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SPNS2 (SPNS lysolipid transporter 2, sphingosine-1-phosphate)

Gene

124976

SPNS lysolipid transporter 2, sphingosine-1-phosphate

SPNS2

DFNB115, SLC62A2, SLC63A2

17p13.2

The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749994718	TCC>-	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs1555537637	CC>T	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(189)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018966	hsa-miR-335-5p	Microarray	18185580
MIRT647400	hsa-miR-8485	HITS-CLIP	23824327
MIRT647401	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT647399	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT647398	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT647397	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT647396	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT647400	hsa-miR-8485	HITS-CLIP	23824327
MIRT647401	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT647399	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT647398	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT647397	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT647396	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT1385010	hsa-miR-1197	CLIP-seq
MIRT1385011	hsa-miR-1207-5p	CLIP-seq
MIRT1385012	hsa-miR-1224-5p	CLIP-seq
MIRT1385013	hsa-miR-1267	CLIP-seq
MIRT1385014	hsa-miR-147	CLIP-seq
MIRT1385015	hsa-miR-3121-3p	CLIP-seq
MIRT1385016	hsa-miR-3153	CLIP-seq
MIRT1385017	hsa-miR-320a	CLIP-seq
MIRT1385018	hsa-miR-320b	CLIP-seq
MIRT1385019	hsa-miR-320c	CLIP-seq
MIRT1385020	hsa-miR-320d	CLIP-seq
MIRT1385021	hsa-miR-329	CLIP-seq
MIRT1385022	hsa-miR-330-3p	CLIP-seq
MIRT1385023	hsa-miR-331-3p	CLIP-seq
MIRT1385024	hsa-miR-3615	CLIP-seq
MIRT1385025	hsa-miR-3616-3p	CLIP-seq
MIRT1385026	hsa-miR-362-3p	CLIP-seq
MIRT1385027	hsa-miR-3665	CLIP-seq
MIRT1385028	hsa-miR-3911	CLIP-seq
MIRT1385029	hsa-miR-3934	CLIP-seq
MIRT1385030	hsa-miR-3941	CLIP-seq
MIRT1385031	hsa-miR-3943	CLIP-seq
MIRT1385032	hsa-miR-4313	CLIP-seq
MIRT1385033	hsa-miR-4429	CLIP-seq
MIRT1385034	hsa-miR-4436b-3p	CLIP-seq
MIRT1385035	hsa-miR-4648	CLIP-seq
MIRT1385036	hsa-miR-4654	CLIP-seq
MIRT1385037	hsa-miR-466	CLIP-seq
MIRT1385038	hsa-miR-4668-5p	CLIP-seq
MIRT1385039	hsa-miR-4672	CLIP-seq
MIRT1385040	hsa-miR-4728-5p	CLIP-seq
MIRT1385041	hsa-miR-4733-3p	CLIP-seq
MIRT1385042	hsa-miR-4736	CLIP-seq
MIRT1385043	hsa-miR-4740-3p	CLIP-seq
MIRT1385044	hsa-miR-4751	CLIP-seq
MIRT1385045	hsa-miR-4763-3p	CLIP-seq
