Gene Gene information from NCBI Gene database.
Entrez ID 114792
Gene name Kelch like family member 32
Gene symbol KLHL32
Synonyms (NCBI Gene)
BKLHD5KIAA1900UG0030H05dJ21F7.1
Chromosome 6
Chromosome location 6q16.1
miRNA miRNA information provided by mirtarbase database.
53
miRTarBase ID miRNA Experiments Reference
MIRT018022 hsa-miR-335-5p Microarray 18185580
MIRT445939 hsa-miR-3200-5p PAR-CLIP 22100165
MIRT445938 hsa-miR-4251 PAR-CLIP 22100165
MIRT445937 hsa-miR-4329 PAR-CLIP 22100165
MIRT445936 hsa-miR-6761-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
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.
Q96NJ5
Protein name Kelch-like protein 32 (BTB and kelch domain-containing protein 5)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 32 139 BTB/POZ domain Domain
PF07707 BACK 144 245 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 335 385 Kelch motif Repeat
PF01344 Kelch_1 387 432 Kelch motif Repeat
PF01344 Kelch_1 483 530 Kelch motif Repeat
Sequence
MPSERCLSIQEMLTGQRLCHSESHNDSVLAALNQQRSDGILCDITLIAEEQKFHAHKAVL
AACSDYFRAMFSLCMVESGADEVNLHGVTSLGLKQALEFAYTGQILLEPGVIQDVLAAGS
HLQLLELLNLCSHYLIQEL
NSFNYLDLYRLADLFNLTLLEKAVIDFLVKHLSELLKSRPE
EVLTLPYCLLQEVLKSDRLTSLSEEQIWQLAVRWLEHNCHYQYMDELLQYIRFGLMDVDT
LHTVA
LSHPLVQASETATALVNEALEYHQSIYAQPVWQTRRTKPRFQSDTLYIIGGKKRE
VCKVKELRYFNPVDQENALIAAIANWSELAPMPVGRSHHCVAVMGDFLFVAGGEVEHASG
RTCAVRTACRYDPRSNSWAEIAPMK
NCREHFVLGAMEEYLYAVGGRNELRQVLPTVERYC
PKKNKWTFVQSF
DRSLSCHAGYVADGLLWISGGVTNTAQYQNRLMVYEPNQNKWISRSPM
LQRRVYHSMAAVQRKLYVLGGNDLDYNNDRILVRHIDSYNIDTDQWTRCNFNLLTGQNES
GVAVHNGRIYLVGGYSIWTNEPLACIQVLDVSREGKEEVFYGPTLPFASNGIAACFLPAP
YFTCPNLQTLQVPHHRIGTI
Sequence length 620
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
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
Autistic Disorder Autism Pubtator 23253088 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 26634245
★☆☆☆☆
Found in Text Mining only
Language Development Disorders Language development disorders Pubtator 23253088 Associate
★☆☆☆☆
Found in Text Mining only
Speech Delay Speech Delay BEFREE 23253088
★☆☆☆☆
Found in Text Mining only
Tourette Syndrome Tourette syndrome Pubtator 23253088 Associate
★☆☆☆☆
Found in Text Mining only