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SPTBN4 - spectrin beta, non-erythrocytic 4 Gene

Also Known as QV; CMND; SPNB4; NEDHND; SPTBN3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57731

About SPTBN4

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,467,001-40,576,464 (from NCBI)

This gene has 12 transcripts (splice variants), 274 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 4.1), testis (RPKM 0.9) and 9 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 localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SPTBN4 Products (2)

mRNA	Protein	Name
NM_020971.3	NP_066022.2	spectrin beta chain, non-erythrocytic 4 isoform sigma1
NM_025213.3	NP_079489.2	spectrin beta chain, non-erythrocytic 4 isoform sigma5

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ankyrin binding	IDA IDA: Inferred from direct assay	11294830	GOA
enables phosphatase binding	IPI IPI: Inferred from physical interaction	11086001	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11086001	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in PML body	IDA IDA: Inferred from direct assay	11294830	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11294830	GOA
located in membrane	IDA IDA: Inferred from direct assay	11086001	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	11294830	GOA
part of spectrin	IDA IDA: Inferred from direct assay	11086001	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

SPTBN4 Protein Structure

Spectrin

PH_9

0
400
800
1200
1600
2000
2400
2564 a.a.

Protein Preferred Names	Protein Names
spectrin beta chain, non-erythrocytic 4	beta-IV spectrin

SPTBN4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPTBN4	Q9H254	DISC1	Homo sapiens	Q9NRI5	Anti Tag CoIP	12812986
Intra	SPTBN4	Q9H254	DISC1	Homo sapiens	Q9NRI5	Y2H	12812986

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	NEDHND Myopathy, Congenital, With Neuropathy And Deafness Cmnd
Spinocerebellar Ataxia 5	Spinocerebellar Ataxia Type 5 SCA5 Spinocerebellar Ataxia-5 Ataxia, Spinocerebellar, Type 5
Developmental And Epileptic Encephalopathy 5	Epileptic Encephalopathy, Early Infantile, 5 DEE5 Eiee5 Developmental And Epileptic Encephalopathy, 5 Early Infantile Epileptic Encephalopathy 5 Encephalopathy, Epileptic, Early Infantile, Type 5
Spinocerebellar Ataxia, Autosomal Recessive 8	Arca1 Autosomal Recessive Cerebellar Ataxia Type 1 SCAR8 Autosomal Recessive Spinocerebellar Ataxia 8 Autosomal Recessive Ataxia, Beauce Type Recessive Ataxia Of Beauce Syne1-Related Autosomal Recessive Cerebellar Ataxia Ataxia, Recessive, Of Beauce Cerebellar Ataxia, Autosomal Recessive, Type 1 Spinocerebellar Ataxia Autosomal Recessive 8 Autosomal Recessive Ataxia Beauce Type Spinocerebellar Ataxia, Autosomal Recessive, 8 Ataxia Recessive Of Beauce Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
Hypotonia
Myopathy	Muscular Diseases Myopathies
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
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
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13734	SPTBN4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SPTBN4	VGNC	VGNC:65661
Bos taurus	SPTBN4	VGNC	VGNC:35254
Mus musculus	SPTBN4	MGD	MGI:1890574
Canis familiaris	SPTBN4	VGNC	VGNC:46777
Rattus norvegicus	SPTBN4	RGD	RGD:1304682
Others	SPTBN4	NCBI