SPTBN5 - spectrin beta, non-erythrocytic 5 Gene

Homo sapiens

Also known as BSPECV; HUSPECV; HUBSPECV

Gene ID: 51332 | Gene type: protein coding

About SPTBN5

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:41,848,146-41,894,053 (from NCBI)

This gene has 2 transcripts (splice variants), 133 orthologues and 36 paralogues. Low expression observed in reference dataset.

Summary

Enables several functions, including cytoskeletal protein binding activity; dynein intermediate chain binding activity; and identical protein binding activity. Acts upstream of or within Golgi organization and lysosomal transport. Located in cytoplasm; photoreceptor connecting cilium; and photoreceptor disc membrane. [provided by Alliance of Genome Resources, Apr 2022]

SPTBN5 Products(1)

mRNA	Protein	Name
NM_016642.4	NP_057726.4	spectrin beta chain, non-erythrocytic 5

SPTBN5 Protein Structure

Spectrin

0
600
1200
1800
2400
3000
3674 a.a.

Protein Preferred Names

Protein Names

spectrin beta chain, non-erythrocytic 5

beta V spectrin

Related Diseases

Diseases

Alias

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 5

Spinocerebellar Ataxia Type 5	SCA5
Spinocerebellar Ataxia-5	Ataxia, Spinocerebellar, Type 5

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

Retinitis Pigmentosa 12

RP12	Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium
Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium	Rp With Or Without Pprpe
Retinitis Pigmentosa-12

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-RS13735	SPTBN5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SPTBN5	VGNC	VGNC:77927
Bos taurus	SPTBN5	VGNC	VGNC:35255
Felis catus	SPTBN5	VGNC	VGNC:65662
Rattus norvegicus	SPTBN5	RGD	RGD:1311047
Canis familiaris	SPTBN5	VGNC	VGNC:46778
Mus musculus	SPTBN5	MGD	MGI:2685200

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