SPATA5 - spermatogenesis associated 5 Gene

Also Known as AFG2; SPAF; EHLMRS; NEDHSB

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 166378

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables preribosome binding IDA
IDA: Inferred from direct assay
35354024 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
35354024 GOA
Biological Process GO Annotation Evidence References Source
involved in brain development IMP
IMP: Inferred from mutant phenotype
26299366 GOA
involved in ribosomal large subunit biogenesis IDA
IDA: Inferred from direct assay
35354024 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
18445686 GOA
located in spindle IDA
IDA: Inferred from direct assay
18445686 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

SPATA5 Protein Structure

AAA

AAA: ATPase family associated with various cellular activities (AAA) (390 - 522)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (664 - 796)

  • 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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13641 SPATA5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS13642 SPATA5L1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others SPATA5 NCBI