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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6710
Gene name Gene Name - the full gene name approved by the HGNC.	Spectrin beta, erythrocytic
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SPTB
Synonyms (NCBI Gene) Gene synonyms aliases	EL3, HS2, HSPTB1, SPH2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EL3, SPH2
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in th

Show/Hide all(26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs17180350	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918645	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918646	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918647	G>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918648	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918649	A>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918650	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918651	T>C	Pathogenic	Missense variant, initiator codon variant
rs150471537	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs200386310	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs267607086	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204766	C>T	Likely-pathogenic	Splice donor variant
rs863223302	C>A	Pathogenic	Intron variant, genic downstream transcript variant
rs863223303	->TC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs863223304	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555366592	->AA	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555366607	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555367318	ACCTGGGCCTC>-	Pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1555367359	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555367789	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1555370967	CACGAGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555371769	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566754467	C>A	Pathogenic	Stop gained, coding sequence variant
rs1594753904	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1594767593	G>A	Pathogenic	Stop gained, coding sequence variant
rs1594770057	T>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018509	hsa-miR-335-5p	Microarray	18185580
MIRT043541	hsa-miR-331-3p	CLASH	23622248
MIRT1386682	hsa-miR-1233	CLIP-seq
MIRT1386683	hsa-miR-1238	CLIP-seq
MIRT1386684	hsa-miR-125a-5p	CLIP-seq
MIRT1386685	hsa-miR-125b	CLIP-seq
MIRT1386686	hsa-miR-1275	CLIP-seq
MIRT1386687	hsa-miR-129-3p	CLIP-seq
MIRT1386688	hsa-miR-129-5p	CLIP-seq
MIRT1386689	hsa-miR-1299	CLIP-seq
MIRT1386690	hsa-miR-1470	CLIP-seq
MIRT1386691	hsa-miR-1913	CLIP-seq
MIRT1386692	hsa-miR-3158-3p	CLIP-seq
MIRT1386693	hsa-miR-324-3p	CLIP-seq
MIRT1386694	hsa-miR-3622a-3p	CLIP-seq
MIRT1386695	hsa-miR-3622b-3p	CLIP-seq
MIRT1386696	hsa-miR-3667-3p	CLIP-seq
MIRT1386697	hsa-miR-370	CLIP-seq
MIRT1386698	hsa-miR-3923	CLIP-seq
MIRT1386699	hsa-miR-3960	CLIP-seq
MIRT1386700	hsa-miR-4265	CLIP-seq
MIRT1386701	hsa-miR-4271	CLIP-seq
MIRT1386702	hsa-miR-4285	CLIP-seq
MIRT1386703	hsa-miR-4290	CLIP-seq
MIRT1386704	hsa-miR-4296	CLIP-seq
MIRT1386705	hsa-miR-4319	CLIP-seq
MIRT1386706	hsa-miR-4322	CLIP-seq
MIRT1386707	hsa-miR-4417	CLIP-seq
MIRT1386708	hsa-miR-4436b-5p	CLIP-seq
MIRT1386709	hsa-miR-4446-3p	CLIP-seq
MIRT1386710	hsa-miR-4467	CLIP-seq
MIRT1386711	hsa-miR-4493	CLIP-seq
MIRT1386712	hsa-miR-4506	CLIP-seq
MIRT1386713	hsa-miR-4640-5p	CLIP-seq
MIRT1386714	hsa-miR-4665-5p	CLIP-seq
MIRT1386715	hsa-miR-4691-5p	CLIP-seq
MIRT1386716	hsa-miR-4694-3p	CLIP-seq
MIRT1386717	hsa-miR-4695-5p	CLIP-seq
MIRT1386718	hsa-miR-4725-3p	CLIP-seq
MIRT1386719	hsa-miR-4726-5p	CLIP-seq
MIRT1386720	hsa-miR-4732-3p	CLIP-seq
MIRT1386721	hsa-miR-4747-5p	CLIP-seq
MIRT1386722	hsa-miR-4749-3p	CLIP-seq
MIRT1386723	hsa-miR-4763-5p	CLIP-seq
MIRT1386724	hsa-miR-4767	CLIP-seq
MIRT1386725	hsa-miR-4782-5p	CLIP-seq
MIRT1386726	hsa-miR-516b	CLIP-seq
MIRT1386727	hsa-miR-522	CLIP-seq
MIRT1386728	hsa-miR-548ae	CLIP-seq
MIRT1386729	hsa-miR-548aj	CLIP-seq
MIRT1386730	hsa-miR-548am	CLIP-seq
MIRT1386731	hsa-miR-548x	CLIP-seq
MIRT1386732	hsa-miR-628-3p	CLIP-seq
MIRT1386733	hsa-miR-629	CLIP-seq
MIRT1386734	hsa-miR-659	CLIP-seq
MIRT1386735	hsa-miR-670	CLIP-seq
MIRT1554121	hsa-miR-1261	CLIP-seq
MIRT1554122	hsa-miR-1267	CLIP-seq
MIRT1554123	hsa-miR-137	CLIP-seq
MIRT1554124	hsa-miR-3201	CLIP-seq
MIRT1554125	hsa-miR-4791	CLIP-seq
MIRT1554126	hsa-miR-654-3p	CLIP-seq
MIRT2115761	hsa-miR-1266	CLIP-seq
MIRT2115762	hsa-miR-3127-5p	CLIP-seq
MIRT2115763	hsa-miR-3135b	CLIP-seq
MIRT2115764	hsa-miR-3192	CLIP-seq
MIRT2115765	hsa-miR-3652	CLIP-seq
MIRT2115766	hsa-miR-3907	CLIP-seq
MIRT2115767	hsa-miR-3918	CLIP-seq
MIRT2115768	hsa-miR-4299	CLIP-seq
MIRT2115769	hsa-miR-4430	CLIP-seq
MIRT1386709	hsa-miR-4446-3p	CLIP-seq
MIRT2115770	hsa-miR-4456	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2115773	hsa-miR-4518	CLIP-seq
MIRT2115774	hsa-miR-548q	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT1386723	hsa-miR-4763-5p	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395126	hsa-miR-3176	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2395128	hsa-miR-3922-3p	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2395132	hsa-miR-668	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2440793	hsa-miR-593	CLIP-seq
MIRT2440794	hsa-miR-661	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2440793	hsa-miR-593	CLIP-seq
MIRT2440794	hsa-miR-661	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2460490	hsa-miR-339-5p	CLIP-seq
MIRT1386682	hsa-miR-1233	CLIP-seq
MIRT2691934	hsa-miR-146b-3p	CLIP-seq
MIRT2691935	hsa-miR-1914	CLIP-seq
MIRT2691936	hsa-miR-3157-3p	CLIP-seq
MIRT2691937	hsa-miR-383	CLIP-seq
MIRT2691938	hsa-miR-3942-3p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0003779	Function	Actin binding	TAS	2195026
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	10751147, 12820899, 16060676, 20197550, 23414517, 32814053
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0008091	Component	Spectrin	IEA
GO:0014731	Component	Spectrin-associated cytoskeleton	IDA	379653
GO:0015629	Component	Actin cytoskeleton	TAS	10950304
GO:0030506	Function	Ankyrin binding	IPI	8159688
GO:0031235	Component	Intrinsic component of the cytoplasmic side of the plasma membrane	TAS	10950304
GO:0032991	Component	Protein-containing complex	IDA	16060676
GO:0051015	Function	Actin filament binding	IDA	16060676
GO:0051693	Process	Actin filament capping	IEA

