SPAG17 (sperm associated antigen 17)

2014-11-01 Affiliation

Identity

HGNC

SPAG17

LOCATION

1p12

LOCUSID

200162

ALIAS

CT143,PF6

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: 200162
MIM: 616554
HGNC: 26620
Ensembl: ENSG00000155761

Variants:

dbSNP: 200162
ClinVar: 200162
TCGA: ENSG00000155761
COSMIC: SPAG17

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000155761	ENST00000336338	Q6Q759
ENSG00000155761	ENST00000437255	Q5TDG6

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35762854	2023	Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA-Sequencing Analysis in Patients With Systemic Sclerosis.	3
36116512	2023	Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis.	4
35762854	2023	Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA-Sequencing Analysis in Patients With Systemic Sclerosis.	3
36116512	2023	Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis.	4
28548327	2018	A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.	21
29174089	2018	Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.	6
28548327	2018	A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.	21
29174089	2018	Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.	6
19893584	2010	Identification of 15 loci influencing height in a Korean population.	58
20546612	2010	The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.	28
20846217	2010	Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.	10
19893584	2010	Identification of 15 loci influencing height in a Korean population.	58
20546612	2010	The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.	28
20846217	2010	Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.	10
19266077	2009	Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.	62

Citation

Dessen P

SPAG17 (sperm associated antigen 17)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74103/spag17-(sperm-associated-antigen-17)