Gene Gene information from NCBI Gene database.
Entrez ID 130540
Gene name Flagellum associated containing coiled-coil domains 1
Gene symbol FLACC1
Synonyms (NCBI Gene)
ALS2CR12
Chromosome 2
Chromosome location 2q33.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619796 14439 ENSG00000155749
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
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 Evidence Score
ANTHRACOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF SKIN GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anthracosis Anthracosis CTD_human_DG 29394417
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 25855136, 27539887, 31174203
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 25855136, 27539887, 31174203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 25855136, 27539887, 31174203
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25168388
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma CTD_human_DG 29915430
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 21194473, 21596841, 22532573, 23544014, 24373701, 25168388, 26740556, 26795348, 27197191 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell Basal cell carcinoma Pubtator 25855136, 26740556 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma BEFREE 25855136
★☆☆☆☆
Found in Text Mining only