KLHL15 (kelch like family member 15)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 80311
Gene name Kelch like family member 15
Gene symbol KLHL15
Synonyms (NCBI Gene)
HEL-S-305XLID103
Chromosome X
Chromosome location Xp22.11
Summary This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1060499748 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2040
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2040)
miRTarBase ID miRNA Experiments Reference
MIRT026433 hsa-miR-192-5p Microarray 19074876
MIRT030865 hsa-miR-21-5p Microarray 18591254
MIRT050580 hsa-miR-20a-5p CLASH 23622248
MIRT050580 hsa-miR-20a-5p CLASH 23622248
MIRT049095 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25036637, 27561354, 33199366, 33961781, 35219381
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 27561354
GO:0005634 Component Nucleus IEA
GO:0006511 Process Ubiquitin-dependent protein catabolic process IDA 27561354
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300980 29347 ENSG00000174010
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96M94
Protein name Kelch-like protein 15
Protein function Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex (PubMed:14528312, PubMed:27561354, PubMed:35219381). Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitinat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 21 → 128 BTB/POZ domain Domain
PF07707 BACK 133 → 237 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 368 → 411 Kelch motif Repeat
PF01344 Kelch_1 477 → 529 Kelch motif Repeat
Sequence 
MAGDVEGFCSSIHDTSVSAGFRALYEEGLLLDVTLVIEDHQFQAHKALLATQSDYFRIMF
TADMRERDQDKIHLKGLTATGFSHVLQFMYYGTIELSMNTVHEILQAAMYVQLIEVVKFC
CSFLLAKICLENCAEIMRLLDDFGVNIEGVREKLDTFLLDNFVPLMSRPDFLSYLSFEKL
MSYLDNDHLSRFPEIELYEAVQSWLRHDRRRWRHTDTIIQNIRFCLMTPTSVFEKVKTSE
FYRYSRQLRYEVDQALNYFQNVHQQPLLDMKSSRIRSAKPQTTVFRGMIGHSMVNSKILL
LKKPRVWWELEGPQVPLRPDCLAIVNNFVFLLGGEELGPDGEFHASSKVFRYDPRQNSWL
QMADMSVPRSEFAVGVIGKFIYAVAGRTRDETFYSTERYDITNDKWEFVDPYPVNKYGHE
GTVLNNKLFITGGITSSSTSKQVCVFDPSKEGTIEQRTRRTQVVTNCWENKSKMNYARCF
HKMISYNGKLYVFGGVCVILRASFESQGCPSTEVYNPETDQWTILASMPIGRSGHGVTVL
DKQIMVLGGLCYNGHYSDSILTFDPDENKWKEDEYPRMPCKLDGLQVCNLHFPDYVLDEV
RRCN
Sequence length 604
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal brain morphology Likely pathogenic rs1060499748 RCV000454336
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 103 Pathogenic rs1929024034 RCV000241532
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
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
Colon adenocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 — CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KLHL15-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cryptorchidism Cryptorchidism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 33960364 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation GENOMICS_ENGLAND_DG 25644381
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Macrostomia Macrostomia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Mental impairment Mental Depression BEFREE 24817631
★★★★★
★☆☆☆☆
Found in Text Mining only
MENTAL RETARDATION, X-LINKED 103 Mental Retardation, X-Linked GENOMICS_ENGLAND_DG 25644381
★★★★★
★☆☆☆☆
Found in Text Mining only
MENTAL RETARDATION, X-LINKED 103 Mental Retardation, X-Linked CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Penis agenesis Penis Agenesis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only