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

Subcategory (RNA class) for HNRNPUL2-BSCL2 Gene

lncRNA

Quality Score for this RNA gene is

14

Aliases for HNRNPUL2-BSCL2 Gene

  • HNRNPUL2-BSCL2 Readthrough (NMD Candidate) 2 3 5 13
  • Lnc-HNRNPUL2-BSCL2-1 170
  • HSALNG0084644 169
  • NONHSAG008537 94
  • HSALNG0084640 169
  • HCG2044799 13

External Ids for HNRNPUL2-BSCL2 Gene

Previous GeneCards Identifiers for HNRNPUL2-BSCL2 Gene

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

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 Spastic Paraplegia 17. 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 for HNRNPUL2-BSCL2 Gene

Promoters and enhancers for HNRNPUL2-BSCL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J062724 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 0.0 -17 6.8 SIN3A ZNF24 ZBTB40 SP1 SREBF1 ZBTB6 RBPJ POLR2A CTBP1 FOS TTC9C HNRNPUL2 HNRNPUL2-BSCL2 GNG3 BSCL2 SCGB1D1 EEF1DP8 ENSG00000203520 RTN3 SLC22A6
GH11J062749 Enhancer 0.6 Ensembl ENCODE 12 -23.3 -23317 2.6 ZNF362 ZNF384 PRDM10 ZBTB33 piR-33614-038 piR-44930 TTC9C HNRNPUL2 HNRNPUL2-BSCL2 TAF6L SNORD22 SLC3A2 SNHG1 AHNAK
GH11J062704 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.4 +19.4 19395 6.1 SIN3A SP1 ZBTB40 CTCF SIX5 POLR2A HCFC1 ZNF133 MYC ELF1 BSCL2 GNG3 TTC9C TMEM179B EML3 MTA2 IMMP1LP1 NXF1 INTS5 UBXN1
GH11J062712 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 0.4 +13.3 13299 3.8 FOXA1 SP1 CBFA2T2 MLLT1 PRDM1 RXRA FOXA2 ZNF316 NR2C1 JUND piR-45619 HNRNPUL2 TTC9C UBXN1 LBHD1 LRRN4CL POLR2G GANAB B3GAT3 UQCC3
GH11J062687 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 0.3 +37.9 37884 4.2 SP7 ZSCAN21 IKZF1 GLIS2 PATZ1 POLR2A ZNF629 MTA2 ZBTB48 ZBTB10 LRRN4CL UBXN1 BSCL2 TTC9C GANAB lnc-UQCC3-2 HNRNPUL2-BSCL2
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for HNRNPUL2-BSCL2 Gene

Genomic Locations for HNRNPUL2-BSCL2 Gene
chr11:62,690,262-62,727,384
(GRCh38/hg38)
Size:
37,123 bases
Orientation:
Minus strand
chr11:62,457,734-62,494,856
(GRCh37/hg19)
Size:
37,123 bases
Orientation:
Minus strand

Genomic View for HNRNPUL2-BSCL2 Gene

Genes around HNRNPUL2-BSCL2 on UCSC Golden Path with GeneCards custom track

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

Phenotypes From GWAS Catalog 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

Gene Ontology (GO) - Cellular Components for HNRNPUL2-BSCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IBA --
genes like me logo Genes that share ontologies with HNRNPUL2-BSCL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) 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 and SIGNOR curated interactions for HNRNPUL2-BSCL2 Gene

Drugs & Compounds for HNRNPUL2-BSCL2 Gene

No Compound Related Data Available

Transcripts for HNRNPUL2-BSCL2 Gene

mRNA/cDNA for HNRNPUL2-BSCL2 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
(6) RNACentral transcripts :
(2) LncBook transcripts :
(1) NONCODE transcripts :
(5) LNCipedia transcripts :

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
ECgene alternative splicing isoforms for
HNRNPUL2-BSCL2

Expression for HNRNPUL2-BSCL2 Gene

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

Evidence on tissue expression from TISSUES for HNRNPUL2-BSCL2 Gene

  • Heart(2.5)
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 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 -- 33
  • 93 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HNRNPUL2 33
  • 93 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hnrnpul2 33
  • 92 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 59 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii HNRNPUL2 33
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30122 33
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y41E3.11 33
  • 8 (a)
OneToMany
Species where no ortholog for HNRNPUL2-BSCL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for HNRNPUL2-BSCL2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1013079991 pathogenic, Congenital generalized lipodystrophy type 2 62,692,475(-) T/C splice_acceptor_variant
rs1057516190 likely-pathogenic, Familial partial lipodystrophy 3 62,690,439(-) G/T non_coding_transcript_variant
rs1057517657 pathogenic, Congenital generalized lipodystrophy type 2 62,705,371(-) G/A non_coding_transcript_variant
rs1057517658 pathogenic, Congenital generalized lipodystrophy type 2 62,705,358(-) AA/AAAA non_coding_transcript_variant
rs1057517659 pathogenic, Congenital generalized lipodystrophy type 2 62,705,320(-) G/TCC non_coding_transcript_variant

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

(4) MalaCards diseases for HNRNPUL2-BSCL2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
encephalopathy, progressive, with or without lipodystrophy
  • peld
spastic paraplegia 17
  • russell-silver syndrome
berardinelli-seip congenital lipodystrophy
  • lipoatrophic diabetes
charcot-marie-tooth disease
  • peroneal muscular atrophy
- 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. 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 56
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 56
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 13 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 56
  5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R … Stanton LW (Nature biotechnology 2004) 3 56

Products for HNRNPUL2-BSCL2 Gene

Sources for HNRNPUL2-BSCL2 Gene