SPATA5 (spermatogenesis associated 5)

2014-11-01 Affiliation

Identity

HGNC

SPATA5

LOCATION

4q28.1

LOCUSID

166378

ALIAS

AFG2,EHLMRS,SPAF

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 166378
MIM: 613940
HGNC: 18119
Ensembl: ENSG00000145375

Variants:

dbSNP: 166378
ClinVar: 166378
TCGA: ENSG00000145375
COSMIC: SPATA5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000145375	ENST00000274008	Q8NB90

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Ribosome biogenesis in eukaryotes	KEGG	ko03008
Ribosome biogenesis in eukaryotes	KEGG	hsa03008

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA450761	paclitaxel	Chemical	MultilinkAnnotation	associated			24444404

References

Pubmed ID	Year	Title	Citations
35354024	2022	Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly.	13
35354024	2022	Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly.	13
33017352	2021	A Genome-wide Association Study for Concussion Risk.	4
33017352	2021	A Genome-wide Association Study for Concussion Risk.	4
31838782	2020	Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility.	20
31838782	2020	Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility.	20
28293831	2017	Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.	6
28293831	2017	Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.	6
27246907	2016	Characterization of SPATA5-related encephalopathy in early childhood.	13
27246907	2016	Characterization of SPATA5-related encephalopathy in early childhood.	13
26299366	2015	Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.	89
26299366	2015	Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.	89
22027810	2012	Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.	23
22027810	2012	Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.	23
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78

Citation

Dessen P

SPATA5 (spermatogenesis associated 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74142/spata5-(spermatogenesis-associated-5)