MIM	HGNC	e!Ensembl
182870	11274	ENSG00000070182

Protein

UniProt ID

P11277

Protein name

Spectrin beta chain, erythrocytic (Beta-I spectrin)

Protein function

Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

PDB

1S35 , 3EDU , 3F57 , 3KBT , 3KBU , 3LBX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	54 → 159	Calponin homology (CH) domain	Domain
PF00307	CH	173 → 279	Calponin homology (CH) domain	Domain
PF00435	Spectrin	302 → 412	Spectrin repeat	Domain
PF00435	Spectrin	422 → 526	Spectrin repeat	Domain
PF00435	Spectrin	528 → 635	Spectrin repeat	Domain
PF00435	Spectrin	637 → 741	Spectrin repeat	Domain
PF00435	Spectrin	743 → 846	Spectrin repeat	Domain
PF00435	Spectrin	848 → 952	Spectrin repeat	Domain
PF00435	Spectrin	954 → 1059	Spectrin repeat	Domain
PF00435	Spectrin	1061 → 1166	Spectrin repeat	Domain
PF00435	Spectrin	1168 → 1272	Spectrin repeat	Domain
PF00435	Spectrin	1274 → 1377	Spectrin repeat	Domain
PF00435	Spectrin	1385 → 1482	Spectrin repeat	Domain
PF00435	Spectrin	1478 → 1582	Spectrin repeat	Domain
PF00435	Spectrin	1584 → 1688	Spectrin repeat	Domain
PF00435	Spectrin	1690 → 1795	Spectrin repeat	Domain
PF00435	Spectrin	1797 → 1901	Spectrin repeat	Domain
PF00435	Spectrin	1903 → 2007	Spectrin repeat	Domain
PF00435	Spectrin	2009 → 2095	Spectrin repeat	Domain