MIRT1385046	hsa-miR-4768-5p	CLIP-seq
MIRT1385047	hsa-miR-4769-5p	CLIP-seq
MIRT1385048	hsa-miR-4786-3p	CLIP-seq
MIRT1385049	hsa-miR-591	CLIP-seq
MIRT1385050	hsa-miR-603	CLIP-seq
MIRT1385051	hsa-miR-627	CLIP-seq
MIRT1385052	hsa-miR-644	CLIP-seq
MIRT1385053	hsa-miR-924	CLIP-seq
MIRT1385054	hsa-miR-940	CLIP-seq
MIRT1385055	hsa-miR-942	CLIP-seq
MIRT2115212	hsa-miR-1911	CLIP-seq
MIRT2115213	hsa-miR-1912	CLIP-seq
MIRT2115214	hsa-miR-3130-5p	CLIP-seq
MIRT2115215	hsa-miR-3649	CLIP-seq
MIRT2115216	hsa-miR-3909	CLIP-seq
MIRT2115217	hsa-miR-4270	CLIP-seq
MIRT2115218	hsa-miR-4314	CLIP-seq
MIRT2115219	hsa-miR-4441	CLIP-seq
MIRT2115220	hsa-miR-4482	CLIP-seq
MIRT2115221	hsa-miR-4505	CLIP-seq
MIRT2115222	hsa-miR-4691-5p	CLIP-seq
MIRT2115223	hsa-miR-4755-3p	CLIP-seq
MIRT1385010	hsa-miR-1197	CLIP-seq
MIRT1385012	hsa-miR-1224-5p	CLIP-seq
MIRT2337962	hsa-miR-1291	CLIP-seq
MIRT2337963	hsa-miR-1343	CLIP-seq
MIRT2337964	hsa-miR-1913	CLIP-seq
MIRT2337965	hsa-miR-296-5p	CLIP-seq
MIRT2337966	hsa-miR-3148	CLIP-seq
MIRT2337967	hsa-miR-3173-5p	CLIP-seq
MIRT2337968	hsa-miR-3177-5p	CLIP-seq
MIRT2337969	hsa-miR-324-3p	CLIP-seq
MIRT1385023	hsa-miR-331-3p	CLIP-seq
MIRT2115216	hsa-miR-3909	CLIP-seq
MIRT2115217	hsa-miR-4270	CLIP-seq
MIRT2337970	hsa-miR-4308	CLIP-seq
MIRT2115219	hsa-miR-4441	CLIP-seq
MIRT2115222	hsa-miR-4691-5p	CLIP-seq
MIRT1385043	hsa-miR-4740-3p	CLIP-seq
MIRT2337971	hsa-miR-4749-3p	CLIP-seq
MIRT1385044	hsa-miR-4751	CLIP-seq
MIRT2337972	hsa-miR-4778-3p	CLIP-seq
MIRT2337973	hsa-miR-875-3p	CLIP-seq
MIRT2337962	hsa-miR-1291	CLIP-seq
MIRT2395034	hsa-miR-1915	CLIP-seq
MIRT2337967	hsa-miR-3173-5p	CLIP-seq
MIRT1385023	hsa-miR-331-3p	CLIP-seq
MIRT2460446	hsa-miR-1294	CLIP-seq
MIRT2460447	hsa-miR-129-5p	CLIP-seq
MIRT2460448	hsa-miR-3119	CLIP-seq
MIRT1385015	hsa-miR-3121-3p	CLIP-seq
MIRT2460449	hsa-miR-3126-5p	CLIP-seq
MIRT2460450	hsa-miR-4316	CLIP-seq
MIRT2460451	hsa-miR-4419a	CLIP-seq
MIRT2460452	hsa-miR-4464	CLIP-seq
MIRT2460453	hsa-miR-4510	CLIP-seq
MIRT2460454	hsa-miR-4677-3p	CLIP-seq
MIRT1385041	hsa-miR-4733-3p	CLIP-seq
MIRT2460455	hsa-miR-4748	CLIP-seq
MIRT2460446	hsa-miR-1294	CLIP-seq
MIRT2460447	hsa-miR-129-5p	CLIP-seq
MIRT2460448	hsa-miR-3119	CLIP-seq
MIRT1385015	hsa-miR-3121-3p	CLIP-seq
MIRT2460449	hsa-miR-3126-5p	CLIP-seq
MIRT2460450	hsa-miR-4316	CLIP-seq
MIRT2460451	hsa-miR-4419a	CLIP-seq
MIRT2460452	hsa-miR-4464	CLIP-seq
MIRT2460453	hsa-miR-4510	CLIP-seq
MIRT2460454	hsa-miR-4677-3p	CLIP-seq
MIRT1385041	hsa-miR-4733-3p	CLIP-seq
