Gene: BCL2L2-PABPN1

Alternate names for this Gene: -

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: BCL2L2-PABPN1 readthrough

Type of Gene: protein-coding

Gene: PABPN1

Alternate names for this Gene: OPMD|PAB2|PABII|PABP-2|PABP2

Gene Summary: This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: poly(A) binding protein nuclear 1

Type of Gene: protein-coding

rs45528934 in BCL2L2-PABPN1;PABPN1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.