KIAA0825 (KIAA0825)

2014-11-01  

Identity

HGNC
KIAA0825
LOCATION
5q15
LOCUSID
285600
ALIAS
C5orf36,PAPA10
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285600
MIM: 617266
HGNC: 28532
Ensembl: ENSG00000185261

Variants:

dbSNP: 285600
ClinVar: 285600
TCGA: ENSG00000185261
COSMIC: KIAA0825

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185261ENST00000329378Q8IV33
ENSG00000185261ENST00000513200Q8IV33

Expression (GTEx)

0
1
2
3
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
371076272023Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.0
371076272023Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.0
358860132022Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A.2
358860132022Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A.2
321475262020Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.5
321475262020Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.5
309821352019Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.10
309821352019Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.10
273810922016Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.9
273810922016Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.9
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

KIAA0825 (KIAA0825)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64863/css/lib/css/lib/dataTables.bootstrap.min.css