TMEM107 | ENSG00000179029 | NCBI 84314

Details for: TMEM107

Gene ID: 84314

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: TMEM107

Ensembl ID: ENSG00000179029

Description: transmembrane protein 107

Cell Significance Landscape

Display Count:

Associated with

Ciliary transition zone
(GO:0035869)
Cilium assembly
(GO:0060271)
Craniofacial suture morphogenesis
(GO:0097094)
Detection of nodal flow
(GO:0003127)
Embryonic digit morphogenesis
(GO:0042733)
Membrane
(GO:0016020)
Mks complex
(GO:0036038)
Molecular_function
(GO:0003674)
Neural tube patterning
(GO:0021532)
Non-motile cilium assembly
(GO:1905515)
Protein binding
(GO:0005515)
Protein localization to ciliary transition zone
(GO:1904491)
Regulation of gene expression
(GO:0010468)
Roof of mouth development
(GO:0060021)

Significant Cells

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

ciliated epithelial cell CL0000067

CSI 34.98

rCSI 30.76%

PRS 73.17
lung ciliated cell CL1000271

CSI 10.65

rCSI 12.32%

PRS 76.19
ciliated columnar cell of tracheobronchial tree CL0002145

CSI 7.68

rCSI 17.51%

PRS 76.92
retinal cone cell CL0000573

CSI 7.2

rCSI 11.59%

PRS 74.01
granulocyte monocyte progenitor cell CL0000557

CSI 6.84

rCSI 5.93%

PRS 86.73
intermediate monocyte CL0002393

CSI 6.15

rCSI 9.28%

PRS 88.02
myeloid leukocyte CL0000766

CSI 6.13

rCSI 5.65%

PRS 84.58
multi-ciliated epithelial cell CL0005012

CSI 5.61

rCSI 5.6%

PRS 77.42
deuterosomal cell CL4033044

CSI 4.88

rCSI 16.49%

PRS 79.95
plasmablast CL0000980

CSI 4.76

rCSI 3.75%

PRS 87.49
effector CD8-positive, alpha-beta T cell CL0001050

CSI 4.03

rCSI 3.07%

PRS 94.04
double negative thymocyte CL0002489

CSI 4.03

rCSI 2.8%

PRS 93.2
CD14-positive, CD16-negative classical monocyte CL0002057

CSI 4

rCSI 24.19%

PRS 92.2
plasmacytoid dendritic cell, human CL0001058

CSI 3.34

rCSI 2.33%

PRS 86.63
precursor B cell CL0000817

CSI 3.17

rCSI 2.77%

PRS 89.58
ciliated cell CL0000064

CSI 3.13

rCSI 5.07%

PRS 78.22
ionocyte CL0005006

CSI 3.12

rCSI 3.34%

PRS 84.94
choroid plexus epithelial cell CL0000706

CSI 3.11

rCSI 5.09%

PRS 73.57
interneuron CL0000099

CSI 3.07

rCSI 6.17%

PRS 74.53
epithelial cell of lung CL0000082

CSI 3.07

rCSI 2.54%

PRS 84.4
T follicular helper cell CL0002038

CSI 3.06

rCSI 2.29%

PRS 93.83
CD4-positive helper T cell CL0000492

CSI 3.03

rCSI 2.29%

PRS 93.52
common myeloid progenitor CL0000049

CSI 3

rCSI 2.43%

PRS 85.35
mature T cell CL0002419

CSI 2.97

rCSI 2.31%

PRS 94.33
mature B cell CL0000785

CSI 2.93

rCSI 2.55%

PRS 91.33
vascular associated smooth muscle cell CL0000359

CSI 2.92

rCSI 9.47%

PRS 81.4
basophil CL0000767

CSI 2.86

rCSI 6.05%

PRS 92.28
group 3 innate lymphoid cell CL0001071

CSI 2.79

rCSI 2.1%

PRS 88.54
class switched memory B cell CL0000972

CSI 2.75

rCSI 2.06%

PRS 93.3
double-positive, alpha-beta thymocyte CL0000809

CSI 2.7

rCSI 2.75%

PRS 91.38
pro-B cell CL0000826

CSI 2.66

rCSI 2.2%

PRS 85.49
common lymphoid progenitor CL0000051

CSI 2.66

rCSI 3.55%

PRS 95.05
CD4-positive, alpha-beta cytotoxic T cell CL0000934

CSI 2.63

rCSI 3.61%

PRS 95.55
blood vessel endothelial cell CL0000071

CSI 2.61

rCSI 5.41%

PRS 80.33
neuroblast (sensu Vertebrata) CL0000031

CSI 2.59

rCSI 3.33%

PRS 79.61
megakaryocyte-erythroid progenitor cell CL0000050

CSI 2.59

rCSI 2.34%

PRS 81.85
neural crest cell CL0011012

CSI 2.56

rCSI 2.03%

PRS 73.25
dendritic cell, human CL0001056

CSI 2.54

rCSI 3.9%

PRS 90.39
perivascular cell CL4033054

CSI 2.53

rCSI 3.46%

PRS 87.5
hematopoietic multipotent progenitor cell CL0000837

CSI 2.53

rCSI 6.08%

PRS 93.88
pancreatic A cell CL0000171

CSI 2.48

rCSI 2.6%

PRS 86.34
CD1c-positive myeloid dendritic cell CL0002399

CSI 2.46

rCSI 2.97%

PRS 89.87
glioblast CL0000030

CSI 2.35

rCSI 3.75%

PRS 75.14
IgA plasma cell CL0000987

CSI 2.33

rCSI 2.39%

PRS 89.06
CD14-positive monocyte CL0001054

CSI 2.33

rCSI 2.9%

PRS 90.97
transit amplifying cell of colon CL0009011

CSI 2.3

rCSI 2.7%

PRS 84.79
conventional dendritic cell CL0000990

CSI 2.25

rCSI 1.88%

PRS 81.45
hematopoietic precursor cell CL0008001

CSI 2.18

rCSI 2.25%

PRS 92.72
activated CD4-positive, alpha-beta T cell CL0000896

CSI 2.1

rCSI 1.94%

PRS 94.98
BEST4+ enteroycte CL4030026

CSI 2.06

rCSI 2.57%

PRS 83.93
elicited macrophage CL0000861

CSI 2.06

rCSI 1.89%

PRS 89.99
stem cell CL0000034

CSI 2.05

rCSI 1.98%

PRS 77.54
enteroendocrine cell CL0000164

CSI 2.05

rCSI 2.79%

PRS 82.73
intestine goblet cell CL0019031

CSI 2.01

rCSI 1.79%

PRS 81.03
CD14-low, CD16-positive monocyte CL0002396

CSI 1.96

rCSI 1.51%

PRS 86.31
retinal rod cell CL0000604

CSI 1.94

rCSI 3.43%

PRS 78.7
ependymal cell CL0000065

CSI 1.85

rCSI 3.76%

PRS 62.75
duct epithelial cell CL0000068

CSI 1.85

rCSI 2.71%

PRS 87.73
memory T cell CL0000813

CSI 1.85

rCSI 3.56%

PRS 96.53
club cell CL0000158

CSI 1.81

