Aliases for FLACC1 Gene

Aliases for FLACC1 Gene

  • Flagellum Associated Containing Coiled-Coil Domains 1 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 12 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 12 2 3
  • Flagellum-Associated Coiled-Coil Domain-Containing Protein 1 3 4
  • ALS2 Chromosome Region 12 2 3
  • ALS2CR12 3 4
  • Amyotrophic Lateral Sclerosis 2 Chromosome Region Candidate 12 3
  • Amyotrophic Lateral Sclerosis 2 Chromosome Region 12 3

External Ids for FLACC1 Gene

Previous HGNC Symbols for FLACC1 Gene

  • ALS2CR12

Summaries for FLACC1 Gene

GeneCards Summary for FLACC1 Gene

FLACC1 (Flagellum Associated Containing Coiled-Coil Domains 1) is a Protein Coding gene. Diseases associated with FLACC1 include Amyotrophic Lateral Sclerosis 2, Juvenile.

Additional gene information for FLACC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FLACC1 Gene

Genomics for FLACC1 Gene

GeneHancer (GH) Regulatory Elements for FLACC1 Gene

Promoters and enhancers for FLACC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J201356 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 500.7 -0.2 -167 1.7 RFX1 NFYB SIN3A ESRRA NFYA PKNOX1 RFX5 NFYC SP1 FOXA2 FLACC1 lnc-TRAK2-2 piR-57134-074 CASP8 STRADB
GH02J201358 Enhancer 0.8 Ensembl ENCODE 500.7 -1.6 -1627 0.8 JUND FOS RFX1 FOSL1 FOSL2 BATF JUNB BHLHE40 POLR2A JUN FLACC1 lnc-TRAK2-2 CASP8 PPIL3 STRADB
GH02J201381 Promoter 0.3 EPDnew 500.4 -23.8 -23842 0.1 FLACC1 STRADB TRAK2
GH02J201251 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 +98.9 98896 13.4 ZBTB40 EP300 SIN3A TCF12 POLR2G SP1 JUND FOS CTCF ZNF10 CASP8 NONHSAG030244.2 FLACC1 STRADB PPIL3 CASP10 CLK1 CFLAR FAM126B piR-48300-061
GH02J201450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.5 -94.6 -94647 3.7 EP300 FOXK2 ZBTB40 ZNF217 SIN3A TCF12 POLR2G SP1 NCOR1 PHF8 STRADB HSALNG0021558 TRAK2 lnc-C2CD6-2 CASP8 ORC2 CLK1 NOP58 ENSG00000213090 TMEM237
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FLACC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FLACC1

Genomic Locations for FLACC1 Gene

Genomic Locations for FLACC1 Gene
chr2:201,288,271-201,357,398
(GRCh38/hg38)
Size:
69,128 bases
Orientation:
Minus strand
chr2:202,152,994-202,222,121
(GRCh37/hg19)
Size:
69,128 bases
Orientation:
Minus strand

Genomic View for FLACC1 Gene

Genes around FLACC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLACC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLACC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLACC1 Gene

Proteins for FLACC1 Gene

  • Protein details for FLACC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q35-FACC1_HUMAN
    Recommended name:
    Flagellum-associated coiled-coil domain-containing protein 1
    Protein Accession:
    Q96Q35
    Secondary Accessions:
    • G5E9S3
    • Q53TT6
    • Q8N1B6

    Protein attributes for FLACC1 Gene

    Size:
    445 amino acids
    Molecular mass:
    52439 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FLACC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLACC1 Gene

Post-translational modifications for FLACC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FLACC1 Gene

Domains & Families for FLACC1 Gene

Gene Families for FLACC1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FLACC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FLACC1 Gene

GenScript: Design optimal peptide antigens:
  • Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein (AL2SB_HUMAN)
genes like me logo Genes that share domains with FLACC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FLACC1 Gene

Function for FLACC1 Gene

Phenotypes From GWAS Catalog for FLACC1 Gene

Gene Ontology (GO) - Molecular Function for FLACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with FLACC1: view
genes like me logo Genes that share phenotypes with FLACC1: view

miRNA for FLACC1 Gene

miRTarBase miRNAs that target FLACC1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FLACC1 Gene

Localization for FLACC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLACC1 Gene

Cytoplasm. Cytoplasmic granule. Cell projection, cilium, flagellum. Note=Expressed in the principal piece of the sperm tail, nearest the sperm head. {ECO:0000250 UniProtKB:Q8BVM7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLACC1 gene
Compartment Confidence
cytoskeleton 4
plasma membrane 2
mitochondrion 2
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001520 outer dense fiber ISS --
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm ISS --
GO:0005929 cilium IEA --
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with FLACC1: view

Pathways & Interactions for FLACC1 Gene

PathCards logo

SuperPathways for FLACC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FLACC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FLACC1 Gene

Drugs & Compounds for FLACC1 Gene

No Compound Related Data Available

Transcripts for FLACC1 Gene

mRNA/cDNA for FLACC1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FLACC1 Gene

No ASD Table

Relevant External Links for FLACC1 Gene

GeneLoc Exon Structure for
FLACC1

Expression for FLACC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FLACC1

SOURCE GeneReport for Unigene cluster for FLACC1 Gene:

Hs.107944

Evidence on tissue expression from TISSUES for FLACC1 Gene

  • Nervous system(4.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FLACC1 Gene

Orthologs for FLACC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FLACC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALS2CR12 31 30
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALS2CR12 31 30
  • 83.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALS2CR12 31 30
  • 83.17 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Als2cr12 30
  • 77.22 (n)
mouse
(Mus musculus)
Mammalia Als2cr12 31 30
  • 74.96 (n)
OneToOne
Flacc1 17
platypus
(Ornithorhynchus anatinus)
Mammalia ALS2CR12 31
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALS2CR12 31
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALS2CR12 31
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia als2cr12 30
  • 46.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 13 (a)
OneToOne
Species where no ortholog for FLACC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FLACC1 Gene

ENSEMBL:
Gene Tree for FLACC1 (if available)
TreeFam:
Gene Tree for FLACC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FLACC1: view image

Paralogs for FLACC1 Gene

No data available for Paralogs for FLACC1 Gene

Variants for FLACC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FLACC1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs17468277 Benign: not specified 201,289,477(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs13014235 - p.Val43Leu

Additional dbSNP identifiers (rs#s) for FLACC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FLACC1 Gene

Variant ID Type Subtype PubMed ID
esv1004879 CNV deletion 20482838
esv3593977 CNV loss 21293372
esv3593978 CNV loss 21293372
esv3893532 CNV loss 25118596
nsv507062 OTHER sequence alteration 20534489
nsv584160 CNV loss 21841781

Variation tolerance for FLACC1 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FLACC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLACC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLACC1 Gene

Disorders for FLACC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FLACC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FLACC1

genes like me logo Genes that share disorders with FLACC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FLACC1 Gene

Publications for FLACC1 Gene

  1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S … Ikeda JE (Nature genetics 2001) 2 3 4 54
  2. Expression of a sperm flagellum component encoded by the Als2cr12 gene. (PMID: 21402173) Choi E … Cho C (Gene expression patterns : GEP 2011) 2 3 54
  3. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 54
  4. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3 54
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3 54

Products for FLACC1 Gene

Sources for FLACC1 Gene