Human (GRCh37.p13)
Description

Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Source:HGNC Symbol;Acc:15832]

Gene Synonyms

GNG3LG, HMN5, SPG17

Location

Chromosome 11: 62,457,747-62,477,317 reverse strand.

GRCh37:CM000673.1

About this gene

This gene has 28 transcripts (splice variants) and is associated with 7 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000433053.1BSCL2-2012038462aaENSP00000414002.1
 
Protein coding
CCDS44627E9PIU3 E9PJK0 E9PJS9
E9PPN5 E9PRU2 E9PSB5
F8W7Q8 Q96G97
-GENCODE basic
ENST00000405837.1BSCL2-0011984464aaENSP00000385332.1
 
Protein coding
E9PIU3 E9PJK0 E9PJS9
E9PPN5 E9PRU2 E9PSB5
F8W7Q8 J3KQ12
-GENCODE basic
ENST00000403550.1BSCL2-0061693398aaENSP00000385561.1
 
Protein coding
CCDS8031E9PRU2 F8W7Q8 Q96G97
-GENCODE basic
ENST00000360796.5BSCL2-0031683462aaENSP00000354032.5
 
Protein coding
CCDS44627E9PIU3 E9PJK0 E9PJS9
E9PPN5 E9PRU2 E9PSB5
F8W7Q8 Q96G97
NM_001122955.3GENCODE basic
ENST00000407022.3BSCL2-0051516398aaENSP00000384080.3
 
Protein coding
CCDS8031E9PRU2 F8W7Q8 Q96G97
NM_032667.6GENCODE basic
ENST00000421906.1BSCL2-0041440398aaENSP00000413209.1
 
Protein coding
CCDS8031E9PRU2 F8W7Q8 Q96G97
-GENCODE basic
ENST00000278893.7BSCL2-0081364287aaENSP00000278893.7
 
Protein coding
CCDS55769E9PRU2 F8W7Q8 Q96G97
NM_001130702.2GENCODE basic
ENST00000448568.2BSCL2-022992223aaENSP00000413340.2
 
Protein coding
E9PRU2 F8W7Q8 -CDS 3' incomplete
ENST00000524862.1BSCL2-020865226aaENSP00000433888.1
 
Protein coding
E9PIU3 E9PJK0 E9PJS9
E9PPN5 E9PRU2 E9PSB5
-CDS 3' incomplete
ENST00000531524.1BSCL2-023844111aaENSP00000436026.1
 
Protein coding
E9PJS9 E9PPN5 E9PR78
-CDS 3' incomplete
ENST00000464544.1BSCL2-00979493aaENSP00000431782.1
 
Protein coding
E9PJK0 E9PJS9 E9PPN5
-CDS 3' incomplete
ENST00000532818.1BSCL2-019662123aaENSP00000435831.1
 
Protein coding
E9PJK0 E9PJS9 E9PPN5
E9PSB5
-CDS 3' incomplete
ENST00000533982.1BSCL2-02458599aaENSP00000434149.1
 
Protein coding
E9PRU2 -CDS 3' incomplete
ENST00000528874.1BSCL2-02155323aaENSP00000436991.1
 
Protein coding
E9PPN5 -CDS 3' incomplete
ENST00000449636.1BSCL2-012545150aaENSP00000405265.1
 
Protein coding
H7C2D5 -CDS 5' incomplete
ENST00000530009.1BSCL2-01853928aaENSP00000435500.1
 
Protein coding
E9PJS9 E9PPN5 -CDS 3' incomplete
ENST00000403098.2BSCL2-02732679aaENSP00000384258.2
 
Protein coding
H7BYY0 -CDS 5' incomplete
ENST00000525000.1BSCL2-02515452aaENSP00000437044.1
 
Protein coding
--CDS 5' and 3' incomplete
ENST00000301781.6BSCL2-0021712277aaENSP00000301781.5
 
Nonsense mediated decay
E9PJK0 E9PJS9 E9PPN5
E9PRU2 E9PSB5 H7BXM1
--
ENST00000413908.1BSCL2-01057839aaENSP00000393728.1
 
Nonsense mediated decay
E9PJS9 E9PPN5 F8WER0
--
ENST00000537604.1BSCL2-029691No protein-
 
Processed transcript
---
ENST00000412351.1BSCL2-015491No protein-
 
Processed transcript
---
ENST00000530900.1BSCL2-026398No protein-
 
Processed transcript
---
ENST00000526426.1BSCL2-028353No protein-
 
Processed transcript
---
ENST00000532115.1BSCL2-017328No protein-
 
Processed transcript
---
ENST00000463679.1BSCL2-011881No protein-
 
Retained intron
---
ENST00000468505.1BSCL2-013547No protein-
 
Retained intron
---
ENST00000470529.1BSCL2-014512No protein-
 
Retained intron
---