KLHL38 (kelch like family member 38)

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Gene Gene information from NCBI Gene database.
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Entrez ID 340359
Gene name Kelch like family member 38
Gene symbol KLHL38
Synonyms (NCBI Gene)
C8ORFK36
Chromosome 8
Chromosome location 8q24.13
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT458430 hsa-miR-6758-5p HITS-CLIP 23706177
MIRT458429 hsa-miR-6856-5p HITS-CLIP 23706177
MIRT458428 hsa-miR-4688 HITS-CLIP 23706177
MIRT458427 hsa-miR-6743-5p HITS-CLIP 23706177
MIRT458425 hsa-miR-6761-5p HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22939624, 25036637, 25416956, 32296183
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.
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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.
Q2WGJ6
Protein name Kelch-like protein 38
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 24 → 131 BTB/POZ domain Domain
PF01344 Kelch_1 510 → 560 Kelch motif Repeat
PF01344 Kelch_1 372 → 418 Kelch motif Repeat
PF07707 BACK 136 → 237 BTB And C-terminal Kelch Domain
Sequence 
MDEESLDGLLFKDHDFSSDLLRQLNSLRQSRILTDVSICAGAREIPCHRNVLASSSPYFR
AMFCSSFREKSEAKVQLKGIDPPTLDQIVSYVYTGEAHIATDNVLPVMEAASMLQFPKLF
EACSSYLQSQLAPSNCLGMIRLSEILSCETLKKKAREVALTSFPEVAASADLKELCALEL
RDYLGDDGLCGEEEKVFEALMVWIKHDLQARKRYMQELFKQVRLQYIHPAFFHHFIANDA
LLQSSPACQIILETAKRQMFSLCGTTVPDCKLLLHVPPRNSYQDFLILLGGRKDSQQTTR
DVLLYSKQTGQWQSLAKLPTRLYKASAITLHRSIYVLGGMAVSSGRSLVSHNVYIFSLKL
NQWRLGEPMLVARYSHRSTAHKNFIFSIGGIGEGQELMGSMERYDSICNVWESMASMPVG
VLHPAVAVKDQRLYLFGGEDIMQNPVRLIQVYHISRNSWFKMETRMIKNVCAPAVVLGER
IVIVGGYTRRILAYDPQSNKFVKCADMKDRRMHHGATVMGNKLYVTGGRRLTTDCNIEDS
ASFDCYDPETDTWTSQGQLPHKLFDHACLTLQCIPRTSGLP
Sequence length 581
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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
ATHEROSCLEROSIS — GWAS catalog 34852643
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog 29892015, 30061737, 36653681
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 29059683, 32139696
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 29059683, 32139696
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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HERPUD1 2 shared diseasesAtherosclerosis, Glaucoma 2 shared evidence sourcesGWAS catalog (Atherosclerosis), GWAS catalog (Glaucoma) Related via 2 shared diseases including Atherosclerosis, Glaucoma — evidence mostly GWAS catalog. LOXL1 2 shared diseasesAtherosclerosis, Glaucoma 2 shared evidence sourcesGWAS catalog (Atherosclerosis), GWAS catalog (Glaucoma) Related via 2 shared diseases including Atherosclerosis, Glaucoma — evidence mostly GWAS catalog. APOC1 2 shared diseasesAtherosclerosis, Glaucoma 2 shared evidence sourcesGWAS catalog (Atherosclerosis), GWAS catalog (Glaucoma) Related via 2 shared diseases including Atherosclerosis, Glaucoma — evidence mostly GWAS catalog. CETP 2 shared diseasesAtherosclerosis, Glaucoma 2 shared evidence sourcesGWAS catalog (Atherosclerosis), GWAS catalog (Glaucoma) Related via 2 shared diseases including Atherosclerosis, Glaucoma — evidence mostly GWAS catalog. NECTIN2 2 shared diseasesAtherosclerosis, Glaucoma 1 shared evidence sourceGWAS catalog (Glaucoma) Related via 2 shared diseases including Atherosclerosis, Glaucoma — evidence mostly GWAS catalog.
Coronary artery disease Linked via 5 of 5 related genesHERPUD1, LOXL1, APOC1, CETP, NECTIN2 Metabolic syndrome Linked via 4 of 5 related genesHERPUD1, APOC1, CETP, NECTIN2 Diabetes mellitus type 2 Linked via 4 of 5 related genesHERPUD1, APOC1, CETP, NECTIN2 Cancer Linked via 3 of 5 related genesHERPUD1, APOC1, CETP Cardiovascular disease Linked via 3 of 5 related genesHERPUD1, CETP, NECTIN2