FAM161A (FAM161 centrosomal protein A)

2014-08-01  

Identity

HGNC
LOCATION
2p15
LOCUSID
ALIAS
RP28
FUSION GENES

Other Information

Locus ID:

NCBI: 84140
MIM: 613596
HGNC: 25808
Ensembl: ENSG00000170264

Variants:

dbSNP: 84140
ClinVar: 84140
TCGA: ENSG00000170264
COSMIC: FAM161A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170264ENST00000307507F8W731
ENSG00000170264ENST00000404929Q3B820
ENSG00000170264ENST00000405894Q3B820
ENSG00000170264ENST00000418113H7C4C9
ENSG00000170264ENST00000456262F8WCZ8

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
362333342022Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.1
362333342022Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.1
329389562020Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.11
330939512020Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2.5
329389562020Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.11
330939512020Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2.5
250073322016Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.11
250073322016Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.11
257499902015Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.13
261135022015Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.7
262461542015Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.10
265748022015A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.7
257499902015Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.13
261135022015Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.7
262461542015Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.10

Citation

Dessen P

FAM161A (FAM161 centrosomal protein A)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54302/haematological-explorer/js/favicon/favicon-16x16.png