Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPTBN1 Gene

protein-coding GIFtS: 65
GCID: GC02P054665

spectrin, beta, non-erythrocytic 1

Explore 18 diseases affiliated with
SPTBN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Spectrin, Beta, Non-Erythrocytic 1¹ ²		Beta-Spectrin 2²
Beta-II Spectrin² ³		Beta-Spectrin II²
Fodrin Beta Chain² ³		Beta-Spectrin Non-Erythrocytic 1²
Spectrin, Non-Erythroid Beta Chain 1² ³		BetaSpII¹
SPTB2² ³		Embryonic Liver Beta-Fodrin²
ELF²		Spectrin Beta Chain, Brain 1²
Beta-Fodrin¹		Spectrin Beta Chain, Non-Erythrocytic 1²
Beta-G Spectrin²

External Ids:	HGNC: 11275¹	Entrez Gene: 6711²	Ensembl: ENSG00000115306⁷	OMIM: 182790⁵	UniProtKB: Q01082³

Export aliases for SPTBN1 gene to outside databases

Previous GC identifers: GC02P054791 GC02P054939 GC02P054641 GC02P054658 GC02P054728 GC02P054596 GC02P054485

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPTBN1:

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin

cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and

organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one

member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17

spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have

been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SPTB2_HUMAN, Q01082

Function: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and

is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane

Gene Wiki entry for SPTBN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPTBN1 gene promoter:
HFH-3 TBP p53 AP-1 ATF-2 FAC1 FOXO4 HSF2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SPTBN1 promoter sequence

Search SABiosciences Chromatin IP Primers for SPTBN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTBN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21 Ensembl cytogenetic band: 2p16.2 HGNC cytogenetic band: 2p21

SPTBN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTBN1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P054665: view genomic region (about GC identifiers)

Start:	54,683,422 bp from pter	End:	54,898,583 bp from pter
Size:	215,162 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SPTB2_HUMAN, Q01082 (See protein sequence)

Recommended Name: Spectrin beta chain, non-erythrocytic 1

Size: 2364 amino acids; 274609 Da

Subunit: Like erythrocyte spectrin, the spectrin-like proteins are capable to form dimers which can further associate

to tetramers. The short form cannot bind to the axonal protein fodaxin. Interacts with ANK2

Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril, sarcomere, M line (By similarity).

Note=Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes (By similarity)

Subcellular location: Isoform 2: Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity)

Sequence caution: Sequence=BAD92985.1; Type=Erroneous initiation;

3 PDB 3D structures from and Proteopedia for SPTBN1:

1AA2 (3D)

1BKR (3D)

3EDV (3D)

Secondary accessions: B2RP63 O60837 Q16057 Q53R99 Q59ER3 Q8IX99

Alternative splicing: 3 isoforms: Q01082-1 Q01082-2 Q01082-3 (Contains a phosphoserine at position 8 (By similarity). Contains a phosphoserine at position 10. Contains a phosphoserine at position 14)

Explore the universe of human proteins at neXtProt for SPTBN1: NX_Q01082

Post-translational modifications:

Isoform 2 is phosphorylated on Ser-8 and Ser-10 (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q01082

SPTBN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_003119.2 NP_842565.2

ENSEMBL proteins:

ENSP00000349259 ENSP00000374630 ENSP00000334156

Reactome Protein details: Q01082
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: SPTBN1 OriGene Custom Protein Services for SPTBN1
	GenScript Custom Purified and Recombinant Proteins Services for SPTBN1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005730	nucleolus	IDA	9537418
GO:0005737	cytoplasm	IDA	9537418
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	--	--

SPTBN1 for ontologies About GeneDecksing

SPTBN1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies: SPTBN1 OriGene Custom Antibody Services for SPTBN1
	GenScript Custom Superior Antibodies Services for SPTBN1
	Novus Biologicals SPTBN1 Antibodies
	Abcam antibodies for SPTBN1
	Browse Antibodies at Uscn
	ThermoFisher Antibodies for SPTBN1

Assay Products for SPTBN1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SPTBN1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SPTBN1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR002017 Spectrin_repeat

IPR001715 CH-domain

IPR001849 Pleckstrin_homology

IPR016343 Spectrin_bsu

IPR001589 Actinin_actin-bd_CS

Graphical View of Domain Structure for InterPro Entry Q01082

ProtoNet protein and cluster: Q01082

5 Blocks protein families:

IPB001589 Actin-binding

IPB001605 Spectrin pleckstrin homology domain signature

IPB001715 Calponin-like actin-binding

IPB001849 Pleckstrin-like

IPB002017 Spectrin repeat

UniProtKB/Swiss-Prot: SPTB2_HUMAN, Q01082

Similarity: Belongs to the spectrin family

Similarity: Contains 2 CH (calponin-homology) domains

Similarity: Contains 1 PH domain

Similarity: Contains 17 spectrin repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SPTB2_HUMAN, Q01082