rCSI 2.66%

PRS 78.19
mononuclear phagocyte CL0000113

CSI 1.81

rCSI 3.99%

PRS 86.53
radial glial cell CL0000681

CSI 1.77

rCSI 2.46%

PRS 81.78
intestinal epithelial cell CL0002563

CSI 1.76

rCSI 1.83%

PRS 80.89
neuroblast (sensu Nematoda and Protostomia) CL0000338

CSI 1.75

rCSI 2.02%

PRS 75.64
forebrain radial glial cell CL0013000

CSI 1.73

rCSI 5.54%

PRS 84.38
CD8-positive, alpha-beta cytotoxic T cell CL0000794

CSI 1.72

rCSI 2.06%

PRS 95.36
retina horizontal cell CL0000745

CSI 1.72

rCSI 2.61%

PRS 80.16
placental villous trophoblast CL2000060

CSI 1.71

rCSI 2.64%

PRS 82.22
intestinal tuft cell CL0019032

CSI 1.67

rCSI 2.55%

PRS 86.53
basal cell CL0000646

CSI 1.65

rCSI 2.21%

PRS 81.39
IgG plasma cell CL0000985

CSI 1.65

rCSI 1.98%

PRS 91.12
promyelocyte CL0000836

CSI 1.55

rCSI 2.24%

PRS 87.91
CD14-positive, CD16-positive monocyte CL0002397

CSI 1.54

rCSI 2.01%

PRS 92.15
peripheral nervous system neuron CL2000032

CSI 1.45

rCSI 1.98%

PRS 75.36
small intestine goblet cell CL1000495

CSI 1.45

rCSI 3.18%

PRS 87.72
caudal ganglionic eminence derived cortical interneuron CL4023064

CSI 1.4

rCSI 2.47%

PRS 65.9
fraction A pre-pro B cell CL0002045

CSI 1.35

rCSI 1.55%

PRS 91.61
promonocyte CL0000559

CSI 1.22

rCSI 2.1%

PRS 88.15
type B pancreatic cell CL0000169

CSI 1.2

rCSI 2.67%

PRS 82.83
Hofbauer cell CL3000001

CSI 1.07

rCSI 2.03%

PRS 89.98
mesenchymal cell CL0008019

CSI 1.07

rCSI 2.71%

PRS 77.14
myeloid lineage restricted progenitor cell CL0000839

CSI 0.93

rCSI 4.78%

PRS 94.7
large pre-B-II cell CL0000957

CSI 0.91

rCSI 2.61%

PRS 87.32
effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062

CSI 0.81

rCSI 4.06%

PRS 93.22
podocyte CL0000653

CSI 0.55

rCSI 2.44%

PRS 84.06
eye photoreceptor cell CL0000287

CSI 0.39

rCSI 4.4%

PRS 89.46
CD34-positive, CD56-positive, CD117-positive common innate lymphoid precursor, human CL0001074

CSI 0.36

rCSI 4.22%

PRS 94.78

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.

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.

Context Genes (max 20):

Interaction Source:

Pathway Categories (for ONTOLOGY source):

Baseline Cell Type:

Baseline Cell Context(s): Comma-separated if multiple.

Target Cell Type:

Target Cell Context(s): 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.

Description
Proteins

## Summary Analyzed for its expression specificity (CSI Z-Score), Transmembrane protein 107 ([TMEM107](/details-gene/84314)) is identified as a broadly expressed gene rather than a specific cell type marker. The data show its presence across diverse cell lineages, including epithelial and immune cells. Its function is strongly linked to the assembly and maintenance of the ciliary transition zone, a critical cellular organelle. Mutations in [TMEM107](/details-gene/84314) are known to cause severe developmental ciliopathies, including Joubert syndrome and Orofaciodigital syndrome, underscoring its essential role in human development ([PubMed: 26595381](https://pubmed.ncbi.nlm.nih.gov/26595381), [PubMed: 26518474](https://pubmed.ncbi.nlm.nih.gov/26518474)). ## Cellular Roles and Expression Landscape The expression profile of [TMEM107](/details-gene/84314), when assessed for specificity, reveals a notable lack of cell-type restriction. In the **Overall** context, the CSI (Z-SCORE) is consistently 0.00 with non-significant p-values (p > 0.2) across all top-expressing cells. This indicates that while [TMEM107](/details-gene/84314) is present in these cells, its expression is not statistically unique or specific enough to distinguish them from other cell types. The gene's highest, albeit non-specific, expression is observed in cell types known to possess cilia. This includes [ciliated epithelial cell](/details-cell/CL0000067), [lung ciliated cell](/details-cell/CL1000271), and [ciliated columnar cell of tracheobronchial tree](/details-cell/CL0002145). This pattern is highly consistent with its established role in ciliary biology. Its presence is also noted in [retinal cone cell](/details-cell/CL0000573), which utilize a modified, non-motile primary cilium for photosignal transduction. Interestingly, [TMEM107](/details-gene/84314) is also expressed in a wide range of hematopoietic cells, which are not typically associated with motile cilia. These include progenitor cells like the [granulocyte monocyte progenitor cell](/details-cell/CL0000557) as well as mature immune cells such as the [CD14-positive, CD16-negative classical monocyte](/details-cell/CL0002057), [intermediate monocyte](/details-cell/CL0002393), and [effector CD8-positive, alpha-beta T cell](/details-cell/CL0001050). This broad expression pattern suggests that [TMEM107](/details-gene/84314) may have non-canonical functions outside of its classic role in ciliary structure, potentially involving primary cilia in immune cell signaling