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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
External Ids for HNRNPUL2-BSCL2 Gene
- HGNC: 49189
- Entrez Gene: 100534595
- Ensembl: ENSG00000234857
- UniProtKB: H3BQZ7
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
-
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
- Monarch Initiative
- Search for HNRNPUL2-BSCL2 at DataMed
- Search for HNRNPUL2-BSCL2 at HumanCyc
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
- 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:
-
- 11q12.3 by HGNC
- 11q12.3 by Entrez Gene
- 11q12.3 by Ensembl
HNRNPUL2-BSCL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
Post-translational modifications for HNRNPUL2-BSCL2 Gene
No Post-translational modifications
Other Protein References for HNRNPUL2-BSCL2 Gene
- ENSEMBL proteins:
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HNRNPUL2-BSCL2
- Origene Custom Protein Services for HNRNPUL2-BSCL2
No data available for DME Specific Peptides for HNRNPUL2-BSCL2 Gene
Domains & Families for HNRNPUL2-BSCL2 Gene
Protein Domains for HNRNPUL2-BSCL2 Gene
- InterPro:
- ProtoNet:
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
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
miRNA Products
Inhibitory RNA Products
Clone Products
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IBA | -- |
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
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 :
-
- ENST00000403734 4001 bps (ENST00000403734.2)
- (6) RNACentral transcripts :
- (2) LncBook transcripts :
- (1) NONCODE transcripts :
- (5) LNCipedia transcripts :
CRISPR Products
- Browse CRISPR knockouts for HNRNPUL2-BSCL2
miRNA Products
Inhibitory RNA Products
Clone Products
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
Evidence on tissue expression from TISSUES for HNRNPUL2-BSCL2 Gene
- Heart(2.5)
Primer Products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | -- 33 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | HNRNPUL2 33 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Hnrnpul2 33 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | HNRNPUL2 33 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG30122 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | Y41E3.11 33 |
|
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
Variants 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 |
Additional Variant Information for HNRNPUL2-BSCL2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HNRNPUL2-BSCL2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for HNRNPUL2-BSCL2 Gene
Disorders for HNRNPUL2-BSCL2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| encephalopathy, progressive, with or without lipodystrophy |
|
|
| spastic paraplegia 17 |
|
|
| berardinelli-seip congenital lipodystrophy |
|
|
| charcot-marie-tooth disease |
|
|
Search HNRNPUL2-BSCL2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HNRNPUL2-BSCL2
No data available for UniProtKB/Swiss-Prot and Genatlas for HNRNPUL2-BSCL2 Gene
Publications for HNRNPUL2-BSCL2 Gene
- 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
- Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 56
- Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 13 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 56
- 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
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- Browse OriGene qPCR primer pairs and template standards
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Sources for HNRNPUL2-BSCL2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
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- (130) VectorBuilder
- (131) SNPedia
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- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
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- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource