Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26580
Gene name	BSCL2 lipid droplet biogenesis associated, seipin
Gene symbol	BSCL2
Synonyms (NCBI Gene)	GNG3LGHMN5HMN5CHMND13PELDSPG17
Chromosome	11
Chromosome location	11q12.3
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 lipodystr

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Show/Hide all (111)

miRTarBase ID	miRNA	Experiments	Reference
MIRT480682	hsa-miR-613	PAR-CLIP	23592263
MIRT480681	hsa-miR-206	PAR-CLIP	23592263
MIRT480680	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT480679	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT480678	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT480677	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT480676	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT480675	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT480674	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT480673	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT480672	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT480671	hsa-miR-302a-3p	PAR-CLIP	23592263
MIRT480670	hsa-miR-302b-3p	PAR-CLIP	23592263
MIRT480669	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT480668	hsa-miR-302d-3p	PAR-CLIP	23592263
MIRT480667	hsa-miR-302e	PAR-CLIP	23592263
MIRT480666	hsa-miR-372-3p	PAR-CLIP	23592263
MIRT480665	hsa-miR-373-3p	PAR-CLIP	23592263
MIRT480664	hsa-miR-520a-3p	PAR-CLIP	23592263
MIRT480663	hsa-miR-520b	PAR-CLIP	23592263
MIRT480662	hsa-miR-520c-3p	PAR-CLIP	23592263
MIRT480661	hsa-miR-520d-3p	PAR-CLIP	23592263
MIRT480660	hsa-miR-520e	PAR-CLIP	23592263
MIRT480658	hsa-miR-8066	PAR-CLIP	23592263
MIRT480659	hsa-miR-512-3p	PAR-CLIP	23592263
MIRT480657	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT480656	hsa-miR-764	PAR-CLIP	23592263
MIRT480655	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT480654	hsa-miR-1913	PAR-CLIP	23592263
MIRT480653	hsa-miR-324-3p	PAR-CLIP	23592263
MIRT480652	hsa-miR-18a-3p	PAR-CLIP	23592263
MIRT480651	hsa-miR-6128	PAR-CLIP	23592263
MIRT480650	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT480648	hsa-miR-4784	PAR-CLIP	23592263
MIRT480649	hsa-miR-5702	PAR-CLIP	23592263
MIRT480647	hsa-miR-3135b	PAR-CLIP	23592263
MIRT480646	hsa-miR-1287-5p	PAR-CLIP	23592263
MIRT480645	hsa-miR-4294	PAR-CLIP	23592263
MIRT480644	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT480643	hsa-miR-3153	PAR-CLIP	23592263
MIRT480642	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT480641	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT480640	hsa-miR-346	PAR-CLIP	23592263
MIRT480639	hsa-miR-4316	PAR-CLIP	23592263
MIRT480638	hsa-miR-1294	PAR-CLIP	23592263
MIRT480637	hsa-miR-4689	PAR-CLIP	23592263
MIRT480636	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT480682	hsa-miR-613	PAR-CLIP	23592263
MIRT480681	hsa-miR-206	PAR-CLIP	23592263
MIRT480680	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT480679	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT480678	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT480677	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT480676	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT480675	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT480674	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT480673	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT480672	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT480671	hsa-miR-302a-3p	PAR-CLIP	23592263
MIRT480670	hsa-miR-302b-3p	PAR-CLIP	23592263
MIRT480669	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT480668	hsa-miR-302d-3p	PAR-CLIP	23592263
MIRT480667	hsa-miR-302e	PAR-CLIP	23592263
MIRT480666	hsa-miR-372-3p	PAR-CLIP	23592263
MIRT480665	hsa-miR-373-3p	PAR-CLIP	23592263
MIRT480664	hsa-miR-520a-3p	PAR-CLIP	23592263
MIRT480663	hsa-miR-520b	PAR-CLIP	23592263
MIRT480662	hsa-miR-520c-3p	PAR-CLIP	23592263
MIRT480661	hsa-miR-520d-3p	PAR-CLIP	23592263
MIRT480660	hsa-miR-520e	PAR-CLIP	23592263
MIRT480658	hsa-miR-8066	PAR-CLIP	23592263
MIRT480659	hsa-miR-512-3p	PAR-CLIP	23592263
MIRT480657	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT480656	hsa-miR-764	PAR-CLIP	23592263
MIRT480655	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT480654	hsa-miR-1913	PAR-CLIP	23592263
MIRT480653	hsa-miR-324-3p	PAR-CLIP	23592263
MIRT480652	hsa-miR-18a-3p	PAR-CLIP	23592263
MIRT480651	hsa-miR-6128	PAR-CLIP	23592263
MIRT480650	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT480648	hsa-miR-4784	PAR-CLIP	23592263
MIRT480649	hsa-miR-5702	PAR-CLIP	23592263
MIRT480647	hsa-miR-3135b	PAR-CLIP	23592263
MIRT480646	hsa-miR-1287-5p	PAR-CLIP	23592263
MIRT480645	hsa-miR-4294	PAR-CLIP	23592263
MIRT480644	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT480643	hsa-miR-3153	PAR-CLIP	23592263
MIRT480642	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT480641	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT480640	hsa-miR-346	PAR-CLIP	23592263
MIRT480639	hsa-miR-4316	PAR-CLIP	23592263
MIRT480638	hsa-miR-1294	PAR-CLIP	23592263
MIRT480637	hsa-miR-4689	PAR-CLIP	23592263
MIRT480636	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT2182720	hsa-miR-1	CLIP-seq
MIRT2182721	hsa-miR-106a	CLIP-seq
MIRT2182722	hsa-miR-106b	CLIP-seq
MIRT2182723	hsa-miR-1287	CLIP-seq
MIRT2182724	hsa-miR-17	CLIP-seq
MIRT2182725	hsa-miR-20a	CLIP-seq
MIRT2182726	hsa-miR-20b	CLIP-seq
MIRT2182727	hsa-miR-302a	CLIP-seq
MIRT2182728	hsa-miR-302b	CLIP-seq
MIRT2182729	hsa-miR-302c	CLIP-seq
MIRT2182730	hsa-miR-302d	CLIP-seq
MIRT2182731	hsa-miR-3673	CLIP-seq
MIRT2182732	hsa-miR-372	CLIP-seq
MIRT2182733	hsa-miR-373	CLIP-seq
MIRT2182734	hsa-miR-4749-3p	CLIP-seq
MIRT2182735	hsa-miR-519d	CLIP-seq
MIRT2182736	hsa-miR-93	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 30901948, 30970241, 31515488, 31708432, 32814053
GO:0005543	Function	Phospholipid binding	IDA	30293840
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	14981520, 27879284, 30901948, 31708432
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IDA	27879284, 30970241
GO:0005811	Component	Lipid droplet	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0019915	Process	Lipid storage	IBA
GO:0019915	Process	Lipid storage	IEA
GO:0019915	Process	Lipid storage	IMP	19278620
GO:0034389	Process	Lipid droplet organization	IBA
GO:0034389	Process	Lipid droplet organization	IMP	19278620
GO:0045444	Process	Fat cell differentiation	ISS
GO:0050995	Process	Negative regulation of lipid catabolic process	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	27748422
GO:0140042	Process	Lipid droplet formation	IDA	31178403, 31708432
GO:0140042	Process	Lipid droplet formation	IEA
GO:0140042	Process	Lipid droplet formation	IMP	27564575, 27879284

MIM	HGNC	e!Ensembl
606158	15832	ENSG00000168000

Q96G97

Protein name

Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein)

Protein function

Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:30293840, PubMed:31708432). In association with LDAF1, defines the

PDB

6DS5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06775	Seipin	39 → 243	Putative adipose-regulatory protein (Seipin)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue. {ECO:0000269|PubMed:11479539, ECO:0000269|PubMed:18458148, ECO:0000269|Pub

Sequence

MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTV
SHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVN
QDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLE
VELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA
SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE
STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTE
ANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS

Sequence length

398

Interactions

View interactions

967

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal central motor function	Likely pathogenic; Pathogenic	rs137852973	RCV001813950
Berardinelli-Seip congenital lipodystrophy	Pathogenic; Likely pathogenic	rs587777606, rs786205069, rs587777608, rs786205071, rs137852970, rs137852971, rs758843908, rs137852973, rs137852974, rs137852975, rs749890533, rs766061024, rs1013079991, rs1064797076	RCV003311693 RCV003311636 RCV003311638 RCV003311639 RCV003311640 RCV003311642 RCV003311643 RCV003311647 RCV003311648 RCV003311649 RCV003311803 RCV003311802 RCV003311801 RCV003311824 RCV003311850
Breast carcinoma	Pathogenic	rs190405606	RCV001777125
BSCL2-related disorder	Likely pathogenic; Pathogenic	rs137852973, rs749890533	RCV004766979 RCV004701455
Charcot-Marie-Tooth disease	Pathogenic	rs137852973	RCV000789082
Charcot-Marie-Tooth disease type 2	Likely pathogenic; Pathogenic	rs777430457, rs2134690008, rs2134689565, rs1244155207, rs587777606, rs587777608, rs786205071, rs137852971, rs758843908, rs137852973, rs137852975, rs2539155047, rs2539181714, rs2539154728, rs1402657239 View all (8 more)	RCV001379197 RCV001390710 RCV001864691 RCV001970095 RCV000800475 RCV005089168 RCV002512772 RCV003581554 RCV001851654 RCV000547334 RCV000196081 RCV002681753 RCV002846756 RCV003048498 RCV003581939 RCV003582731 RCV003744196 RCV003743517 RCV001387719 RCV000544751 RCV000536990 RCV001047252 RCV001218067 RCV001240096 RCV001232406
Congenital generalized lipodystrophy type 2	Pathogenic; Likely pathogenic	rs587777606, rs1011200048, rs786205069, rs587777608, rs786205071, rs137852970, rs137852971, rs758843908, rs137852974, rs137852975, rs879254029, rs749890533, rs766061024, rs1013079991, rs1057524896 View all (8 more)	RCV000412493 RCV002248981 RCV000004790 RCV000004793 RCV000004794 RCV000004795 RCV000004797 RCV000004798 RCV000004804 RCV000004805 RCV000761469 RCV000412601 RCV000412618 RCV000412607 RCV004796180 RCV000487432 RCV000503732 RCV000754917 RCV000754918 RCV000754916 RCV000754919 RCV000761421 RCV005049743 RCV005049797
Developmental and epileptic encephalopathy	Likely pathogenic	rs2539174013	RCV003225675
Hereditary spastic paraplegia 17	Pathogenic; Likely pathogenic	rs786205071, rs137852971, rs137852973, rs749890533, rs766061024, rs1011200048, rs779154593	RCV002496260 RCV005049316 RCV000004803 RCV002502439 RCV005049541 RCV002284966 RCV005049743 RCV005049797
Lipodystrophy	Likely pathogenic; Pathogenic	rs1064797076	RCV001836829
Monogenic diabetes	Likely pathogenic; Pathogenic	rs1057524896	RCV000445443
Neuronopathy, distal hereditary motor, type 5A	Likely pathogenic; Pathogenic	rs137852973	RCV000755016
Neuronopathy, distal hereditary motor, type 5C	Pathogenic; Likely pathogenic	rs786205071, rs137852970, rs137852971, rs137852973, rs749890533, rs766061024, rs1011200048, rs779154593	RCV002496260 RCV002298433 RCV005049316 RCV001270681 RCV002502439 RCV005049541 RCV001270682 RCV005049743 RCV005049797
Reduced delayed hypersensitivity	Pathogenic	rs190405606	RCV001775209
Severe neurodegenerative syndrome with lipodystrophy	Pathogenic; Likely pathogenic	rs587777606, rs2539144290, rs587777608, rs786205071, rs137852971, rs758843908, rs749890533, rs766061024, rs1057524896, rs1011200048, rs779154593	RCV000133397 RCV002465429 RCV000133399 RCV002496260 RCV005049316 RCV006249352 RCV002502439 RCV005049541 RCV004796180 RCV005049743 RCV001196242 RCV005049797
Symphalangism affecting the proximal phalanx of the 4th finger	Pathogenic	rs190405606	RCV001775210

