Homo sapiens Gene: SPTB
Summary
InnateDB Gene IDBG-9231.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTB
Gene Name spectrin, beta, erythrocytic
Synonyms EL3; HS2; HSPTB1; SPH2;
Species Homo sapiens
Ensembl Gene ENSG00000070182
Encoded Proteins
spectrin, beta, erythrocytic
spectrin, beta, erythrocytic
spectrin, beta, erythrocytic
spectrin, beta, erythrocytic
spectrin, beta, erythrocytic
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:64746283-64879883
Strand Reverse strand
Band q23.3
Transcripts
ENST00000342835
ENST00000389722 ENSP00000374372
ENST00000389720 ENSP00000374370
ENST00000389721 ENSP00000374371
ENST00000553938 ENSP00000451324
ENST00000556227
ENST00000556626 ENSP00000451752
ENST00000542694
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0030506 ankyrin binding
GO:0046982 protein heterodimerization activity
GO:0051015 actin filament binding
Biological Process
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0007009 plasma membrane organization
GO:0007411 axon guidance
GO:0030097 hemopoiesis
GO:0051693 actin filament capping
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0008091 spectrin
GO:0009986 cell surface
GO:0014731 spectrin-associated cytoskeleton
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0030863 cortical cytoskeleton
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Interaction between L1 and Ankyrins pathway
NCAM signaling for neurite out-growth pathway
Axon guidance pathway
L1CAM interactions pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P11277
TrEMBL H0YJE6 O14725 O14726 Q59FP5 Q71VF8 Q71VF9 Q71VG0 Q71VG1 Q71VG2
UniProt Splice Variant
Entrez Gene 6710
UniGene Hs.417303
RefSeq NM_000347 NM_001024858 XM_005268023 XM_006720241
HUGO HGNC:11274
OMIM 182870
CCDS CCDS32099 CCDS32100
HPRD
IMGT
EMBL AB209415 AF013172 AF013173 AF013174 AF013178 AF013179 AF013180 AF013181 AF013182 AF013183 AF013184 AF013185 AF013186 AF013187 AL121774 AL135745 J05500 M18054 M37884 M37885 M57948 X59510 X59511
GenPept AAA60571 AAA60572 AAA60578 AAA60579 AAA63259 AAC02786 AAC02787 AAC02788 AAC02790 AAC02791 AAC02792 AAC02793 BAD92652 CAA42097 CAA42098
RNA Seq Atlas 6710