KLHL33 (kelch like family member 33)

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Gene Gene information from NCBI Gene database.
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Entrez ID 123103
Gene name Kelch like family member 33
Gene symbol KLHL33
Synonyms (NCBI Gene)
-
Chromosome 14
Chromosome location 14q11.2
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NCF5
Protein name Kelch-like protein 33
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01344 Kelch_1 311 → 356 Kelch motif Repeat
PF01344 Kelch_1 407 → 452 Kelch motif Repeat
PF01344 Kelch_1 261 → 309 Kelch motif Repeat
PF07707 BACK 75 → 176 BTB And C-terminal Kelch Domain
Sequence 
MLLSGMRESQGTEVSLRTISTQDLRLLVSFAYSGVVRARWPGLLRAAQAALQYQSSSCLD
LCQKGLARGLSPARCLALFPMAEAPGLERLWSKARHYLLTHLPAVALCPAFPSLPAACLA
ELLDSDELHVQEEFEAFVAARCWLAANPETQESEAKALLRCVRFGRMSTRELRRVRAAGL
LPPLTPDLLHQLMVEADVPGQERRREPDRALVVIGGDGLRPDMALRQPSRAVWWARAFRC
GVGLVRTVEWGQLPALPAPGRFRHGAASLAGSELYVCGGQDFYSHSNTLASTLRWEPSQE
DWEEMAPLSQARSLFSLVALDGKLYALGGRHNDVALDSVETYNPELNVWRPAPALPAPCF
AHAAAILEGQLYVSGGCGGTGQYLASLMHYDPKLEKPGTFLSPMGVPRAGHVMAALGGRL
YVAGGLGETEDLLSFEAYELRTDSWTHLAPLPSPHVGAASAVLQGELLVLGGYSHRTYAL
SHLIHAYCPGLGRWLCLGTLPRPRAEMPACILTLPAVQHIALVPTPHQTKPAG
Sequence length 533
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 Reference Evidence Score
EOSINOPHILIC ESOPHAGITIS — GWAS catalog 36400179
★★★★★
★★☆☆☆
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
Prostatic Neoplasms Prostatic neoplasm Pubtator 25371445 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Takayasu Arteritis Takayasu Arteritis GWASCAT_DG 30498034
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for KLHL33.

No additional diseases found yet through genes similar to KLHL33.