KLHL10 (kelch like family member 10)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
317719
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch like family member 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLHL10
Synonyms (NCBI Gene) Gene synonyms aliases
SPGF11
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs116420871 A>C Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant
rs370756367 G>A Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608778 18829 ENSG00000161594
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6JEL2
Protein name Kelch-like protein 10
Protein function May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 29 → 136 BTB/POZ domain Domain
PF07707 BACK 141 → 244 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 292 → 323 Kelch motif Repeat
PF01344 Kelch_1 328 → 373 Kelch motif Repeat
PF01344 Kelch_1 375 → 420 Kelch motif Repeat
PF01344 Kelch_1 422 → 467 Kelch motif Repeat
PF01344 Kelch_1 469 → 514 Kelch motif Repeat
PF01344 Kelch_1 516 → 561 Kelch motif Repeat
Sequence
Sequence length 608
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Male infertility male infertility with azoospermia or oligozoospermia due to single gene mutation N/A N/A GenCC
Non-obstructive azoospermia non-obstructive azoospermia N/A N/A ClinVar
Spermatogenic Failure spermatogenic failure 11 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 30544396
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 31479588
Oligospermia Associate 32655042