Table 1 Genomic summary of the TRPM3 and miR-204 genes in humans (TRPM3, MIR204) and mice (Trpm3, Mir204)
From: TRPM3_miR-204: a complex locus for eye development and disease
Gene symbol | Gene ID | Cytogenetic locus | Physical locus | Gene size | Exon count | Transcript variants | Protein isoforms | Gene variants | Disease variant/disease model | Ocular phenotype (other) | Gene/phenotype MIM No. | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Human (GRCh38.p13a) | ||||||||||||
TRPM3 | 80036 | 9q21.12-q21.13 | Chr9: 70529060–71,446,971, complement | 917,911 kb | 30 | 1–23 (RefSeq), X1-X8, X10-X13, X15, X18-X19 (predicted) | a-w (RefSeq), X1–8, X10–13, X15, X18-X19 (predicted) | ~ 244,676 Total (220,391 SNVs, 4221 deletions, 1882 insertions, 974 CNVs) | p.Ile65Met | Cataract ± glaucoma and anterior segment defects | 608961 | 81 |
MIR204 | 406987 | 9q21.12 | Chr9: 70,809,975–70,810,084, complement | 110 bp | 1 (located in intron-9 of TRPM3) | miR-204-5p, miR-204-3p | ~ 180 Total (~ 48 SNVs, ~ 97 CNVs) | n.37 C>T | Retinal dystrophy and iris coloboma ± congenital cataract (RDICC) | 610942/616722 | 83 | |
Mouse (GRCm38.p6 C57BL/6 Jb) | ||||||||||||
Trpm3 | 226025 | 19; 19 B | Chr19: 22137797–22,995,410 | 857,613 kb | 33 | 1–30 (RefSeq) X1-X15, X18-X21 (predicted) | a-z, aa-dd (RefSeq), X1-X15, X18-X21 (predicted) | 13,684 SNVs | Trpm3-null mouse | Attenuated pupillary light response (Noxious heat insensitivity) | 46, 93 | |
Mir204 | 387200 | 19; 19 B | Chr19: 22,750,605 - 22,750,672 | 68 bp | 1 (located in intron-9 of Trpm3) | miR-204-5p, miR-204-3p | 37 SNVs | Pax6-null mouse | Lens development | 165 | ||