Function: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and

is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane

Genatlas biochemistry entry for SPTBN1:

spectrin,beta,non-erythrocytic 1,intermediate filament associated protein (IFAP,type III),beta-fodrin,mainly expressed

in brain

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SPTBN1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPTBN1
		8/129 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTBN1 (see all 129):
		hsa-miR-100* hsa-miR-520f hsa-miR-128 hsa-miR-3653 hsa-miR-4275 hsa-miR-298 hsa-miR-3622a-5p hsa-miR-548y

		SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SPTBN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPTBN1 (see all 7) OriGene shRNA RFP: SPTBN1 OriGene siRNA: SPTBN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTBN1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SPTBN1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SPTBN1 (NM_178313)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTBN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTBN1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SPTBN1
		Search LifeMap BioReagents cell lines for SPTBN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005200	structural constituent of cytoskeleton	IMP	17620337
GO:0005515	protein binding	IPI	17043677
GO:0005516	calmodulin binding	IEA	--
GO:0005543	phospholipid binding	IEA	--

SPTBN1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SPTBN1:

Decreased p24 protein expressi

Animal Models:
Mouse knock-out Sptbn1^tm1Mish for SPTBN1
15/18 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Sptbn1) (see all 18):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	homeostasis/metabolism	integument
liver/biliary system	mortality/aging	muscle	nervous system	renal/urinary system

SPTBN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Epithelial Tight Junctions

0.36

Regulation of Water Balance by Renal Aquaporins

Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

0.40

Cytoskeleton remodeling_Role of PKA in cytoskeleton reorganisation

0.40

Nephrin interactions

Nephrin interactions

1.00

Interaction between L1 and Ankyrins

Interaction between L1 and Ankyrins

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for SPTBN1

Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SPTBN1

	Sertoli-Sertoli Cell Junction Dynamics
	Apoptosis through Death Receptors
	Epithelial Tight Junctions

1 GeneGo (Thomson Reuters) Pathway for SPTBN1

Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

2 BioSystems Pathways for SPTBN1

	SIDS Susceptibility Pathways
	TGF-beta receptor signaling

5/7 Reactome Pathways for SPTBN1 (see all 7)

	L1CAM interactions
	Nephrin interactions
	Developmental Biology
	Interaction between L1 and Ankyrins
	NCAM signaling for neurite out-growth

SPTBN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SPTBN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/837 Interacting proteins for SPTBN1 (Q01082^{1, 2, 3} ENSP00000349259⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 837)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTR1A	P61163²^,³, ENSP00000358921⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000358921
EXOC2	Q96KP1²^,³	MINT-7945693 MINT-7947479 I2D: score=4
RINT1	Q6NUQ1²^,³, ENSP00000257700⁴	MINT-64662 I2D: score=4 STRING: ENSP00000257700
TSG101	Q99816²^,³	MINT-7945693 MINT-7947479 I2D: score=3
DISC1	Q9NRI5¹^,³, ENSP00000355596⁴	EBI-1642531,EBI-529989 I2D: score=2 STRING: ENSP00000355596

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000281	cytokinesis after mitosis	IMP	17620337
GO:0007009	plasma membrane organization	IMP	17620337
GO:0007182	common-partner SMAD protein phosphorylation	IEA	--
GO:0007184	SMAD protein import into nucleus	IEA	--
GO:0007411	axon guidance	TAS	--

SPTBN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SPTBN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SPTBN1

1 HMDB Compound for SPTBN1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

2 DrugBank Compounds for SPTBN1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
D-Myo-Inositol-1,4,5-Triphosphate	--	--	target	--	17139284 17016423 10592235
Calcium	--	--	target	agonist	1537825

3 Novoseek chemical compound relationships for SPTBN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
threonine	20.2	2	2144851 (1), 17088250 (1)
serine	17.7	3	2144851 (1), 18958736 (1), 15994232 (1)
calcium	0	4	8688828 (3)

Search CenterWatch for drugs/clinical trials and news about SPTBN1 / SPTB2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SPTBN1 gene (2 alternative transcripts):

NM_003128.2 NM_178313.2

Unigene Clusters for SPTBN1:

Spectrin, beta, non-erythrocytic 1

Hs.503178 [show with all ESTs], Hs.705692 [show with all ESTs]

