SPTBN1 - spectrin beta, non-erythrocytic 1 Gene

Also Known as ELF; SPTB2; DDISBA; HEL102; betaSpII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6711

About SPTBN1

Cytogenetic location: 2p16.2 Genomic coordinates (GRCh38): 2:54,456,327-54,671,446 (from NCBI)

This gene has 7 transcripts (splice variants), 308 orthologues, 36 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 102.5), lung (RPKM 72.2) and 24 other tissues.

Summary

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]

SPTBN1 Products (2)

mRNA	Protein	Name
NM_003128.3	NP_003119.2	spectrin beta chain, non-erythrocytic 1 isoform 1
NM_178313.3	NP_842565.2	spectrin beta chain, non-erythrocytic 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase binding	IPI IPI: Inferred from physical interaction	24337748	GOA
enables ankyrin binding	IPI IPI: Inferred from physical interaction	15262991	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9537418	GOA
enables structural constituent of cytoskeleton	IMP IMP: Inferred from mutant phenotype	17620337	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi to plasma membrane protein transport	IMP IMP: Inferred from mutant phenotype	17620337	GOA
involved in actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	34211179	GOA
involved in central nervous system development	IMP IMP: Inferred from mutant phenotype	34211179	GOA
involved in central nervous system formation	IMP IMP: Inferred from mutant phenotype	34211179	GOA
involved in membrane assembly	IMP IMP: Inferred from mutant phenotype	17620337	GOA
involved in mitotic cytokinesis	IMP IMP: Inferred from mutant phenotype	17620337	GOA
involved in plasma membrane organization	IMP IMP: Inferred from mutant phenotype	17620337	GOA
involved in positive regulation of interleukin-2 production	IMP IMP: Inferred from mutant phenotype	24337748	GOA
involved in positive regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	24337748	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	17620337	GOA
involved in regulation of protein localization to plasma membrane	IGI IGI: Inferred from genetic interaction	24337748	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	9537418	GOA
located in cytosol	IDA IDA: Inferred from direct assay	34211179	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	9537418	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	34211179	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPTBN1 Protein Structure

Spectrin

PH_9

0
400
800
1200
1600
2000
2364 a.a.

Protein Preferred Names	Protein Names
spectrin beta chain, non-erythrocytic 1	beta-G spectrin

SPTBN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPTBN1	Q01082	NF2	Homo sapiens	P35240-3	Pull Down	9537418
Intra	SPTBN1	Q01082	NF2	Homo sapiens	P35240-3	Y2H	11779178
Intra	SPTBN1	Q01082	SPTAN1	Homo sapiens	Q13813	SPR	12820899
Intra	SPTBN1	Q01082	SPTAN1	Homo sapiens	Q13813	Crosslink	30021884
Intra	SPTBN1	Q01082	CDC5L	Homo sapiens	Q99459	Y2H	17043677
Intra	SPTBN1	Q01082	SPTA1	Homo sapiens	P02549	SPR	12820899
Intra	SPTBN1	Q01082	DISC1	Homo sapiens	Q9NRI5	Y2H	17043677

Cross: Cross-species interaction Intra: Intraspecies interaction

SPTBN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86416	SPTBN1 Antibody (YA6108)	WB, IHC-P, ICC/IF, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	DDISBA
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Rare Pervasive Developmental Disorder	Rare Asd Rare Pdd Rare Autism Spectrum Disorder
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Glycosylphosphatidylinositol Biosynthesis Defect 13 Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures Gpibd13 NEDHCAS Glycosylphosphatidylinositol Biosynthesis Defect 22 Gpibd22 NEDHSCA Intellectual Developmental Disorder, Autosomal Recessive 53, Formerly Mrt53, Formerly Mental Retardation, Autosomal Recessive 53, Formerly Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome Congenital Disorder Of Glycosylation Due To Pigg Deficiency Pigg-Cdg Intellectual Developmental Disorder, Autosomal Recessive 53 MRT53
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Acoustic Neuroma	Neurofibromatosis Type 2 Vestibular Schwannoma Acoustic Neurinoma Bilateral Acoustic Neurofibromatosis Nf2 Acoustic Neurilemoma Cerebellopontine Angle Tumor Neurofibromatosis Central Type Neurofibromatosis Type Ii Vestibular Neurilemmoma Acoustic Tumor Neurinoma Of The Acoustic Nerve Acoustic Neurinoma Bilateral Acoustic Schwannomas Bilateral Banf Central Neurofibromatosis Familial Acoustic Neuromas Neurofibromatosis 2 Neurofibromatosis Type 2 Merlin Schwannoma, Acoustic, Bilateral Neuroma Acoustic Neuroma, Acoustic Familial Acoustic Neuroma Familial Vestibular Schwannoma Neurofibromatosis, Central Type Nf2 - [Neurofibromatosis Type 2]
Occipital Lobe Neoplasm	Neoplasm Of Occipital Lobe Malignant Neoplasm Of Occipital Lobe Tumor Of Occipital Lobe
Spinocerebellar Ataxia 5	Spinocerebellar Ataxia Type 5 SCA5 Spinocerebellar Ataxia-5 Ataxia, Spinocerebellar, Type 5
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13732	SPTBN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19817	Sptbn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26313	Sptbn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SPTBN1	VGNC	VGNC:65659
Rattus norvegicus	SPTBN1	RGD	RGD:727922
Macaca mulatta	SPTBN1	VGNC	VGNC:77871
Canis familiaris	SPTBN1	VGNC	VGNC:46775
Bos taurus	SPTBN1	VGNC	VGNC:35253
Mus musculus	SPTBN1	MGD	MGI:98388
Others	SPTBN1	NCBI