RSPH4A (radial spoke head component 4A)

2014-11-01  

Identity

HGNC
RSPH4A
LOCATION
6q22.1
LOCUSID
345895
ALIAS
CILD11,RSHL3,RSPH6B,dJ412I7.1

Other Information

Locus ID:

NCBI: 345895
MIM: 612647
HGNC: 21558
Ensembl: ENSG00000111834

Variants:

dbSNP: 345895
ClinVar: 345895
TCGA: ENSG00000111834
COSMIC: RSPH4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111834ENST00000229554Q5TD94
ENSG00000111834ENST00000368580Q5TD94
ENSG00000111834ENST00000368581Q5TD94

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
224482642012Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.21
289392162018A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.8
237980572013Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.0
257895482015Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.0

Citation

Dessen P

RSPH4A (radial spoke head component 4A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72911/rsph4a