Unigene Representative Sequences: NM_003128, AL542459

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000356805(uc002rxv.1 uc002rxu.3 uc010you.2) ENST00000389980

ENST00000333896(uc002rxx.3 uc002rxy.3) ENST00000496323 ENST00000467371

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SPTBN1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPTBN1
		8/129 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTBN1 (see all 129):
		hsa-miR-100* hsa-miR-520f hsa-miR-128 hsa-miR-3653 hsa-miR-4275 hsa-miR-298 hsa-miR-3622a-5p hsa-miR-548y

		SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SPTBN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPTBN1 (see all 7) OriGene shRNA RFP: SPTBN1 OriGene siRNA: SPTBN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTBN1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SPTBN1 (NM_178313)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTBN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTBN1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTBN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SPTBN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTBN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTBN1

Additional cDNA sequence: BC009640.2

24/46 DOTS entries (see all 46):

DT.450115 DT.91895659 DT.91801577 DT.100681496 DT.91770342 DT.75144965 DT.91941204 DT.95341987

DT.443161 DT.99944145 DT.97795552 DT.95115328 DT.100681495 DT.100044878 DT.98082893 DT.100681493

DT.95309533 DT.95115339 DT.100044880 DT.91752153 DT.120957538 DT.91955991 DT.95231535 DT.100681486

24/915 AceView cDNA sequences (see all 915):

AI123884 AI002045 AL699171 BM824746 AA149901 AI023927 AA292210 AW085775

BM663653 CD517359 AI150684 AA328690 BF933647 BQ877289 BQ878544 AA494385

CD518387 W60295 AW368180 BQ684451 BF726185 CA405929 AK025071 AF327441

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN1 (see all 6) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:					-
SP2:
SP3:
SP4:
SP5:

ExUns:	27	^	28a	·	28b	^	29	^	30	^	31	^	32a	·	32b	^	33a	·	33b	^	34	^	35a	·	35b	^	36a	·	36b	^	37	^	38	^	39a	·	39b
SP1:			-																-		-		-		-
SP2:			-
SP3:
SP4:
SP5:																			-				-		-

ECgene alternative splicing isoforms for SPTBN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPTBN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGGCTTTTCT

About this image

SPTBN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Reproductive System

Early Gonad

Testis Somatic Cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SPTBN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPTBN1

SOURCE GeneReport for Unigene clusters: Hs.503178 Hs.705692

UniProtKB/Swiss-Prot: SPTB2_HUMAN, Q01082

Tissue specificity: Isoform 2 is present in brain, lung and kidney (at protein level)

SABiosciences Custom PCR Arrays for SPTBN1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTBN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SPTBN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTBN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTBN1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SPTBN1 gene from 6/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SPTBN1¹	spectrin, beta, non-erythrocytic 1	83.45(n) 96.02(a)		421216 NM_001199425.1 NP_001186354.1
lizard (Anolis carolinensis)	Reptilia	SPTBN1⁶	--	95(a)	1 ↔ 1	1(263554541-263648878)
African clawed frog (Xenopus laevis)	Amphibia	LOC398511²	similar to spectrin, beta, non-erythrocytic 1	74.2(n)		BC046267.1
zebrafish (Danio rerio)	Actinopterygii	sptb²	spectrin, beta, erythrocytic	74.11(n)		58040 AF262336.1
fruit fly (Drosophila melanogaster)	Insecta	&bgr;-Spec³ beta-Spec¹	neuromuscular synaptic transmission actin binding³ beta Spectrin¹	58(a) (best of 2)³ 60.98(n)¹ 57.26(a)¹		32746¹ NM_078664.2¹ NP_523388.1¹
worm (Caenorhabditis elegans)	Secernentea	unc-70^{1 , 3}	spectrin beta chain³ Protein UNC-70¹	54(a) (best of 2)³ 55.38(n)¹ 53.18(a)¹		V(6883990-6892937)³ 179077¹ NM_001028882.1¹ NP_001024053.1¹

ENSEMBL Gene Tree for SPTBN1 (if available)
TreeFam Gene Tree for SPTBN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SPTBN1 gene

ACTN4² SPTBN2² SPTA1² SYNE2² SPTBN4² SPTB² SPTBN5² ACTN2²

SPTAN1² ACTN1² SYNE1² CLMN²

18/20 SIMAP similar genes for SPTBN1 using alignment to 8 protein entries: SPTB2_HUMAN (see all proteins) (see all similar genes):

