Table 1.
Genes associated with Familial Interstitial Fibrosis
| Gene Symbol (OMIM#)1 ,2 | Name | Protein | Normal Function | Chromosome Position | Variant Type(s) | Inheritance Patterns in FIP |
|---|---|---|---|---|---|---|
| SFTPC (#178620) | Surfactant, Pulmonary-Associated Protein C | SPC | Essential for lung function after birth, prevent alveolar collapse | 8p21.3 | Intronic (splice site), Exonic (missense) | AD with reduced penetrance |
| SFTPA2 (#178642) | Surfactant, Pulmonary-Associated Protein A2 | Isoform of Surfactant Protein A | Host defense of lung | 10q22.3 | Missense | AD |
| TERT (#187270) | Telomerase Reverse Transcriptase | Telomerase | Telomere integrity during cell division | 5p15.33 | Missense, frameshift, intronic (splice-site) | AD with reduced penetrance |
| TERC (#602322) | Telomerase RNA Component | Telomerase | Telomere integrity during cell division | 3q26.2 | Missense | AD with reduced penetrance |
| ELMOD2 (#610196) | Elmo Domain-Containing Protein 2 | Elmo Domain-Containing Protein 2 | Gene expression in all tissues, including lung | 4q31.1 | None detected | unknown |
| MUC5B (#60070) | MUCIN 5, Subtype B | Mucin protein | Major gel-forming mucin in mucus, contributes to normal saliva, lung, and cervical mucus | 11p15.5 | Common promoter SNP rs35705950, G>T | Common variant |
1
Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/omim/
2
National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov/