KLHL9 (kelch like family member 9)

2014-11-01  

Identity

HGNC
LOCATION
9p21.3
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 55958
MIM: 611201
HGNC: 18732
Ensembl: ENSG00000198642

Variants:

dbSNP: 55958
ClinVar: 55958
TCGA: ENSG00000198642
COSMIC: KLHL9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198642ENST00000359039Q9P2J3
ENSG00000198642ENST00000359039Q58EZ4

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205546582010Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.27
205748432010Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.18

Citation

Dessen P

KLHL9 (kelch like family member 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64987/klhl9