KLHL40 (kelch like family member 40)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
131377
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch like family member 40
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLHL40
Synonyms (NCBI Gene) Gene synonyms aliases
KBTBD5, NEM8, SRYP, SYRP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEM8
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicke
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
SNP ID Visualize variation Clinical significance Consequence
rs139588377 C>A,T Pathogenic, likely-benign Stop gained, synonymous variant, coding sequence variant
rs367579275 G>A,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs397509419 G>A Pathogenic Missense variant, coding sequence variant
rs397509420 G>A,T Pathogenic Missense variant, coding sequence variant, stop gained
rs397509421 G>A,C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(44)
miRTarBase ID miRNA Experiments Reference
MIRT648788 hsa-miR-15a-5p HITS-CLIP 23824327
MIRT648787 hsa-miR-15b-5p HITS-CLIP 23824327
MIRT648786 hsa-miR-16-5p HITS-CLIP 23824327
MIRT648785 hsa-miR-195-5p HITS-CLIP 23824327
MIRT648784 hsa-miR-424-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 28514442, 32296183
GO:0005737 Component Cytoplasm ISS
GO:0031397 Process Negative regulation of protein ubiquitination IBA 21873635
GO:0031398 Process Positive regulation of protein ubiquitination ISS
GO:0031463 Component Cul3-RING ubiquitin ligase complex ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615340 30372 ENSG00000157119
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q2TBA0
Protein name Kelch-like protein 40 (Kelch repeat and BTB domain-containing protein 5) (Sarcosynapsin)
Protein function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, the
PDB 4ASC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 23 → 128 BTB/POZ domain Domain
PF07707 BACK 133 → 239 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 452 → 497 Kelch motif Repeat
PF01344 Kelch_1 499 → 540 Kelch motif Repeat
PF01344 Kelch_1 546 → 596 Kelch motif Repeat
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Also expressed in fetal and adult heart. {ECO:000026
Sequence 
MALGLEQAEEQRLYQQTLLQDGLKDMLDHGKFLDCVVRAGEREFPCHRLVLAACSPYFRA
RFLAEPERAGELHLEEVSPDVVAQVLHYLYTSEIALDEASVQDLFAAAHRFQIPSIFTIC
VSFLQKRLCLSNCLAVFRLGLLLDCARLAVAARDFICAHFTLVARDADFLGLSADELIAI
ISSDGLNVEKEEAVFEAVMRWAGSGDAEAQAERQRALPTVFESVRCRLLPRAFLESRVER
HPLVRAQPELLRKVQMVKDAHEGRITTLRKKKKGKDGAGAKEADKGTSKAKAEEDEEAER
ILPGILNDTLRFGMFLQDLIFMISEEGAVAYDPAANECYCASLSNQVPKNHVSLVTKENQ
VFVAGGLFYNEDNKEDPMSAYFLQFDHLDSEWLGMPPLPSPRCLFGLGEALNSIYVVGGR
EIKDGERCLDSVMCYDRLSFKWGESDPLPYVVYGHTVLSHMDLVYVIGGKGSDRKCLNKM
CVYDPKKFEWKELAPMQTARSLFGATVHDGRIIVAAGVTDTGLTSSAEVYSITDNKWAPF
EAFPQERSSLSLVSLVGTLYAIGGFATLETESGELVPTELNDIWRYNEEEKKWEGVLREI
AYAAGATFLPVRLNVLCLTKM
Sequence length 621
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Myofibrillar myopathy Myofibrillar Myopathy rs121908333, rs121908334, rs28937597, rs121908457, rs121908458, rs121908460, rs121908461, rs121913000, rs60538473, rs57639980, rs121913003, rs57955682, rs121913004, rs121913005, rs57965306
View all (75 more)
Nemaline myopathy NEMALINE MYOPATHY 8 rs80358250, rs80358249, rs121964854, rs1057515573, rs1057515574, rs121913662, rs1057515575, rs1364598710, rs387907090, rs397509419, rs367579275, rs397509420, rs397509421, rs398124167, rs398124172
View all (394 more)		 23746549, 27528495, 27762439, 28973083, 24960163, 26754003, 25721947
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Congenital Nemaline Myopathy severe congenital nemaline myopathy GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining
Disease Name Relationship Type References
Death Associate 25428687
Deglutition Disorders Associate 35379254
Myopathies Nemaline Associate 27528495, 32352246, 35379254
Myotonia Congenita Associate 32352246
Neuromuscular Diseases Associate 26578207, 32352246
Respiratory Insufficiency Associate 32352246, 35379254
Scoliosis Associate 25428687
Squamous Cell Carcinoma of Head and Neck Associate 32931492