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Gene Gene information from NCBI Gene database.
Entrez ID 114818
Gene name Kelch like family member 29
Gene symbol KLHL29
Synonyms (NCBI Gene)
KBTBD9
Chromosome 2
Chromosome location 2p24.1
miRNA miRNA information provided by mirtarbase database.
71 Show/Hide all (71)
miRTarBase ID miRNA Experiments Reference
MIRT440355 hsa-miR-127-5p HITS-CLIP 24374217
MIRT440355 hsa-miR-127-5p HITS-CLIP 24374217
MIRT1098381 hsa-miR-1 CLIP-seq
MIRT1098382 hsa-miR-103a CLIP-seq
MIRT1098383 hsa-miR-107 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25036637, 28514442, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0031463 Component Cul3-RING ubiquitin ligase complex IBA
GO:0043161 Process Proteasome-mediated ubiquitin-dependent protein catabolic process IBA
GO:1990756 Function Ubiquitin-like ligase-substrate adaptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96CT2
Protein name Kelch-like protein 29 (Kelch repeat and BTB domain-containing protein 9)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 319 → 431 BTB/POZ domain Domain
PF01344 Kelch_1 672 → 717 Kelch motif Repeat
PF01344 Kelch_1 810 → 857 Kelch motif Repeat
PF01344 Kelch_1 719 → 765 Kelch motif Repeat
PF07707 BACK 436 → 538 BTB And C-terminal Kelch Domain
Sequence
MSRHHSRFERDYRVGWDRREWSVNGTHGTTSICSVTSGAGGGTASSLSVRPGLLPLPVVP
SRLPTPATAPAPCTTGSSEAITSLVASSASAVTTKAPGISKGDSQSQGLATSIRWGQTPI
NQSTPWDTDEPPSKQMRESDNPGTGPWVTTVAAGNQPTLIAHSYGVAQPPTFSPAVNVQA
PVIGVTPSLPPHVGPQLPLMPGHYSLPQPPSQPLSSVVVNMPAQALYASPQPLAVSTLPG
VGQVARPGPTAVGNGHMAGPLLPPPPPAQPSATLPSGAPATNGPPTTDSAHGLQMLRTIG
VGKYEFTDPGHPREMLKELNQQRRAKAFTDLKIVVEGREFEVHQNVLASCSLYFKDLIQR
SVQDSGQGGREKLELVLSNLQADVLELLLEFVYTGSLVIDSANAKTLLEAASKFQFHTFC
KVCVSFLEKQL
TASNCLGVLAMAEAMQCSELYHMAKAFALQIFPEVAAQEEILSISKDDF
IAYVSNDSLNTKAEELVYETVIKWIKKDPATRTQYAAELLAVVRLPFIHPSYLLNVVD
NE
ELIKSSEACRDLVNEAKRYHMLPHARQEMQTPRTRPRLSAGVAEVIVLVGGRQMVGMTQR
SLVAVTCWNPQNNKWYPLASLPFYDREFFSVVSAGDNIYLSGGMESGVTLADVWCYMSLL
DNWNLVSRMTVPRCRHNSLVYDGKIYTLGGLGVAGNVDHVERYDTITNQWEAVAPLPKAV
HSAAATVCGGKIYVFGGVNEAGRAAGVLQSYVPQTNTWSFIESPM
IDNKYAPAVTLNGFV
FILGGAYARATTIYDPEKGNIKAGPNMNHSRQFCSAVVLDGKIYATGGIVSSEGPALGNM
EAYEPTTNTWTLLPHMP
CPVFRHGCVVIKKYIQSG
Sequence length 875
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
ASTROCYTOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS — GWAS catalog 28468790
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY — GWAS catalog 30531953
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (9)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 37845393 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28081303 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease GWASDB_DG 21347282
★★★★★
★☆☆☆☆
Found in Text Mining only
Epilepsy, Generalized Epilepsy GWASCAT_DG 30531953
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension GWASCAT_DG 21347282
★★★★★
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 29942085
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Medulloblastoma Medulloblastoma Pubtator 36273157 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood Disorder GWASCAT_DG 29942085
★★★★★
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple negative breast cancer Pubtator 37845393 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only