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TMEM107
transmembrane protein 107
TMEM107 is located on the short (p) arm of chromosome 17, at band 17p13.1. Arm ratio per GRCh38 - banding schematic.
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Overview
TMEM107 (transmembrane protein 107) is located on chromosome 17 and provides instructions for making a protein essential to primary cilia. Primary cilia are microscopic, antenna-like projections found on the surface of most human cells. They detect signals from the surrounding environment and coordinate cellular responses during development and tissue maintenance.
The TMEM107 protein localises to a specialised region of the cilium called the transition zone, which acts as a gatekeeper controlling what enters and exits the ciliary compartment. When TMEM107 function is disrupted, cilia may form incorrectly or fail to transmit signals properly, leading to a spectrum of developmental abnormalities collectively termed ciliopathies.
What the gene does
The TMEM107 protein plays a structural role at the ciliary transition zone, a cylindrical region at the base of the cilium that regulates protein trafficking into and out of the ciliary membrane. This gatekeeper function ensures that only appropriate signalling molecules and structural components enter the cilium, maintaining its distinct composition and enabling proper signal transduction.
Cilia are critical for several developmental signalling pathways, particularly the Sonic hedgehog (Shh) pathway, which guides tissue patterning in the developing brain, limbs and internal organs. TMEM107 contributes to the assembly and stability of transition zone protein complexes, allowing cilia to respond correctly to extracellular cues. Loss of TMEM107 function disrupts these processes, resulting in abnormal organ development and progressive tissue dysfunction in affected individuals.
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Chromosome location
TMEM107 is located on the short arm of chromosome 17 at position 13.1 (17p13.1). The gene spans a relatively small genomic region and encodes a compact transcript. Precise exon-intron structure details are available in genome reference databases.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. The TMEM107 protein is 140 amino acids in length and belongs to the transmembrane protein family. Predicted topology suggests multiple membrane-spanning segments that anchor the protein within the ciliary transition zone membrane, though specific functional domains have not been mapped.
Key variants
Pathogenic variants in TMEM107 follow an autosomal recessive inheritance pattern, meaning that two altered copies (one inherited from each parent) are typically required for a ciliopathy phenotype to manifest. Carriers with a single pathogenic variant generally remain unaffected. Loss-of-function variants that severely reduce or eliminate protein expression are most commonly reported in individuals with ciliopathy features.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Biallelic pathogenic variants in TMEM107 are linked to autosomal recessive ciliopathies affecting multiple organ systems. These conditions share features such as structural brain abnormalities, kidney cysts, retinal degeneration and skeletal anomalies, though the severity and combination of features can vary. The clinical presentation reflects the broad role of primary cilia in coordinating development and homeostasis across diverse tissues. Some affected individuals present with recognisable ciliopathy syndromes detected during foetal anomaly scans or in early childhood, whilst others may develop progressive symptoms later in life.
No disease links recorded for this gene in our reference set.
Inheritance pattern
Conditions caused by pathogenic TMEM107 variants typically follow autosomal recessive or autosomal dominant inheritance.
Carrier frequency by population How common is heterozygous TMEM107 carrier status across ancestry groups?UK clinical status
TMEM107 is included on several NHS Genomic Medicine Service panels with green classification, reflecting evidence supporting its role in inherited ciliopathies. These panels include Fetal anomalies (version R21), Neurological ciliopathies, Ophthalmological ciliopathies, Rare multisystem ciliopathy disorders, and Renal ciliopathies. Green classification indicates that TMEM107 is considered an established gene for these conditions within NHS diagnostic pathways, and variants may be reported in relevant clinical testing contexts.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What are ciliopathies?
Ciliopathies are a group of genetic conditions caused by defects in primary cilia, microscopic structures that act as cellular antennae. Because cilia are found throughout the body, ciliopathies often affect multiple organ systems including the kidneys, eyes, brain and skeleton.
How is TMEM107-related ciliopathy inherited?
TMEM107-related ciliopathy follows an autosomal recessive pattern. An affected individual typically inherits one pathogenic variant from each parent. Parents who each carry one variant are usually healthy and have a 25% chance with each pregnancy of having an affected child.
Can TMEM107 variants be detected through carrier screening?
Yes, carrier screening panels that include autosomal recessive conditions may test for TMEM107 pathogenic variants. Identifying carrier status before or during pregnancy allows couples to understand their reproductive risks and explore options such as genetic counselling and prenatal testing.