MIRT2460455	hsa-miR-4748	CLIP-seq
MIRT2631352	hsa-miR-1205	CLIP-seq
MIRT2460446	hsa-miR-1294	CLIP-seq
MIRT2460447	hsa-miR-129-5p	CLIP-seq
MIRT2631353	hsa-miR-1909	CLIP-seq
MIRT2395034	hsa-miR-1915	CLIP-seq
MIRT2631354	hsa-miR-2467-3p	CLIP-seq
MIRT2631355	hsa-miR-3074-5p	CLIP-seq
MIRT2631356	hsa-miR-31	CLIP-seq
MIRT2460448	hsa-miR-3119	CLIP-seq
MIRT1385015	hsa-miR-3121-3p	CLIP-seq
MIRT2631357	hsa-miR-3125	CLIP-seq
MIRT2460449	hsa-miR-3126-5p	CLIP-seq
MIRT2631358	hsa-miR-3128	CLIP-seq
MIRT2631359	hsa-miR-3194-3p	CLIP-seq
MIRT2631360	hsa-miR-3678-3p	CLIP-seq
MIRT2631361	hsa-miR-370	CLIP-seq
MIRT2631362	hsa-miR-3916	CLIP-seq
MIRT2631363	hsa-miR-4286	CLIP-seq
MIRT2631364	hsa-miR-4293	CLIP-seq
MIRT2460450	hsa-miR-4316	CLIP-seq
MIRT2460451	hsa-miR-4419a	CLIP-seq
MIRT2631365	hsa-miR-4423-5p	CLIP-seq
MIRT2460452	hsa-miR-4464	CLIP-seq
MIRT2460453	hsa-miR-4510	CLIP-seq
MIRT2631366	hsa-miR-4632	CLIP-seq
MIRT2631367	hsa-miR-4659a-3p	CLIP-seq
MIRT2631368	hsa-miR-4659b-3p	CLIP-seq
MIRT2460454	hsa-miR-4677-3p	CLIP-seq
MIRT2631369	hsa-miR-4687-3p	CLIP-seq
MIRT2631370	hsa-miR-4720-5p	CLIP-seq
MIRT2631371	hsa-miR-4726-3p	CLIP-seq
MIRT2631372	hsa-miR-4729	CLIP-seq
MIRT1385041	hsa-miR-4733-3p	CLIP-seq
MIRT2460455	hsa-miR-4748	CLIP-seq
MIRT2631373	hsa-miR-4763-5p	CLIP-seq
MIRT2631374	hsa-miR-4793-5p	CLIP-seq
MIRT2631375	hsa-miR-4799-3p	CLIP-seq
MIRT2631376	hsa-miR-579	CLIP-seq
MIRT2631377	hsa-miR-615-5p	CLIP-seq
MIRT2631378	hsa-miR-671-3p	CLIP-seq
MIRT2631379	hsa-miR-769-5p	CLIP-seq
MIRT2460446	hsa-miR-1294	CLIP-seq
MIRT2460447	hsa-miR-129-5p	CLIP-seq
MIRT2631356	hsa-miR-31	CLIP-seq
MIRT2460448	hsa-miR-3119	CLIP-seq
MIRT1385015	hsa-miR-3121-3p	CLIP-seq
MIRT2460449	hsa-miR-3126-5p	CLIP-seq
MIRT2631358	hsa-miR-3128	CLIP-seq
MIRT2631359	hsa-miR-3194-3p	CLIP-seq
MIRT2631361	hsa-miR-370	CLIP-seq
MIRT2631364	hsa-miR-4293	CLIP-seq
MIRT2460450	hsa-miR-4316	CLIP-seq
MIRT2460451	hsa-miR-4419a	CLIP-seq
MIRT2631365	hsa-miR-4423-5p	CLIP-seq
MIRT2460452	hsa-miR-4464	CLIP-seq
MIRT2460453	hsa-miR-4510	CLIP-seq
MIRT2631366	hsa-miR-4632	CLIP-seq
MIRT2631367	hsa-miR-4659a-3p	CLIP-seq
MIRT2631368	hsa-miR-4659b-3p	CLIP-seq
MIRT2460454	hsa-miR-4677-3p	CLIP-seq
MIRT2631369	hsa-miR-4687-3p	CLIP-seq
MIRT2631370	hsa-miR-4720-5p	CLIP-seq
MIRT2631372	hsa-miR-4729	CLIP-seq
MIRT1385041	hsa-miR-4733-3p	CLIP-seq
MIRT2460455	hsa-miR-4748	CLIP-seq
MIRT2631373	hsa-miR-4763-5p	CLIP-seq
MIRT2631374	hsa-miR-4793-5p	CLIP-seq
MIRT2631375	hsa-miR-4799-3p	CLIP-seq
MIRT2631376	hsa-miR-579	CLIP-seq

