Gene Gene information from NCBI Gene database.
Entrez ID 89857
Gene name Kelch like family member 6
Gene symbol KLHL6
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q27.1
Summary This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac
miRNA miRNA information provided by mirtarbase database.
236
miRTarBase ID miRNA Experiments Reference
MIRT047570 hsa-miR-10a-5p CLASH 23622248
MIRT1098748 hsa-miR-1228 CLIP-seq
MIRT1098749 hsa-miR-1231 CLIP-seq
MIRT1098750 hsa-miR-1254 CLIP-seq
MIRT1098751 hsa-miR-1290 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0002467 Process Germinal center formation IEA
GO:0005515 Function Protein binding IPI 25036637, 25416956, 26871637, 28514442, 32296183, 32814053, 33961781, 35512704
GO:0005737 Component Cytoplasm IBA
GO:0009617 Process Response to bacterium IEA
GO:0031463 Component Cul3-RING ubiquitin ligase complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614214 18653 ENSG00000172578
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WZ60
Protein name Kelch-like protein 6
Protein function Involved in B-lymphocyte antigen receptor signaling and germinal center formation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 62 169 BTB/POZ domain Domain
PF07707 BACK 174 276 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 411 455 Kelch motif Repeat
PF01344 Kelch_1 457 503 Kelch motif Repeat
PF01344 Kelch_1 547 587 Kelch motif Repeat
Tissue specificity TISSUE SPECIFICITY: Found in germinal center B-cells. {ECO:0000269|PubMed:12617994}.
Sequence
MLMAGQRGAWTMGDVVEKSLEGPLAPSTDEPSQKTGDLVEILNGEKVKFDDAGLSLILQN
GLETLRMENALTDVILCVDIQEFSCHRVVLAAASNYFRAMFCNDLKEKYEKRIIIKGVDA
ETMHTLLDYTYTSKALITKQNVQRVLEAANLFQFLRMVDACASFLTEAL
NPENCVGILRL
ADTHSLDSLKKQVQSYIIQNFVQILNSEEFLDLPVDTLHHILKSDDLYVTEEAQVFETVM
SWVRHKPSERLCLLPYVLENVRLPLLDPWYFVETVE
ADPLIRQCPEVFPLLQEARMYHLS
GNEIISERTKPRMHEFQSEVFMIIGGCTKDERFVAEVTCLDPLRRSRLEVAKLPLTEHEL
ESENKKWVEFACVTLKNEVYISGGKETQHDVWKYNSSINKWIQIEYLNIGRWRHKMVVLG
GKVYVIGGFDGLQRINNVETYDPFHNCWSEAAPLL
VHVSSFAATSHKKKLYVIGGGPNGK
LATDKTQCYDPSTNKWSLKAAMP
VEAKCINAVSFRDRIYVVGGAMRALYAYSPLEDSWCL
VTQLSHERASCGIAPCNNRLYITGGRDEKNEVIATVLCWDPEAQKLTEECVLPRGVSHHG
SVTIRKSYTHIRRIVPGAVSV
Sequence length 621
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Monoclonal B-Cell Lymphocytosis Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 29695787, 30646831
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28807996, 29140403, 30646831
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 30924136
★☆☆☆☆
Found in Text Mining only
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma BEFREE 29695787, 29738359, 30646831
★☆☆☆☆
Found in Text Mining only
Gastritis, Atrophic Gastritis BEFREE 29044464
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma Pubtator 37475138 Associate
★☆☆☆☆
Found in Text Mining only
Lymphoma Follicular Lymphoma Pubtator 22585168, 29140403 Associate
★☆☆☆☆
Found in Text Mining only
Lymphoma, Follicular Lymphoma BEFREE 29140403
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 29044464
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30646831
★☆☆☆☆
Found in Text Mining only