BSCL2

GENE INFORMATION

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Gene name

BSCL2 (HGNC Symbol)

Synonyms

GNG3LG, SPG17

Description

Berardinelli-Seip congenital lipodystrophy 2 (seipin) (HGNC Symbol)

Entrez gene summary

This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]

Chromosome

11 (Chromosome progress)

Cytoband

q12.3

Chromosome location (bp)

62457747 - 62477317

Ensembl

ENSG00000168000 (version 73.37)

Entrez gene

26580

UniProt

Q96G97 (UniProt - Evidence at protein level)

neXtProt

NX_Q96G97

Antibodypedia

BSCL2 antibodies
 

PROTEIN VIEW

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 « 
 
BSCL2-001
 
BSCL2-002
 
BSCL2-003
 
BSCL2-004
 
BSCL2-005
 
BSCL2-006
 
BSCL2-008
 
BSCL2-009
 
BSCL2-010
 
BSCL2-012
 
BSCL2-018
 
BSCL2-019
 
BSCL2-020
 
BSCL2-021
 
BSCL2-022
 
BSCL2-023
 
BSCL2-024
 
BSCL2-025
 
BSCL2-027
 
BSCL2-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BSCL2-001 ENSP00000385332
ENST00000405837
J3KQ12
Show all »
Show » Show » 464 51.3 No 3
BSCL2-002 ENSP00000301781
ENST00000301781
H7BXM1
Show all »
Show » Show » 277 30.6 No 1
BSCL2-003 ENSP00000354032
ENST00000360796
Q96G97
Show all »
Show » Show » 462 51.2 No 3
BSCL2-004 ENSP00000413209
ENST00000421906
Q96G97
Show all »
Show » Show » 398 44.4 No 3
BSCL2-005 ENSP00000384080
ENST00000407022
Q96G97
Show all »
Show » Show » 398 44.4 No 3
BSCL2-006 ENSP00000385561
ENST00000403550
Q96G97
Show all »
Show » Show » 398 44.4 No 3
BSCL2-008 ENSP00000278893
ENST00000278893
Q96G97
Show all »
Show » Show » 287 32.7 No 2
BSCL2-009 ENSP00000431782
ENST00000464544
E9PJK0
Show all »
Show » 93 10 No 0
BSCL2-010 ENSP00000393728
ENST00000413908
F8WER0
Show all »
Show » 39 4.3 No 0
BSCL2-012 ENSP00000405265
ENST00000449636
H7C2D5
Show all »
150 16.2 No 0
BSCL2-018 ENSP00000435500
ENST00000530009
E9PJS9
Show all »
Show » 28 3.1 No 0
BSCL2-019 ENSP00000435831
ENST00000532818
E9PSB5
Show all »
Show » Show » 123 13.5 No 1
BSCL2-020 ENSP00000433888
ENST00000524862
E9PIU3
Show all »
Show » Show » 226 25.1 No 1
BSCL2-021 ENSP00000436991
ENST00000528874
E9PPN5
Show all »
Show » 23 2.6 No 0
BSCL2-022 ENSP00000413340
ENST00000448568
F8W7Q8
Show all »
Show » Show » 223 25.3 No 2
BSCL2-023 ENSP00000436026
ENST00000531524
E9PR78
Show all »
Show » Show » 111 12.6 No 0
BSCL2-024 ENSP00000434149
ENST00000533982
E9PRU2
Show all »
Show » Show » 99 11.1 No 1
BSCL2-025 ENSP00000437044
ENST00000525000
52 5.7 No 0
BSCL2-027 ENSP00000384258
ENST00000403098
H7BYY0
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79 8.8 No 0
BSCL2-201 ENSP00000414002
ENST00000433053
Q96G97
Show all »
Show » Show » 462 51.2 No 3