Sptbn1
Gene Detail

Symbol

Name
ID

Sptbn1
spectrin beta, non-erythrocytic 1
MGI:98388

Synonyms

9930031C03Rik, beta fodrin, brain spectrin, elf1, elf3, non-erythrocytic, spectrin G, Spnb2, Spnb-2

Feature Type

protein coding gene

Genetic Map

Chromosome 11
17.44 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)

Sequence Map

Chr11:30099395-30268175 bp, - strand From VEGA annotation of GRCm38   168781 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

HomoloGene:2354  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: spectrin, beta subunit
Gene Tree: Sptbn1

Human
homologs

Human Homolog		SPTBN1, spectrin, beta, non-erythrocytic 1
NCBI Gene ID		6711
neXtProt AC		NX_Q01082
Human Synonyms		betaSpII, ELF, HEL102, SPTB2
Human Chr (Location)		2p21; chr2:54456317-54671446 (+)  GRCh38

Mutations,
alleles, and
phenotypes

All mutations/alleles(45) : Gene trapped(41) Targeted(4)
Incidental mutations (data from APF )
 

Homozygotes for a targeted null mutation exhibit gastrointestinal, hepatic, neural, and cardiac defects. Mutants die around midgestation.

 
Human Diseases Modeled in Mice Using Sptbn1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)

Interactions

Sptbn1 interacts with 401 markers (Mir1a-1, Mir1a-2, Mir1b, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (36 annotations)

Process	actin filament capping, common-partner SMAD protein phosphorylation, ...
Component	axolemma, cell, ...
Function	actin binding, ankyrin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (13 records)

Data Summary: Results (27)    Tissues (14)    Images (6)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	14
Northern blot	11
RT-PCR	2

cDNA source data(31)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(37) cDNA(34) Primer pair(2) Other(1)
Microarray probesets(9)

Other database
links

VEGA Gene Model	OTTMUSG00000005341 (Evidence)
Ensembl Gene Model	ENSMUSG00000020315 (Evidence)
Entrez Gene	20742 (Evidence)
DFCI	TC1573397, TC1579767, TC1598681, TC1617942, TC1638760, TC1639305, TC1640397
DoTS	DT.101404450, DT.101739206, DT.110508058, DT.522801, DT.525132, DT.55101064, DT.91367099, DT.91482135, DT.94370473, DT.97357486
NIA Mouse Gene Index	U032609
PDB	1BTN, 1MPH
Consensus CDS Project	CCDS24506.1, CCDS36123.1
International Mouse Knockout Project Status	Sptbn1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005341	VEGA Gene Model | MGI Sequence Detail	168781	C57BL/6J
transcript	OTTMUST00000011917	VEGA | MGI Sequence Detail	8461	Not Applicable
polypeptide	OTTMUSP00000005519	VEGA | MGI Sequence Detail	2363	Not Applicable

All sequences(98) RefSeq(11) UniProt(10)

Polymorphisms

RFLP(5) : SNPs within 2kb(1627 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
InterPro	IPR001589	Actinin-type, actin-binding, conserved site
InterPro	IPR001715	Calponin homology domain
InterPro	IPR001849	Pleckstrin homology domain
InterPro	IPR001605	Pleckstrin homology domain, spectrin-type
InterPro	IPR011993	Pleckstrin homology-like domain
InterPro	IPR018159	Spectrin/alpha-actinin
InterPro	IPR016343	Spectrin, beta subunit
InterPro	IPR002017	Spectrin repeat
Protein Ontology	PR:000003166	spectrin beta chain, non-erythrocytic 1

References

(Earliest) J:32042 Birkenmeier CS, et al., Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin. Proc Natl Acad Sci U S A. 1985 Sep;82(17):5671-5
(Latest) J:208194 Zhang C, et al., Membrane domain organization of myelinated axons requires betaII spectrin. J Cell Biol. 2013 Nov 11;203(3):437-43
All references(87)
Disease annotation references (1)

Other
accession IDs

MGD-MRK-14540, MGD-MRK-14542, MGI:2144359, MGI:2444922