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BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough [ Homo sapiens (human) ]

Gene ID: 100529063, updated on 8-Mar-2024

Summary

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Official Symbol
BCL2L2-PABPN1provided by HGNC
Official Full Name
BCL2L2-PABPN1 readthroughprovided by HGNC
Primary source
HGNC:HGNC:42959
See related
Ensembl:ENSG00000258643 AllianceGenome:HGNC:42959
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in testis (RPKM 56.2), prostate (RPKM 46.1) and 25 other tissues See more
Orthologs
all
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Genomic context

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See BCL2L2-PABPN1 in Genome Data Viewer
Location:
14q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23306833..23326163)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17507847..17527178)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23776042..23795372)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ring finger protein 212B Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23748940-23749440 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23749441-23749941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8168 Neighboring gene homeobox and leucine zipper encoding Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23762790-23763654 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23764306-23764618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23776901-23777734 Neighboring gene protein phosphatase 1 regulatory subunit 3E Neighboring gene H3 histone pseudogene 37 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23789757-23790407 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23790419-23791230 Neighboring gene BCL2 like 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23791231-23792040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5608 Neighboring gene poly(A) binding protein nuclear 1 Neighboring gene solute carrier family 22 member 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23832478-23832978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23832979-23833479 Neighboring gene embryonal Fyn-associated substrate

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Metabolomics Associated with Genome-Wide Association Study Related to the Basal Metabolic Rate in Overweight/Obese Korean Women. Kim MJ, et al. J Med Food, 2019 May. PMID 30990731
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
  3. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
  4. PTPN14 regulates Roquin2 stability by tyrosine dephosphorylation. Choi J, et al. Cell Cycle, 2018. PMID 30209976, Free PMC Article
  5. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

General protein information

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Preferred Names
BCL2L2-PABPN1 protein

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.

mRNA and Protein(s)

  1. NM_001199864.3 → NP_001186793.2  BCL2L2-PABPN1 protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Related
    ENSP00000451320.1, ENST00000553781.5
    Conserved Domains (2) summary
    cd12550
    Location:200 → 275
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins
    TIGR00865
    Location:11 → 145
    bcl-2; apoptosis regulator

  2. NM_001387340.1 → NP_001374269.1  BCL2L2-PABPN1 protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Conserved Domains (2) summary
    TIGR00865
    Location:11 → 185
    bcl-2; apoptosis regulator
    cd12550
    Location:239 → 314
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

  3. NM_001387341.1 → NP_001374270.1  BCL2L2-PABPN1 protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL049829
    UniProtKB/TrEMBL
    A0A7I2V383
    Related
    ENSP00000503309.1, ENST00000678502.1
    Conserved Domains (2) summary
    TIGR00865
    Location:11 → 144
    bcl-2; apoptosis regulator
    cd12550
    Location:232 → 307
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

  4. NM_001387342.1 → NP_001374271.1  BCL2L2-PABPN1 protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL049829
    UniProtKB/TrEMBL
    A0A7I2V383
    Conserved Domains (2) summary
    TIGR00865
    Location:11 → 144
    bcl-2; apoptosis regulator
    cd12550
    Location:232 → 307
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

  5. NM_001387343.1 → NP_001374272.1  BCL2L2-PABPN1 protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Conserved Domains (2) summary
    TIGR00865
    Location:11 → 144
    bcl-2; apoptosis regulator
    cd12550
    Location:232 → 307
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

  6. NM_001387344.1 → NP_001374273.1  BCL2L2-PABPN1 protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Conserved Domains (2) summary
    TIGR00865
    Location:11 → 144
    bcl-2; apoptosis regulator
    cd12550
    Location:232 → 307
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

  7. NM_001387345.1 → NP_001374274.1  BCL2L2-PABPN1 protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Conserved Domains (2) summary
    TIGR00865
    Location:11 → 145
    bcl-2; apoptosis regulator
    cd12550
    Location:200 → 275
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

  8. NM_001387346.1 → NP_001374275.1  BCL2L2-PABPN1 protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Conserved Domains (2) summary
    TIGR00865
    Location:11 → 145
    bcl-2; apoptosis regulator
    cd12550
    Location:200 → 275
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    23306833..23326163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17507847..17527178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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