ACTL9 (actin like 9)

2014-11-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
HSD21,SPGF53

Other Information

Locus ID:

NCBI: 284382
HGNC: 28494
Ensembl: ENSG00000181786

Variants:

dbSNP: 284382
ClinVar: 284382
TCGA: ENSG00000181786
COSMIC: ACTL9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181786ENST00000324436Q8TC94
ENSG00000181786ENST00000612068Q8TC94

Expression (GTEx)

0
50
100
150
200
250
300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387698992024Identification of a new mutation in the ACTL9 gene in men with unexplained infertility.1
387698992024Identification of a new mutation in the ACTL9 gene in men with unexplained infertility.1
336263382021Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.20
336263382021Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.20
261270032015Correlation of KIF3A and OVOL1, but not ACTL9, with atopic dermatitis in Chinese pediatric patients.6
261270032015Correlation of KIF3A and OVOL1, but not ACTL9, with atopic dermatitis in Chinese pediatric patients.6
232788452013Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients.12
232788452013Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients.12

Citation

Dessen P

ACTL9 (actin like 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60118/actl9-(actin-like-9)