Sequence

MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTF
TKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTKGKMRIHCLENVDKAL
QFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALL
LWCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFNV
AERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIET
EKMIEKYSGLASDLLTWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKG
NLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRA
LEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLETTLALQKLFQDMLHS
IDWMDEIKAHLLSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKAITAATLKFTEGKGY
QPCDPQVIQDRISHLEQCFEELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIY
SSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLEQIFQEAHGMVARKQFGHPQIEARIKE
VSAQWDQLKDLAAFCKKNLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRA
LGKKHKDFLEELEESRGVMEHLEQQAQGFPEEFRDSPDVTHRLQALRELYQQVVAQADLR
QQRLQEALDLYTVFGETDACELWMGEKEKWLAEMEMPDTLEDLEVVQHRFDILDQEMKTL
MTQIDGVNLAANSLVESGHPRSREVKQYQDHLNTRWQAFQTLVSERREAVDSALRVHNYC
VDCEETSKWITDKTKVVESTKDLGRDLAGIIAIQRKLSGLERDVAAIQARVDALERESQQ
LMDSHPEQKEDIGQRQKHLEELWQGLQQSLQGQEDLLGEVSQLQAFLQDLDDFQAWLSIT
QKAVASEDMPESLPEAEQLLQQHAGIKDEIDGHQDSYQRVKESGEKVIQGQTDPEYLLLG
QRLEGLDTGWNALGRMWESRSHTLAQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSL
EAAEAGIRKFEDFLGSMENNRDKVLSPVDSGNKLVAEGNLYSDKIKEKVQLIEDRHRKNN
EKAQEASVLLRDNLELQNFLQNCQELTLWINDKLLTSQDVSYDEARNLHNKWLKHQAFVA
ELASHEGWLENIDAEGKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARS
SDLRLQTHADLNKWISAMEDQLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFA
QVPSMGEEGGDADLSIEKRFLDLLEPLGRRKKQLESSRAKLQISRDLEDETLWVEERLPL
AQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQRGQQLVEAAEIDCQDLEERLG
HLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISDEIPKDEEGAI
VMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAE
ERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETG
AIGQERVDNVNAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLH
RYFYTGAEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVAT
RLQTAYAGEKAEAIQNKEQEVSAAWQALLDACAGRRTQLVDTADKFRFFSMARDLLSWME
SIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFSACLELGESLLQRQHQASEEI
REKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEPYLASGDFGHT
VDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQIAERPAEETGPQEEEGETAG
EAPVSHHAATERTSPVSLWSRLSSSWESLQPEPSHPY

Sequence length

2137

Interactions

View interactions

	Reactome
			NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport

Show/Hide Causal Diseases (12)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Hemolytic, Congenital, Anemia, Microangiopathic, Anemia, Neonatal, Anemia, hereditary spherocytic hemolytic, stomatocytic anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	9005995, 23664421
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Elliptocytosis	Elliptocytosis, Hereditary, ELLIPTOCYTOSIS 3	rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564 View all (1 more)	1975598, 8226774, 23664421, 27906107, 7883966, 8018926
Hereditary elliptocytosis	Hereditary elliptocytosis	rs869025285
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	rs121918647, rs757679761, rs121918637, rs121918642, rs121918641, rs757147440, rs1557961718, rs1394141324, rs752114200, rs1035389616, rs1571530070
Hereditary spherocytosis	Hereditary spherocytosis	rs137852829, rs137852830, rs137852831, rs397514029, rs786205243, rs121918646, rs121918648, rs121918651, rs863223304, rs267607086, rs754614154, rs266257354, rs121917734, rs266257355, rs115998465 View all (40 more)	23664421, 8102379, 19538529
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hyperbilirubinemia	Hyperbilirubinemia, Hyperbilirubinemia, Neonatal	rs34993780, rs587784535, rs797046090, rs797046091
Hypofibrinogenemia	Hypofibrinogenemia	rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Restrictive cardiomyopathy	Restrictive cardiomyopathy	rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583
Spherocytosis	SPHEROCYTOSIS, HEREDITARY, 2	rs786205242, rs786205243, rs786205244, rs121918634	11703334, 8844207, 8102379, 19538529, 8226774, 9714702, 7883966, 27906107
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154 View all (56 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Hereditary Spherocytosis	hereditary spherocytosis type 2	GenCC
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining
Acquired Immunodeficiency Syndrome	Associate	25009819
Anemia Diamond Blackfan	Associate	33847457
Anemia Hemolytic Congenital	Associate	35406697, 37697358
Anemia Neonatal	Associate	9005995
Anemia Sickle Cell	Associate	19650141, 9395185
Arthritis Rheumatoid	Associate	18952640
beta Thalassemia	Associate	9395185
Cognition Disorders	Associate	30656857
Elliptocytosis Hereditary	Associate	1498324, 27667160
Glomerulonephritis IGA	Associate	32113667
Heart Septal Defects Atrial	Associate	34182956
Histiocytosis with joint contractures and sensorineural deafness	Associate	33284430
HIV Infections	Associate	25009819
Hydrops Fetalis	Associate	33761640
Hyperbilirubinemia	Associate	34672909
Immune System Diseases	Associate	18323783
Neoplasms	Associate	19324871, 24289586
Nephrotic Syndrome	Associate	32113667
Premature Birth	Associate	29128634
Prostatic Neoplasms	Associate	24289586
Pyropoikilocytosis Hereditary	Associate	27667160
Spherocytosis Hereditary	Associate	29505016, 31122244, 31126250, 31602632, 32266426, 32436265, 33620149, 33761640, 33943044, 34182956, 34672909, 34681667, 35406697, 37385619, 38069343, 39521890, 40389840, 9450796, 9609518 View all (4 more)
Spherocytosis Type 1	Associate	21360829, 32113667, 33943044, 37306287
Spinocerebellar Ataxias	Associate	9609518
Thalassemia	Associate	11559936

SPTB (spectrin beta, erythrocytic)