SPATC1L (spermatogenesis and centriole associated 1 like)

2014-11-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
C21orf56
FUSION GENES

Other Information

Locus ID:

NCBI: 84221
MIM: 612412
HGNC: 1298
Ensembl: ENSG00000160284

Variants:

dbSNP: 84221
ClinVar: 84221
TCGA: ENSG00000160284
COSMIC: SPATC1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160284ENST00000291672Q9H0A9
ENSG00000160284ENST00000330205Q9H0A9

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
301777752019Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.2
283390092017Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.1
288492232017Identification of TNFSF13, SPATC1L, SLC22A25 and SALL4 as novel susceptibility loci for atrial fibrillation by an exome‑wide association study.1
300263082018SPATC1L maintains the integrity of the sperm head-tail junction.1

Citation

Dessen P

SPATC1L (spermatogenesis and centriole associated 1 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74149/spatc1l