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BSCL2-related Developmental and epileptic encephalopathy	Uncertain significance	rs1060503382	RCV001836825
Congenital generalized lipodystrophy	Conflicting classifications of pathogenicity	rs144245125	RCV000328674
Hereditary spastic paraplegia	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs778455259, rs144725547, rs370905417, rs145393127, rs1196120956, rs1440384464, rs2134740707, rs145649423, rs6856, rs149466797, rs786205072, rs144245125, rs369806785, rs117862461, rs117597269 View all (9 more)	RCV001847241 RCV001847239 RCV001848344 RCV001848345 RCV001848346 RCV001848347 RCV001848348 RCV001847675 RCV001847676 RCV001847805 RCV001847581 RCV001847821 RCV001847934 RCV001848085 RCV001848084 RCV001848785 RCV001848815 RCV000515840 RCV000516060 RCV001848974 RCV001848989 RCV001849047 RCV005626194 RCV001847050
Intellectual disability	Conflicting classifications of pathogenicity	rs149907021	RCV005625614
Isolated systolic hypertension	Benign	rs6856	RCV002463437
Neurologic Disorders/Seipinopathy	Conflicting classifications of pathogenicity	rs144245125	RCV000271246
Neutrophilia in presence of infection	Benign	rs6856	RCV002463437
PPARG-related familial partial lipodystrophy	Likely benign	rs1057516190	RCV000408866
See cases	Uncertain significance	rs2083510633, rs2539144149	RCV002252845 RCV003232938
Triangular shaped proximal phalanx of the thumb	Benign	rs6856	RCV002463437
Young-onset Parkinson disease	Uncertain significance	rs140762669	RCV005626690

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
6q24 Related Transient Neonatal Diabetes Mellitus	Associate	35351089
Aphasia	Associate	30903322
Brain Diseases	Associate	27391332, 29367704, 30447390, 30903322, 31341166, 31369919
Cardiomyopathies	Associate	21126715, 27612026
Cardiomyopathy Hypertrophic	Associate	19041432, 20616664, 23659685
Charcot Marie Tooth Disease	Associate	29336362
Cognition Disorders	Associate	30563316
COVID 19	Associate	36510129
Cystic Fibrosis	Inhibit	33482299
Daneman Davy Mancer syndrome	Associate	16735770
Death	Stimulate	12362029, 30296183
Diabetes Mellitus	Associate	23659685, 27612026, 30296183, 32792356, 35351089, 38408297
Diabetes Mellitus Type 2	Associate	30563316
Distal Hereditary Motor Neuropathy Type II	Associate	17663003
Embolism Fat	Stimulate	30296183
Embolism Fat	Associate	30901948
Epilepsies Myoclonic	Associate	30903322
Epileptic Encephalopathy Early Infantile 3	Associate	31369919
Genetic Diseases Inborn	Associate	32792356, 38408297
Glycogen Storage Disease Type IV	Associate	32349771
Heart Diseases	Associate	19041432
Heart Failure	Associate	19041432
Hereditary Myopathy with Early Respiratory Failure	Associate	36539320
Heredodegenerative Disorders Nervous System	Associate	27391332
Hypertension	Associate	19041432
Hypertrophy	Associate	29478747
Infantile Epileptic Dyskinetic Encephalopathy	Associate	31369919
Infections	Associate	35351089
Inflammation	Associate	36510129
Intellectual Disability	Associate	15181077
Intellectual Disability	Stimulate	30296183
Iron Deficiencies	Associate	39773523
Lipid Metabolism Disorders	Associate	25832430
Lipodystrophy	Inhibit	12362029
Lipodystrophy	Associate	23659685, 24961962, 30903322, 30940487, 36384728, 38231342, 38408297
Lipodystrophy Congenital Generalized	Associate	12362029, 15181077, 16735770, 18211975, 19041432, 20684003, 21062080, 21126715, 23659685, 24961962, 27144933, 27612026, 27868354, 29478747, 30296183 View all (10 more)
Mental Retardation Autosomal Recessive 1	Stimulate	12362029
Mental Retardation Autosomal Recessive 1	Associate	21126715
Mobility Limitation	Associate	29478747
Motor Neuron Disease	Associate	39773523
Muscular Atrophy Spinal	Associate	19396477
Muscular Diseases	Associate	27144933, 36539320
Muscular dystrophy congenital with central nervous system involvement	Associate	30903322
Nerve Degeneration	Associate	19396477
Neurologic Manifestations	Associate	30901948, 30903322
Neuronopathy Distal Hereditary Motor Type V	Associate	16574104, 17663003
Ovarian Neoplasms	Associate	31655274
Parkinson Disease	Associate	40594234
pediatric multisystem inflammatory disease COVID 19 related	Associate	36510129
Peripheral Nervous System Diseases	Associate	17663003, 25832430
Polyneuropathies	Associate	30563316
Spastic paraplegia 17	Associate	11389484, 16574104, 17663003
Spastic Paraplegia Hereditary	Associate	17663003
Thyroid Cancer Papillary	Associate	30864635

BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin)