SPTBN1 - spectrin beta, non-erythrocytic 1 Gene

Homo sapiens

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

Gene ID: 6711 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13732	SPTBN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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