or other membrane-related processes. ## Pathways and Molecular Function The functional annotations for [TMEM107](/details-gene/84314) strongly corroborate its expression in ciliated cells and its role in human disease. Gene Ontology terms highlight its central involvement in '[Cilium assembly](/details-go/GO:0060271)' and specifically '[Non-motile cilium assembly](/details-go/GO:1905515)'. It is a key component of the '[Ciliary transition zone](/details-go/GO:0035869)', a "gatekeeper" structure at the base of the cilium that regulates protein entry and exit. Research has shown that [TMEM107](/details-gene/84314) is critical for localizing other ciliopathy-associated proteins to this specific subdomain ([PubMed: 26595381](https://pubmed.ncbi.nlm.nih.gov/26595381)). Its role extends to critical developmental processes that are often regulated by ciliary signaling, such as '[Neural tube patterning](/details-go/GO:0021532)', '[Embryonic digit morphogenesis](/details-go/GO:0042733)', and '[Craniofacial suture morphogenesis](/details-go/GO:0097094)'. The disruption of these processes due to [TMEM107](/details-gene/84314) mutations is consistent with the clinical manifestations observed in Joubert, Meckel-Gruber, and Orofaciodigital syndromes ([PubMed: 26123494](https://pubmed.ncbi.nlm.nih.gov/26123494), [PubMed: 26518474](https://pubmed.ncbi.nlm.nih.gov/26518474)). The molecular function is annotated broadly as '[Protein binding](/details-go/GO:0005515)', reflecting its role in scaffolding protein complexes at the ciliary transition zone. ## Research Directions The widespread expression of [TMEM107](/details-gene/84314), particularly in immune cells, coupled with its fundamental role in ciliary biology, opens several avenues for future research. The data suggest its function may be more pleiotropic than currently understood. **Testable Hypotheses:** 1. **Hypothesis:** [TMEM107](/details-gene/84314) plays a cilia-dependent role in immune cell function, regulating chemotaxis or cell activation by modulating signaling through the primary cilium, a sensory organelle found on many immune cells. Its expression in [intermediate monocyte](/details-cell/CL0002393) and [effector CD8-positive, alpha-beta T cell](/details-cell/CL0001050) suggests a role beyond developmental contexts. * **Experimental Approach:** Generate a conditional knockout of [TMEM107](/details-gene/84314) in the hematopoietic lineage in mice. Isolate monocytes and T cells and perform transwell migration assays toward chemokines (e.g., CCL2, CXCL12). Assess T cell activation and cytokine production profiles post-stimulation using flow cytometry and ELISA. Use immunofluorescence microscopy to examine primary cilium formation and receptor localization (e.g., chemokine receptors) on these immune cells. 2. **Hypothesis:** In progenitor cells, such as the [granulocyte monocyte progenitor cell](/details-cell/CL0000557), [TMEM107](/details-gene/84314) is essential for lineage commitment by correctly orchestrating cilia-mediated developmental signals like Sonic Hedgehog (Shh) or Wnt. * **Experimental Approach:** Utilize an in vitro model of human hematopoietic stem cell differentiation. Knock down [TMEM107](/details-gene/84314) using shRNA or CRISPRi and assess the differentiation trajectory towards myeloid versus lymphoid lineages via flow cytometry for cell surface markers. Quantify the activity of the Shh pathway by measuring levels of the downstream transcription factor GLI1. 3. **Hypothesis:** The expression of [TMEM107](/details-gene/84314) in [retinal cone cell](/details-cell/CL0000573) is critical for the trafficking of phototransduction proteins through the connecting cilium (a modified transition zone), and its disruption contributes to retinal degeneration seen in some ciliopathies. * **Experimental Approach:** Develop a retinal organoid model from iPSCs carrying patient-derived [TMEM107](/details-gene/84314) mutations. Use super-resolution microscopy and immunohistochemistry to examine the localization of key phototransduction proteins like rhodopsin and transducin within the cone cell outer segment. Perform functional analysis using calcium imaging to measure the cells' response to light stimuli. **Therapeutic Potential:** Given that mutations in [TMEM107](/details-gene/84314) cause severe, multi-systemic developmental disorders, it represents a key diagnostic marker for these ciliopathies. Its fundamental role and broad expression profile suggest that systemic therapies targeting [TMEM107](/details-gene/84314) would likely have significant off-target effects. Therefore, therapeutic strategies should focus on gene therapies with tissue-specific delivery vectors (e.g., AAVs with photoreceptor-specific promoters for retinal manifestations) or small molecules aimed at restoring the function of specific mutant protein variants.

