This locus represents naturally occurring read-through transcription between the neighboring HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2) and BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provide... See more...

Aliases for HNRNPUL2-BSCL2 Gene

Data sources for HNRNPUL2-BSCL2 Gene:

Subcategory (RNA class) for HNRNPUL2-BSCL2 Gene

lncRNA

Aliases for HNRNPUL2-BSCL2 Gene

External Ids for HNRNPUL2-BSCL2 Gene

Previous GeneCards Identifiers for HNRNPUL2-BSCL2 Gene

  • GC11U901839
  • GC11M062479
  • GC11M062491
  • GC11M062691
  • GC11M062697
  • GC11M062953
  • GC11M062984
  • GC11M063017
  • GC11M063081
  • GC11M062719
  • GC11M062730
  • GC11M062742
  • GC11M062763
  • GC11M062783
  • GC11M062812
  • GC11M062824
  • GC11M062844
  • GC11M063443

Summaries for HNRNPUL2-BSCL2 Gene

Entrez Gene Summary for HNRNPUL2-BSCL2 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2) and BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Mar 2011]

GeneCards Summary for HNRNPUL2-BSCL2 Gene

HNRNPUL2-BSCL2 (HNRNPUL2-BSCL2 Readthrough (NMD Candidate)) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with HNRNPUL2-BSCL2 include Encephalopathy, Progressive, With Or Without Lipodystrophy and Neuronopathy, Distal Hereditary Motor, Type Vc. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and kinase activity. An important paralog of this gene is HNRNPUL2.

Additional gene information for HNRNPUL2-BSCL2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HNRNPUL2-BSCL2 Gene

Genomics for HNRNPUL2-BSCL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HNRNPUL2-BSCL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HNRNPUL2-BSCL2 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for HNRNPUL2-BSCL2 Gene

Latest Assembly
chr11:62,690,261-62,727,384
(GRCh38/hg38)
Size:
37,124 bases
Orientation:
Minus strand

Previous Assembly
chr11:62,457,734-62,494,856
(GRCh37/hg19 by Entrez Gene)
Size:
37,123 bases
Orientation:
Minus strand

chr11:62,457,747-62,494,856
(GRCh37/hg19 by Ensembl)
Size:
37,110 bases
Orientation:
Minus strand

Genomic View for HNRNPUL2-BSCL2 Gene

Genes around HNRNPUL2-BSCL2 on UCSC Golden Path with GeneCards custom track
HNRNPUL2-BSCL2 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
HNRNPUL2-BSCL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HNRNPUL2-BSCL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNRNPUL2-BSCL2 Gene

Proteins for HNRNPUL2-BSCL2 Gene

  • Protein details for HNRNPUL2-BSCL2 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    H3BQZ7-H3BQZ7_HUMAN
    Recommended name:
    HCG2044799
    Protein Accession:
    H3BQZ7

    Protein attributes for HNRNPUL2-BSCL2 Gene

    Size:
    746 amino acids
    Molecular mass:
    84691 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HNRNPUL2-BSCL2 Gene

Post-translational modifications for HNRNPUL2-BSCL2 Gene

No Post-translational modifications

Other Protein References for HNRNPUL2-BSCL2 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for HNRNPUL2-BSCL2 Gene

Domains & Families for HNRNPUL2-BSCL2 Gene

Protein Domains for HNRNPUL2-BSCL2 Gene

genes like me logo Genes that share domains with HNRNPUL2-BSCL2: view

No data available for Gene Families , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HNRNPUL2-BSCL2 Gene

Function for HNRNPUL2-BSCL2 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HNRNPUL2-BSCL2 Gene

Localization for HNRNPUL2-BSCL2 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for HNRNPUL2-BSCL2 Gene

Pathways & Interactions for HNRNPUL2-BSCL2 Gene

PathCards logo

SuperPathways for HNRNPUL2-BSCL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HNRNPUL2-BSCL2 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for HNRNPUL2-BSCL2 Gene

Drugs & Compounds for HNRNPUL2-BSCL2 Gene

No Compound Related Data Available

Transcripts for HNRNPUL2-BSCL2 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for HNRNPUL2-BSCL2 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000075B250_9606 lncRNA 4014 2

