LOC109609705 transcription factor 4 repeat instability region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC109609705
Gene description: transcription factor 4 repeat instability region
Gene type: biological region
Feature type(s): misc_feature: repeat_instability_region
repeat_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This biological region is found on the q arm of chromosome 18. Depending on the transcript variant to which it is being compared, this region is located either within an intron, or, near 5' regulatory sequences of the transcription factor 4 gene. This region contains a highly polymorphic (CTG)n trinucleotide repeat that is susceptible to expansions, and can contribute to the risk of development of Fuchs' endothelial corneal dystrophy (FECD), an autosomal dominant disorder with variable penetrance. Alleles with about 10-37 repeat units tend to be stably transmitted, while moderately enlarged alleles of 53-250 repeats and highly enlarged alleles of 800-2100 repeat units are unstable. There is a correlation between repeat size and disease severity, with alleles of greater than 40 repeats sometimes resulting in pathogenicity. RNA nuclear foci containing the expanded CUG transcripts have been observed in individuals with expanded alleles. The muscleblind like splicing regulator 1 gene product is sequestered to these foci, and widespread alteration of splicing patterns were observed in affected tissues, suggesting that this could contribute to disease pathogenesis. [provided by RefSeq, Jan 2017]
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Genomic context

Location:: 18q21.2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (55586154..55586229)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (55789234..55789288)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (53253385..53253460)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

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General gene information

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Other Names

CTG18.1 repeat instability region
TCF4 repeat instability region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.