Disclaimer: This in-silico analysis is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

TM107_HUMAN

Genular Protein ID: 1487204863

Symbol: TM107_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6UX40 A0PJV7 Q6NSE3 Q6ZRX9 Q96T82

Database IDs:

Citations:

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 26123494

Title: Identification of a novel MKS locus defined by TMEM107 mutation.

PubMed ID: 26123494

DOI: 10.1093/hmg/ddv242

PubMed ID: 26518474

Title: TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.

PubMed ID: 26518474

DOI: 10.1002/humu.22925

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

Sequence Information:

Length: 140
Mass: 15503
Checksum: B2ED164C9F379EDD
Sequence:

MGRVSGLVPS RFLTLLAHLV VVITLFWSRD SNIQACLPLT FTPEEYDKQD IQLVAALSVT 
LGLFAVELAG FLSGVSMFNS TQSLISIGAH CSASVALSFF IFERWECTTY WYIFVFCSAL 
PAVTEMALFV TVFGLKKKPF

Details for: TMEM107

Cell Significance Landscape

Associated with

Significant Cells

Network Configuration

Legend:

Other Information

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. PubMed ID: 12975309

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. PubMed ID: 16625196

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Identification of a novel MKS locus defined by TMEM107 mutation. PubMed ID: 26123494

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. PubMed ID: 26518474