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IEA
GO:0002920	Process	Regulation of humoral immune response	IEA
GO:0003376	Process	Sphingosine-1-phosphate receptor signaling pathway	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006869	Process	Lipid transport	IDA	21084291
GO:0010008	Component	Endosome membrane	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0043029	Process	T cell homeostasis	IEA
GO:0046624	Function	Sphingolipid transporter activity	IDA	21084291
GO:0048073	Process	Regulation of eye pigmentation	IEA
GO:0048535	Process	Lymph node development	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060348	Process	Bone development	IEA
GO:0072676	Process	Lymphocyte migration	IEA

MIM	HGNC	e!Ensembl
612584	26992	ENSG00000183018

Protein

UniProt ID

Q8IVW8

Protein name

Sphingosine-1-phosphate transporter SPNS2 (Protein spinster homolog 2)

Protein function

Lipid transporter that specifically mediates export of sphingosine-1-phosphate (sphing-4-enine 1-phosphate, S1P) and sphinganine-1-phosphate in the lymph, thereby playing a role in lymphocyte trafficking (PubMed:19074308, PubMed:21084291, PubMed

PDB

7YUB , 7YUD , 7YUF , 8EX4 , 8EX5 , 8EX6 , 8EX7 , 8EX8 , 8G92 , 8JHQ , 8JHR , 8KAE , 8QV5 , 8QV6 , 8RL7 , 8RL8 , 8RLC , 8RLD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	108 → 476	Major Facilitator Superfamily	Family

Sequence

MMCLECASAAAGGAEEEEADAERRRRRRGAQRGAGGSGCCGARGAGGAGVSAAGDEVQTL
SGSVRRAPTGPPGTPGTPGCAATAKGPGAQQPKPASLGRGRGAAAAILSLGNVLNYLDRY
TVAGVLLDIQQHFGVKDRGAGLLQSVFICSFMVAAPIFGYLGDRFNRKVILSCGIFFWSA
VTFSSSFIPQQYFWLLVLSRGLVGIGEASYSTIAPTIIGDLFTKNTRTLMLSVFYFAIPL
GSGLGYITGSSVKQAAGDWHWALRVSPVLGMITGTLILILVPATKRGHADQLGDQLKART
SWLRDMKALIRNRSYVFSSLATSAVSFATGALGMWIPLYLHRAQVVQKTAETCNSPPCGA
KDSLIFGAITCFTGFLGVVTGAGATRWCRLKTQRADPLVCAVGMLGSAIFICLIFVAAKS
SIVGAYICIFVGETLLFSNWAITADILMYVVIPTRRATAVALQSFTSHLLGDAGSPYLIG
FISDLIRQSTKDSPLWEFLSLGYALMLCPFVVVLGGMFFLATALFFVSDRARAEQQVNQL
AMPPASVKV

Sequence length

549

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (2)

Causal
Disease name	Disease term	dbSNP ID	References
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	27899622, 19074308, 25356849

Show/Hide Unknown Diseases (1)

Unknown
Disease name	Disease term	dbSNP ID	References
Dysmorphic features	Dysmorphic features		25356849, 19074308, 27899622

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