Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
130540
Gene name Gene Name - the full gene name approved by the HGNC.
Flagellum associated containing coiled-coil domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FLACC1
Synonyms (NCBI Gene) Gene synonyms aliases
ALS2CR12
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001520 Component Outer dense fiber ISS
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956, 25910212, 26871637, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619796 14439 ENSG00000155749
Protein
UniProt ID Q96Q35
Protein name Flagellum-associated coiled-coil domain-containing protein 1 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein)
Family and domains
Sequence
MYPNPLIYCTCWDPWNLGPRKLIKTPQLPRKNSTGSSKLTPLVPAPKNHNYLQPTKPVVS
PKMKIHSARQEETNKSFYEVINVSPGYQLVRNREQISVTLGDEMFDRKKRWESEIPDKGR
FSRTNIISDLEEQISELTAIIEQMNRDHQSAQKLLSSEMDLRCAEMKQNFENKNRELKEA
HEAELSELENNYKAALKAEKLAAQEKLEEMGKEYKYLKNMFRTYQDSIYDEMEEKWSKQK
AKWKKDEKFERENILLQQKKKMTKKFEMESGEEDKKINESCSAVFENFIQEKEELLKQHQ
SDTLQLEELRKTKEVPWRRDQINRHWHDVLQQLLLMQVMQEELHAQALILESLNTNLYYT
QLELQKEKAIVGNLEKMLQTKFAETEEKYKHTIQILTEENIHLKQKIISKNEEICEGCSG
RLASITVSKDDSDTVQDGSKKGQES
Sequence length 445
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Breast Cancer Breast cancer, Breast cancer (estrogen-receptor negative), Postmenopausal breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma, Squamous cell carcinoma N/A N/A GWAS
Melanoma Melanoma N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 21194473, 21596841, 22532573, 23544014, 24373701, 25168388, 26740556, 26795348, 27197191
Carcinoma Basal Cell Associate 25855136, 26740556
Esophageal Neoplasms Associate 26635288, 28542283
Lung Neoplasms Associate 28542283
Melanoma Associate 21983787
Neoplasms Associate 21596841
Philadelphia Chromosome Associate 29542026
Prostatic Neoplasms Associate 26740556, 27197191