LRRC43 (leucine rich repeat containing 43)

Gene
Gene Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
254050
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich repeat containing 43
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRRC43
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Other IDs Protein Associated diseases
UniProt ID Q8N309
Protein name Leucine-rich repeat-containing protein 43
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 150 → 207 Leucine rich repeat Repeat
Sequence 
MEASYESESESESEAGPGTQRPGTGTVSAAVREHLRKLCLREFPCGAGSWNKSRFLPQTW
RTWRELVPREEDVVSPGEETVEALLGLVRSRHSPWALLNNSNAEDSFLRELAIRNPLTIT
DTFFYSYFRSLRVIDKKVTLVDKDLLKFLKLEELVLSANRIKEVDATNLPPTLKVLELYG
NEISSMECLCAHPPAGLQHLGLGHNKLLGPLESLYVTANHWPNLVSLDLGFNDLTDLQSM
VTSLRTLRHLRLLVLQGNPLALVPYYRGLTIDSLAQLCVLDDITVSPNEKHLFRGLSLNG
DLLAQEAQFVVTIGNIRGVLDTSVLDPEPRPEGPFITYNYYVTYDFVKDEEGEMNESAGV
LAEIVKPSPSLELLVEESPEEVVEDVIEDIVEEVTEEVEGSLESEVEESGESELSVISGP
STILQMPRASAEELAKLRLRIDPRLCPSPGTVLFSTAHKPWAEVIPCSYEMQHSLRDLVP
LKAFLLAGTTVTIVEEKILSWPVVLPAVDSPLSAKKGKGEKDKKGKEKDRTGKGEKEPAK
EWKVLKKKKEPPKELRQDPPILQVLGRGLVILEPLLAGEPLVSTVCNFGVVRTLTSDRLT
LARDSKKIKKVAKKEKPKAVIPIYEGDYHPEPLTVEVQIQLNQCRSAEEALRMFAV
Sequence length 656
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Basal cell carcinoma N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Ovarian Epithelial Associate 29484036
Cardiomyopathy Dilated Associate 28572699
Colorectal Neoplasms Associate 36980864
Cryptorchidism Associate 31145337