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Aliases for FOCAD Gene

Aliases for FOCAD Gene

  • Focadhesin 2 3 3 5
  • KIAA1797 2 3 4

External Ids for FOCAD Gene

Previous HGNC Symbols for FOCAD Gene

  • KIAA1797

Summaries for FOCAD Gene

GeneCards Summary for FOCAD Gene

FOCAD (Focadhesin) is a Protein Coding gene. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for FOCAD Gene

  • Potential tumor suppressor in gliomas.

Gene Wiki entry for FOCAD Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOCAD Gene

Genomics for FOCAD Gene

Regulatory Elements for FOCAD Gene

Enhancers for FOCAD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around FOCAD on UCSC Golden Path with GeneCards custom track

Promoters for FOCAD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for FOCAD Gene

Chromosome:
9
Start:
20,658,309 bp from pter
End:
20,995,955 bp from pter
Size:
337,647 bases
Orientation:
Plus strand

Genomic View for FOCAD Gene

Genes around FOCAD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FOCAD Gene

Proteins for FOCAD Gene

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

    Protein Symbol:
    Q5VW36-FOCAD_HUMAN
    Recommended name:
    Focadhesin
    Protein Accession:
    Q5VW36
    Secondary Accessions:
    • D3DRJ9
    • Q6ZME1
    • Q8IZG0
    • Q96JM8
    • Q96MS9
    • Q9BVF3
    • Q9NX87

    Protein attributes for FOCAD Gene

    Size:
    1801 amino acids
    Molecular mass:
    200072 Da
    Quaternary structure:
    • Interacts with VCL.
    SequenceCaution:
    • Sequence=BAA91129.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91129.1; Type=Frameshift; Positions=261; Evidence={ECO:0000305}; Sequence=BAD18787.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for FOCAD Gene

Post-translational modifications for FOCAD Gene

  • Ubiquitination at Lys 553, Lys 577, Lys 583, Lys 799, and Lys 1777
  • Modification sites at PhosphoSitePlus

Other Protein References for FOCAD Gene

No data available for DME Specific Peptides for FOCAD Gene

Domains & Families for FOCAD Gene

Protein Domains for FOCAD Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FOCAD: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for FOCAD Gene

Function for FOCAD Gene

Molecular function for FOCAD Gene

UniProtKB/Swiss-Prot Function:
Potential tumor suppressor in gliomas.

Gene Ontology (GO) - Molecular Function for FOCAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22427331
genes like me logo Genes that share ontologies with FOCAD: view
genes like me logo Genes that share phenotypes with FOCAD: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for FOCAD Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOCAD Gene

Membrane; Multi-pass membrane protein. Cell junction, focal adhesion. Note=Colocalizes with VCL in astrocytes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOCAD Gene COMPARTMENTS Subcellular localization image for FOCAD gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FOCAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005925 focal adhesion IDA 22427331
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FOCAD: view

Pathways & Interactions for FOCAD Gene

SuperPathways for FOCAD Gene

No Data Available

Interacting Proteins for FOCAD Gene

Gene Ontology (GO) - Biological Process for FOCAD Gene

None

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

Drugs & Compounds for FOCAD Gene

No Compound Related Data Available

Transcripts for FOCAD Gene

Unigene Clusters for FOCAD Gene

Focadhesin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1:
SP2: -
SP3: - -
SP4: - -
SP5:

Relevant External Links for FOCAD Gene

GeneLoc Exon Structure for
FOCAD
ECgene alternative splicing isoforms for
FOCAD

Expression for FOCAD Gene

mRNA expression in normal human tissues for FOCAD Gene

Protein differential expression in normal tissues from HIPED for FOCAD Gene

This gene is overexpressed in Stomach (16.3), Adrenal (8.7), Plasma (7.3), and Lymph node (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FOCAD Gene



Protein tissue co-expression partners for FOCAD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FOCAD Gene:

FOCAD

SOURCE GeneReport for Unigene cluster for FOCAD Gene:

Hs.136247

mRNA Expression by UniProt/SwissProt for FOCAD Gene:

Q5VW36-FOCAD_HUMAN
Tissue specificity: Ubiquitous. High expression in brain followed by testis, muscle, pancreas, heart, ovary, small intestine, placenta, prostate, thymus, kidney, colon, liver, lung, spleen and leukocytes. Expression is reduced in most glioblastomas and all glioblastoma cell lines.
genes like me logo Genes that share expression patterns with FOCAD: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FOCAD Gene

Orthologs for FOCAD Gene

This gene was present in the common ancestor of animals.

