KLHL7 (kelch like family member 7)

2007-02-01  

Identity

HGNC
KLHL7
LOCATION
7p15.3
LOCUSID
55975
ALIAS
CISS3,KLHL6,PERCHING,SBBI26
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55975
MIM: 611119
HGNC: 15646
Ensembl: ENSG00000122550

Variants:

dbSNP: 55975
ClinVar: 55975
TCGA: ENSG00000122550
COSMIC: KLHL7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122550ENST00000322275Q8IXQ5
ENSG00000122550ENST00000339077Q8IXQ5
ENSG00000122550ENST00000409689Q8IXQ5
ENSG00000122550ENST00000410047Q8IXQ5
ENSG00000122550ENST00000414163H7C259
ENSG00000122550ENST00000521082E5RFN1

Expression (GTEx)

0
5
10
15
20
25
30
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
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
195202072009Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.45
218280502011Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.23
220842172011Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.16
205479562010Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.10
273920782016Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.8
169187022006Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera.5
290745622017Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.3
290322012017KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa.1
296330552018Clinical and biological roles of Kelch-like family member 7 in breast cancer: a marker of poor prognosis.1
303007102019Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.1

Citation

Dessen P

KLHL7 (kelch like family member 7)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46434/klhl7