HSpTB1 SPTBN2 SPTB DKFZp434J0328 SPTBN3 UTRN

DMD ACF7 MACF1 SPTBN4 SPNB4 MLL-ACTN4

ACTN3 DST ACTN2 ACTN4 ACTN1 SYNE2

SPTBN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75900188^1,2	C	--	54681481(+)	`GCTAAG/TGTGTG`	1	--	us2k¹		0	--	--	--	--
rs113935743^1,2		--	54681711(+)	`GAGGTG/CCTGGG`	1	--	us2k¹		1		CSA	2
rs75432070^1,2	F,	--	54681722(+)	`GTCCAT/CGGTAA`	1	--	us2k¹		2		WA EA	238
rs143518012^1,2		--	54681768(+)	`TCTAGG/TGGATT`	1	--	us2k¹		0	--	--	--	--
rs111892277^1,2		--	54681830(+)	`CAACAT/AATTTG`	1	--	us2k¹		1		CSA	2
rs141603418^1,2		--	54681909(+)	`TACGGC/TCTGGT`	1	--	us2k¹		0	--	--	--	--
rs150093348^1,2		--	54681933(+)	`CTTCTC/GAGAAA`	1	--	us2k¹		0	--	--	--	--
rs183066023^1,2		--	54682203(+)	`AGGTCC/TGTATG`	1	--	us2k¹		0	--	--	--	--
rs138626112^1,2		--	54682222(+)	`GCCCTC/GGGGCT`	1	--	us2k¹		0	--	--	--	--
rs142929253^1,2		--	54682237(+)	`CAAACA/CGGAAG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SPTBN1 (54683422 - 54898583 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for SPTBN1
8 CNVs: 7276 97859 1579 78550 78549 78551 89661 9412
4 Indels: 41754 46019 12075 26708

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTBN1

DNA2.0 Custom Variant and Variant Library Synthesis for SPTBN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SPTBN1 for disorders           About GeneDecksing

OMIM gene information: 182790    OMIM disorders: --

18 diseases for SPTBN1:    About MalaCards

fissured tongue supravalvular aortic stenosis williams-beuren syndrome dengue hemorrhagic fever

hemorrhagic fever beta thalassemia buphthalmos myeloproliferative disorder

thalassemia neurofibromatosis sjogren's syndrome osteoporosis

hepatocellular cancer meningioma myeloma schizophrenia

pancreatitis neuronitis

1 disease from the University of Copenhagen DISEASES database for SPTBN1:

Williams-Beuren syndrome

1 Novoseek disease relationship for SPTBN1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neurofibromatosis type 2	72.1	2	9537418 (1), 11665863 (1)

Human Genome Epidemiology (HuGE) Navigator: SPTBN1 (7 documents)

Export disorders for SPTBN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SPTBN1 gene, integrated from 9 sources (see all 119):
(articles sorted by number of sources associating them with SPTBN1)

Utopia: connect your pdf to the dynamic
world of online information

Identification of a novel C-terminal variant of betaII spectrin: two isoforms of betaII spectrin have distinct intracellular locations and activities. (PubMed id 10806113)^{1, 2, 9} Hayes N.V.L.... Baines A.J. (2000)
Cloning of a portion of the chromosomal gene and cDNA for human beta- fodrin, the nonerythroid form of beta-spectrin. (PubMed id 8406479)^{1, 2, 9} Chang J.G.... Forget B.G. (1993)
A novel isoform of beta-spectrin II localizes to cerebellar Purkinje- cell bodies and interacts with neurofibromatosis type 2 gene product schwannomin. (PubMed id 11665863)^{1, 2, 9} Chen Y.... Cai T. (2001)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes. (PubMed id 15262991)^{1, 2} Mohler P.J.... Bennett V. (2004)
Structural comparisons of calponin homology domains: implications for actin binding. (PubMed id 9817844)^{1, 2} Banuelos S.... Carugo K.D. (1998)
Crystal structure of a calponin homology domain. (PubMed id 9164454)^{1, 2} Carugo K.D.... Saraste M. (1997)
Characterization of human brain cDNA encoding the general isoform of beta-spectrin. (PubMed id 1527002)^{1, 2} Hu R.J.... Bennett V. (1992)
Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. (PubMed id 9537418)^{1, 9} Scoles D.R....Pulst S.M. (1998)
Phosphorylation of a threonine unique to the short C-terminal isoform of betaII-spectrin links regulation of alpha-beta spectrin interaction to neuritogenesis. (PubMed id 17088250)^{1, 9} Bignone P.A....Baines A.J. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6711	HGNC: 11275	AceView: SPTBN1	Ensembl:ENSG00000115306	euGenes: HUgn6711
ECgene: SPTBN1	H-InvDB: SPTBN1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SPTBN1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPTBN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SPTBN1 gene:
Search GeneIP for patents involving SPTBN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for SPTBN1		OriGene shRNA RFP for SPTBN1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPTBN1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTBN1
	OriGene Protein Over-expression Lysate for SPTBN1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for SPTBN1		OriGene 3'-UTR Clone for SPTBN1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for SPTBN1		OriGene Custom Protein Services for SPTBN1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPTBN1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTBN1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTBN1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTBN1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTBN1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTBN1

