Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PubMed ID: 22425360

DOI: 10.1016/j.ajhg.2012.02.011

PubMed ID: 22282472

Title: Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

PubMed ID: 22282472

DOI: 10.1126/science.1213506

Sequence Information:

  • Length: 145
  • Mass: 16487
  • Checksum: 0F5024FB2B96D6CB
  • Sequence:
    • MLPRGLKMAP RGKRLSSTPL EILFFLNGWY NATYFLLELF IFLYKGVLLP YPTANLVLDV 
VMLLLYLGIE VIRLFFGTKG NLCQRKMPLS ISVALTFPSA MMASYYLLLQ TYVLRLEAIM 
NGILLFFCGS ELLLEVLTLA AFSRI

Genular Protein ID: 726931310

Symbol: J3QT25_HUMAN

Name: N/A

UniProtKB Accession Codes:

J3QT25

Database IDs:

ARBA 7 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 GO 4 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 Proteomes 2 RefSeq 1 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

Sequence Information:

  • Length: 84
  • Mass: 9470
  • Checksum: 7F070BF3C0CDA893
  • Sequence:
    • MLLLYLGIEV IRLFFGTKGN LCQRKMPLSI SVALTFPSAM MASYYLLLQT YVLRLEAIMN 
GILLFFCGSE LLLEVLTLAA FSRI

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.