FAM161A (FAM161 centrosomal protein A)

2014-08-01  

Identity

HGNC
FAM161A
LOCATION
2p15
LOCUSID
84140
ALIAS
RP28
FUSION GENES
Show Gene Fusions

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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/meetings/js/web-card-_common.js