	GenScript Custom Purified and Recombinant Proteins Services for SPTBN1		GenScript cDNA clones with any tag delivered in your preferred vector for SPTBN1
	GenScript Custom Assay Services for SPTBN1		GenScript Custom Superior Antibodies Services for SPTBN1
	GenScript Custom overexpressing Cell Line Services for SPTBN1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in SPTBN1 promoter
	Search Chromatin IP Primers for SPTBN1
	RT² qPCR Primer Assay in human, mouse, rat SPTBN1
	GNC Network for SPTBN1
	SABiosciences PCR Arrays including human, mouse, rat SPTBN1

Search Tocris compounds for SPTBN1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	SPTBN1 antibodies

	Antibodies for SPTBN1
	See all of Abcam's Antibodies, Kits and Proteins for SPTBN1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn

Search LifeMap BioReagents cell lines for SPTBN1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN1

	SwitchGear 3'UTR luciferase reporter plasmids for SPTBN1
	SwitchGear Promoter luciferase reporter plasmids for SPTBN1

ThermoFisher Antibodies for SPTBN1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTBN1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes SPTBN1 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

SPTBN1 Gene

spectrin, beta, non-erythrocytic 1

Aliases
for SPTBN1 gene

Summaries
for SPTBN1 gene

Genomic Views
for SPTBN1 gene

Proteins
for SPTBN1 gene

Protein Domains /
Families
for SPTBN1 gene

Function
for SPTBN1 gene

Pathways & Interactions
for SPTBN1 gene

Drugs & Compounds
for SPTBN1 gene

Transcripts
for SPTBN1 gene

Expression
for SPTBN1 gene

Orthologs
for SPTBN1 gene

Paralogs
for SPTBN1 gene

Genomic Variants
for SPTBN1 gene

Disorders / Diseases
for SPTBN1 gene

Publications
for SPTBN1 gene

External Searches for SPTBN1 gene

Genome Databases showing SPTBN1 gene

Other Databases showing SPTBN1 gene

Specialized Databases showing SPTBN1 gene

Intellectual Property
for SPTBN1 gene

Products
for SPTBN1 gene

View Random Gene

Advanced Search

Export list of displayed genes

SPTBN1 Gene

spectrin, beta, non-erythrocytic 1

Aliasesfor SPTBN1 gene

Summariesfor SPTBN1 gene

Genomic Viewsfor SPTBN1 gene

Proteinsfor SPTBN1 gene

Protein Domains /Familiesfor SPTBN1 gene

Functionfor SPTBN1 gene

Pathways & Interactionsfor SPTBN1 gene

Drugs & Compoundsfor SPTBN1 gene

Transcriptsfor SPTBN1 gene

Expression for SPTBN1 gene

Orthologsfor SPTBN1 gene

Paralogsfor SPTBN1 gene

Genomic Variantsfor SPTBN1 gene

Disorders / Diseasesfor SPTBN1 gene

Publicationsfor SPTBN1 gene

External Searches for SPTBN1 gene

Genome Databases showing SPTBN1 gene

Other Databases showing SPTBN1 gene

Specialized Databases showing SPTBN1 gene

Intellectual Propertyfor SPTBN1 gene

Productsfor SPTBN1 gene

View Random Gene

Aliases
for SPTBN1 gene

Summaries
for SPTBN1 gene

Genomic Views
for SPTBN1 gene

Proteins
for SPTBN1 gene

Protein Domains /
Families
for SPTBN1 gene

Function
for SPTBN1 gene

Pathways & Interactions
for SPTBN1 gene

Drugs & Compounds
for SPTBN1 gene

Transcripts
for SPTBN1 gene

Expression
for SPTBN1 gene

Orthologs
for SPTBN1 gene

Paralogs
for SPTBN1 gene

Genomic Variants
for SPTBN1 gene

Disorders / Diseases
for SPTBN1 gene

Publications
for SPTBN1 gene

Intellectual Property
for SPTBN1 gene

Products
for SPTBN1 gene