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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. [provided by RefSeq, Mar 2011]
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.
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, |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | HNRNPUL2 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Hnrnpul2 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | HNRNPUL2 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG30122 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y41E3.11 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
encephalopathy, progressive, with or without lipodystrophy |
|
|
neuronopathy, distal hereditary motor, type vc |
|
|
spastic paraplegia 17 |
|
|
berardinelli-seip congenital lipodystrophy |
|
|
congenital generalized lipodystrophy |
|
|