Bscl2 MGI Mouse Gene Detail - MGI:1298392 - BSCL2 lipid droplet biogenesis associated, seipin

Symbol

Bscl2
Name

BSCL2 lipid droplet biogenesis associated, seipin
Synonyms

Gng3lg, seipin

Feature Type

protein coding gene
IDs

MGI:1298392
NCBI Gene: 14705
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr19:8814831-8826047 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 5.76 cM
Mapping Data

6 experiments

SNPs within 2kb

313 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1298392	protein coding gene	Chr19:8814831-8826047 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024814	protein coding gene	Chr19:6120481-6131621 (+)
A/J	MGP_AJ_G0024782	protein coding gene	Chr19:5790002-5801121 (+)
AKR/J	MGP_AKRJ_G0024757	protein coding gene	Chr19:5882090-5895067 (+)
BALB/cJ	MGP_BALBcJ_G0024782	protein coding gene	Chr19:5895100-5906224 (+)
C3H/HeJ	MGP_C3HHeJ_G0024548	protein coding gene	Chr19:5961985-5973115 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025229	protein coding gene	Chr19:6249468-6260589 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022658	protein coding gene	Chr19:6038524-6049933 (+)
CAST/EiJ	MGP_CASTEiJ_G0024021	protein coding gene	Chr19:5612994-5624074 (+)
CBA/J	MGP_CBAJ_G0024522	protein coding gene	Chr19:6359322-6370455 (+)
DBA/2J	MGP_DBA2J_G0024649	protein coding gene	Chr19:5622559-5633682 (+)
FVB/NJ	MGP_FVBNJ_G0024616	protein coding gene	Chr19:5695160-5706282 (+)
LP/J	MGP_LPJ_G0024736	protein coding gene	Chr19:6008783-6019927 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024643	protein coding gene	Chr19:6225329-6236444 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025278	protein coding gene	Chr19:5925104-5936225 (+)
PWK/PhJ	MGP_PWKPhJ_G0023766	protein coding gene	Chr19:5291133-5302287 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023571	protein coding gene	Chr19:5536556-5547872 (+)
WSB/EiJ	MGP_WSBEiJ_G0024083	protein coding gene	Chr19:5895127-5906273 (+)

Human Ortholog

BSCL2, BSCL2 lipid droplet biogenesis associated, seipin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BSCL2, BSCL2 lipid droplet biogenesis associated, seipin
Synonyms

GNG3LG, HMN5, HMN5C, HMND13, PELD, SPG17
Links

HGNC:15832

NCBI Gene ID: 26580

neXtProt AC: NX_Q96G97

UniProt: Q96G97
Chr Location

11q12.3; chr11:62689289-62709845 (-) GRCh38

MGI Vertebrate Homology

Bscl2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: BSCL2
Gene Tree

Bscl2

Diseases

2 with Bscl2 mouse models; 5 with human BSCL2 associations

Human Disease

Mouse Models

congenital generalized lipodystrophy type 2

IDs

View 3 models

male infertility

IDs

View 1 model

autosomal dominant distal hereditary motor neuronopathy 13

IDs

hereditary spastic paraplegia

IDs

hereditary spastic paraplegia 17

IDs

lipodystrophy

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

4 with disease annotations

References

4 with disease annotations

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Phenotype Summary

121 phenotypes from 6 alleles in 7 genetic backgrounds
52 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

19
Endonuclease-mediated

7
Gene trapped

2
Targeted

10
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit severe generalized lipodystrophy with hepatic steatosis, glucose intolerance, and insulin resistance.

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All GO Annotations

28
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

739
Tissues

13
cDNA Data

121
Literature Summary

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN bscl2

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All Sequences

70
RefSeq

10
UniProt

4
CCDS

CCDS29551.2, CCDS70931.1

Ensembl

ENSMUSG00000071657 (Evidence)
NCBI Gene

14705

			Length	Strain/Species	Flank
genomic	14705	NCBI Gene Model \| MGI Sequence Detail	11217	C57BL/6J	± kb
transcript	NM_001136064	RefSeq \| MGI Sequence Detail	1962	ZRU/MplStud
polypeptide	Q9Z2E9	UniProt \| EBI \| MGI Sequence Detail	383	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004829 seipin

(term hierarchy)
InterPro Domains

IPR009617 Seipin family
GlyGen

Q9Z2E9 2 sites, 4 N-linked glycans (1 site)

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All nucleic 127

Genomic 3

cDNA 122

Primer pair 2

Microarray probesets 4

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MGI:2147473

Summaries

All 91

Developmental Gene Expression 4

Diseases 4

Gene Ontology 13

Phenotypes 52
Earliest

J:50600 Downes GB, et al., Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg. Genomics. 1998 Oct 15;53(2):220-30
Latest

J:354440 McClure JJ, et al., Disentangling the detrimental effects of local from systemic adipose tissue dysfunction on articular cartilage in the knee. Osteoarthritis Cartilage. 2024 Aug 3;

TSS for Bscl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154843	Chr19:8814809-8814922 (+)	35 bp
Tssr154844	Chr19:8814925-8814961 (+)	112 bp
Tssr154845	Chr19:8814963-8814972 (+)	137 bp
Tssr154846	Chr19:8815040-8815085 (+)	232 bp
Tssr154847	Chr19:8816135-8816142 (+)	1,308 bp
Tssr154848	Chr19:8816639-8816650 (+)	1,814 bp
Tssr154849	Chr19:8816662-8816710 (+)	1,855 bp
Tssr154850	Chr19:8816716-8816739 (+)	1,897 bp
Tssr154851	Chr19:8816750-8816764 (+)	1,926 bp
Tssr154852	Chr19:8816822-8816834 (+)	1,997 bp
Tssr154853	Chr19:8816835-8816857 (+)	2,015 bp
Tssr154854	Chr19:8816872-8816922 (+)	2,066 bp
Tssr154855	Chr19:8816923-8816944 (+)	2,103 bp
Tssr154856	Chr19:8816950-8816961 (+)	2,125 bp
Tssr154857	Chr19:8817883-8817913 (+)	3,067 bp
Tssr154858	Chr19:8817929-8817941 (+)	3,104 bp
Tssr154859	Chr19:8818544-8818561 (+)	3,722 bp
Tssr154860	Chr19:8818569-8818603 (+)	3,755 bp
Tssr154861	Chr19:8820349-8820399 (+)	5,543 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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