SPATA5 - spermatogenesis associated 5 Gene

Homo sapiens

Also known as AFG2; SPAF; EHLMRS; NEDHSB

Gene ID: 166378 | Gene type: protein coding

About SPATA5

Cytogenetic location: 4q28.1 Genomic coordinates (GRCh38): 4:122,923,078-123,319,433 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues, 5 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

SPATA5 Products(3)

mRNA	Protein	Name
NM_001317799.2	NP_001304728.1	ribosome biogenesis protein SPATA5 isoform 2
NM_001345856.2	NP_001332785.1	ribosome biogenesis protein SPATA5 isoform 3
NM_145207.3	NP_660208.2	ribosome biogenesis protein SPATA5 isoform 1

SPATA5 Protein Structure

AAA

0
200
400
600
800
893 a.a.

Protein Preferred Names

Protein Names

ribosome biogenesis protein SPATA5

ATPase family protein 2 homolog

ATPase family gene 2 homolog

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities

Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	NEDHSB
Epilepsy, Hearing Loss, And Mental Retardation Syndrome	Ehlmrs
Microcephaly-Intellectual Disability-Sensorineural Deafness-Epilepsy-Abnormal Muscle Tone Syndrome

Kwashiorkor

Kwashiokor	Nutritional Edema With Dyspigmentation Of Skin And Hair
Nutritional Oedema With Dyspigmentation Of Skin And/Or Hair

Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5	Mddga5
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Estrogen Excess

Hyperestrogenism

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13641	SPATA5 Human Pre-designed siRNA Set A		/	Unkown
HY-RS13642	SPATA5L1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SPATA5	VGNC	VGNC:77952
Rattus norvegicus	SPATA5	RGD	RGD:1310478
Bos taurus	SPATA5	VGNC	VGNC:35187
Canis familiaris	SPATA5	VGNC	VGNC:54364
Felis catus	SPATA5	VGNC	VGNC:65615
Mus musculus	SPATA5	MGD	MGI:1927170

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