Orthologs for FOCAD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FOCAD 34
  • 89.25 (n)
  • 89.12 (a)
KIAA1797 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOCAD 34
  • 88.77 (n)
  • 89.45 (a)
FOCAD 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Focad 34
  • 84.63 (n)
  • 83.82 (a)
Focad 16
Focad 35
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FOCAD 34
  • 99.48 (n)
  • 99.22 (a)
FOCAD 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Focad 34
  • 84.59 (n)
  • 83.93 (a)
oppossum
(Monodelphis domestica)
Mammalia FOCAD 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves FOCAD 34
  • 70.19 (n)
  • 67 (a)
-- 35
  • 56 (a)
OneToMany
-- 35
  • 52 (a)
OneToMany
FOCAD 35
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia FOCAD 35
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Dr.16271 34
focad 34
  • 56.71 (n)
  • 51.21 (a)
FOCAD 35
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3520 35
  • 21 (a)
OneToOne
Species where no ortholog for FOCAD 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)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FOCAD Gene

ENSEMBL:
Gene Tree for FOCAD (if available)
TreeFam:
Gene Tree for FOCAD (if available)

Paralogs for FOCAD Gene

No data available for Paralogs for FOCAD Gene

Variants for FOCAD Gene

Sequence variations from dbSNP and Humsavar for FOCAD Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10511687 - 20,764,871(-) CTTCT(A/G)ACCTA reference, missense
rs10441706 - 20,770,032(+) AACAG(A/G)TAAAA reference, missense
rs17832431 - 20,820,330(+) TGTGT(A/G)TAGGA reference, missense
rs7875872 - 20,866,975(+) CTTTA(C/G)TGCAG reference, missense
rs3206852 -, -, - 20,953,050(-) TCCTG(A/C/G/T)AATGA reference, missense

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

Variant ID Type Subtype PubMed ID
esv1761789 CNV deletion 17803354
esv1962655 CNV deletion 18987734
esv2421522 CNV deletion 20811451
esv2659270 CNV deletion 23128226
esv2738270 CNV deletion 23290073
esv2738271 CNV deletion 23290073
esv2759677 CNV loss 17122850
esv2764150 CNV gain+loss 21179565
esv3451468 CNV insertion 20981092
esv3576641 CNV gain 25503493
esv3619939 CNV loss 21293372
esv3619940 CNV loss 21293372
esv3619941 CNV loss 21293372
esv3619943 CNV loss 21293372
esv3619944 CNV gain 21293372
esv3619945 CNV loss 21293372
esv3891632 CNV gain 25118596
nsv1015492 CNV loss 25217958
nsv1017312 CNV gain 25217958
nsv1024327 CNV loss 25217958
nsv1028928 CNV loss 25217958
nsv1032837 CNV loss 25217958
nsv1161846 CNV deletion 26073780
nsv437645 CNV loss 16327808
nsv442137 CNV loss 18776908
nsv466291 CNV loss 19166990
nsv466292 CNV gain 19166990
nsv507509 OTHER sequence alteration 20534489
nsv510188 OTHER sequence alteration 20534489
nsv516765 CNV loss 19592680
nsv518943 CNV loss 19592680
nsv523258 CNV loss 19592680
nsv524000 CNV loss 19592680
nsv524984 CNV loss 19592680
nsv527232 CNV loss 19592680
nsv613747 CNV loss 21841781
nsv613748 CNV loss 21841781
nsv613749 CNV loss 21841781
nsv613750 CNV gain 21841781
nsv613751 CNV loss 21841781
nsv6499 CNV insertion 18451855
nsv824873 CNV loss 20364138
nsv824874 CNV loss 20364138

Variation tolerance for FOCAD Gene

Residual Variation Intolerance Score: 70.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.10; 97.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOCAD Gene

Human Gene Mutation Database (HGMD)
FOCAD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOCAD

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

Disorders for FOCAD Gene

Relevant External Links for FOCAD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOCAD

No disorders were found for FOCAD Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FOCAD Gene

Publications for FOCAD Gene

  1. KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas. (PMID: 22427331) Brockschmidt A. … Weber R.G. (Brain 2012) 2 3 4 65
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  3. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 3 4 65
  4. Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development. (PMID: 25712196) Weren R.D. … Kuiper R.P. (J. Pathol. 2015) 3 65
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 65

Products for FOCAD Gene

Sources for FOCAD Gene

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