RefSeq: NR_037946,

LNCipedia: lnc-HNRNPUL2-BSCL2-1:1,

URS0000D6E4B5_9606 lncRNA 881 2

LncBook: HSALNT0176262,

LNCipedia: lnc-HNRNPUL2-BSCL2-1:5,

URS00009C440B_9606 lncRNA 659 2

LncBook: HSALNT0176270,

NONCODE: NONHSAT160386.1,

URS0001BE38A3_9606 lncRNA 881 1

LncBook: HSALNT0176262,

URS0000D6E239_9606 lncRNA 695 1

LNCipedia: lnc-HNRNPUL2-BSCL2-1:4,

HNRNPUL2-BSCL2 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for HNRNPUL2-BSCL2 Gene

2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPUL2-BSCL2 Gene

No ASD Table

Relevant External Links for HNRNPUL2-BSCL2 Gene

GeneLoc Exon Structure for
HNRNPUL2-BSCL2

Expression for HNRNPUL2-BSCL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HNRNPUL2-BSCL2 Gene

genes like me logo Genes that share expression patterns with HNRNPUL2-BSCL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPUL2-BSCL2 Gene

Orthologs for HNRNPUL2-BSCL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HNRNPUL2-BSCL2 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia -- 31
  • 93 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia HNRNPUL2 31
  • 93 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Hnrnpul2 31
  • 92 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 80 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 75 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 59 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii HNRNPUL2 31
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG30122 31
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y41E3.11 31
  • 8 (a)
OneToMany
Species where no ortholog for HNRNPUL2-BSCL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for HNRNPUL2-BSCL2 Gene

ENSEMBL:
Gene Tree for HNRNPUL2-BSCL2 (if available)
TreeFam:
Gene Tree for HNRNPUL2-BSCL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HNRNPUL2-BSCL2: view image

Paralogs for HNRNPUL2-BSCL2 Gene

Paralogs for HNRNPUL2-BSCL2 Gene

(5) SIMAP similar genes for HNRNPUL2-BSCL2 Gene using alignment to 1 proteins:

  • H3BQZ7_HUMAN
genes like me logo Genes that share paralogs with HNRNPUL2-BSCL2: view

Variants for HNRNPUL2-BSCL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HNRNPUL2-BSCL2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
4538 Pathogenic: Congenital generalized lipodystrophy type 2 62,694,567(-) C/T
NM_001122955.4(BSCL2):c.630+1G>A
SPLICE_DONOR
835390 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 62,690,380(-) C/T
NM_032667.6(BSCL2):c.1184G>A (p.Cys395Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
840037 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 62,705,369(-) G/C
NM_032667.6(BSCL2):c.144C>G (p.Leu48=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
840979 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 62,691,114(-) G/A
NM_032667.6(BSCL2):c.841C>T (p.Arg281Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
844412 Likely Pathogenic: Charcot-Marie-Tooth disease, type 2 62,702,467(-) C/T
NM_032667.6(BSCL2):c.294+1G>A
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HNRNPUL2-BSCL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HNRNPUL2-BSCL2 Gene

Variant ID Type Subtype PubMed ID
nsv348 CNV deletion 18451855
nsv555174 CNV gain 21841781
nsv832182 CNV gain+loss 17160897

Additional Variant Information for HNRNPUL2-BSCL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNRNPUL2-BSCL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for HNRNPUL2-BSCL2 Gene

Disorders for HNRNPUL2-BSCL2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HNRNPUL2-BSCL2 Gene - From: GCD

Disorder Aliases PubMed IDs
encephalopathy, progressive, with or without lipodystrophy
  • peld
neuronopathy, distal hereditary motor, type vc
  • hmn5c
spastic paraplegia 17
  • autosomal dominant spastic paraplegia type 17
berardinelli-seip congenital lipodystrophy
  • berardinelli-seip congenital generalized lipodystrophy
congenital generalized lipodystrophy
  • beradinelli-seip syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HNRNPUL2-BSCL2

genes like me logo Genes that share disorders with HNRNPUL2-BSCL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HNRNPUL2-BSCL2 Gene

Publications for HNRNPUL2-BSCL2 Gene

  1. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3
  2. Heterozygous deletion of chromosome 17p renders prostate cancer vulnerable to inhibition of RNA polymerase II. (PMID: 30349055) Li Y … Lu X (Nature communications 2018) 3
  3. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. (PMID: 26760575) Uren PJ … Penalva LO (RNA biology 2016) 3
  4. Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. (PMID: 24554482) Leger PD … Haas DW (Journal of neurovirology 2014) 3
  5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3

Products for HNRNPUL2-BSCL2 Gene

Sources for HNRNPUL2-BSCL2 Gene