This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carc... See more...

Aliases for CTTN Gene

Aliases for CTTN Gene

  • Cortactin 2 3 5
  • Ems1 Sequence (Mammary Tumor And Squamous Cell Carcinoma-Associated (P80/85 Src Substrate) 2 3
  • Src Substrate Cortactin 3 4
  • Oncogene EMS1 3 4
  • Amplaxin 3 4
  • EMS1 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • 1110020L01Rik 3
  • CTTN 5

External Ids for CTTN Gene

Previous HGNC Symbols for CTTN Gene

  • EMS1

Previous GeneCards Identifiers for CTTN Gene

  • GC11P069971
  • GC11P069922
  • GC11P070244
  • GC11P066505

Summaries for CTTN Gene

Entrez Gene Summary for CTTN Gene

  • This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for CTTN Gene

CTTN (Cortactin) is a Protein Coding gene. Diseases associated with CTTN include Ethmoid Sinus Adenocarcinoma and Wiskott-Aldrich Syndrome. Among its related pathways are Proteoglycans in cancer and Agrin Interactions at Neuromuscular Junction. Gene Ontology (GO) annotations related to this gene include profilin binding. An important paralog of this gene is HCLS1.

UniProtKB/Swiss-Prot Summary for CTTN Gene

  • Contributes to the organization of the actin cytoskeleton and cell shape (PubMed:21296879). Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with CTTNBP2, involved in the regulation of neuronal spine density (By similarity). Plays a role in the invasiveness of cancer cells, and the formation of metastases (PubMed:16636290). Plays a role in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement (PubMed:20861316). Plays a role in intracellular protein transport and endocytosis, and in modulating the levels of potassium channels present at the cell membrane (PubMed:17959782). Plays a role in receptor-mediated endocytosis via clathrin-coated pits (By similarity). Required for stabilization of KCNH1 channels at the cell membrane (PubMed:23144454).

Gene Wiki entry for CTTN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTTN Gene

Genomics for CTTN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTTN 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
GH11J070396 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 261 +0.7 674 4.2 MYC IKZF1 ZNF600 JUND ZNF592 CEBPA POLR2A ZIC2 ZBTB10 MXD4 CTTN ENSG00000246889 PPFIA1 LTO1 FADD ANO1 HSALNG0085430 SHANK2
GH11J070232 Enhancer 1.1 FANTOM5 ENCODE 15.9 -164.6 -164648 1.7 ZNF580 JUND NFIC CEBPB DEK MAX ZBTB7B ZNF217 EP300 MBD2 PPFIA1 CTTN FADD ENSG00000254721 ENSG00000255539 ANO1-AS1 ENSG00000246889 ANO1 lnc-SHANK2-8 piR-30444-053
GH11J070106 Enhancer 1 Ensembl CraniofacialAtlas dbSUPER 12.5 -292.1 -292056 1.3 ZNF341 ZBTB7B RXRA FOXA1 RAD21 HNF4A NFIB NCOA3 ZFP36 GATA2 LTO1 CTTN ANO1 LINC02584 ENSG00000255143 FADD
GH11J070616 Enhancer 0.8 Ensembl CraniofacialAtlas 12.3 +218.9 218897 0.6 PLRG1 HES1 CTBP1 NONO TEAD3 YBX1 ZNF512B ZBTB40 ARNT NFATC1 CTTN LTO1 SHANK2-AS1 ENSG00000279459 SHANK2
GH11J070423 Enhancer 1 Ensembl ENCODE 9.5 +26.4 26353 2.5 SP1 NCOR1 POLR2A BCL11A HES1 BHLHE40 MNT RUNX1 ZBTB33 EBF1 PPFIA1 CTTN HSALNG0085432 NONHSAG008926.2 SHANK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTTN on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the CTTN gene promoter:
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • POU6F1 (c2)

Genomic Locations for CTTN Gene

Latest Assembly
chr11:70,398,404-70,436,584
(GRCh38/hg38)
Size:
38,181 bases
Orientation:
Plus strand

Previous Assembly
chr11:70,244,635-70,282,681
(GRCh37/hg19 by Entrez Gene)
Size:
38,047 bases
Orientation:
Plus strand

chr11:70,244,510-70,282,690
(GRCh37/hg19 by Ensembl)
Size:
38,181 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr11(PATCHES):159,817-197,863 (+)

Genomic View for CTTN Gene

Genes around CTTN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CTTN Gene

Proteins for CTTN Gene

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

    Protein Symbol:
    Q14247-SRC8_HUMAN
    Recommended name:
    Src substrate cortactin
    Protein Accession:
    Q14247
    Secondary Accessions:
    • Q8N707
    • Q96H99

    Protein attributes for CTTN Gene

    Size:
    550 amino acids
    Molecular mass:
    61586 Da
    Quaternary structure:
    • Interacts with SHANK2 and SHANK3 (via its SH3 domain). Also interacts with FGD1. Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. Interacts with ABL2 (By similarity). Interacts with KCNA2 (via non-phosphorylated C-terminus) (PubMed:12151401). Interacts with PLXDC2 and SRCIN1. Interacts with SAMSN1 (via SH3 domain). Interacts (via SH3 domain) with ASAP1 (via Pro-rich region). Interacts (via SH3 domain) with DNM2 (By similarity). Interacts with ACTN1 (By similarity). Interacts with FER (PubMed:9722593). Forms a complex made of ABL1 and MYLK. Interacts with CTTNBP2NL; this interaction may target CTTN to stress fibers. Interacts with CTTNBP2; this interaction may target CTTN at the cell cortex or dendritic spines. Interacts with KCNH1 (PubMed:23144454). Interacts (via SH3 domain) with DIP2A (via N-terminus); the interaction enhances CTTN acetylation and is required for proper synaptic transmission (By similarity).

    Three dimensional structures from OCA and Proteopedia for CTTN Gene

    Alternative splice isoforms for CTTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTTN Gene

Post-translational modifications for CTTN Gene

  • Phosphorylated by PKN2 at both serine and threonine residues in a GTP-bound Rac1-dependent manner in hyaluronan-induced astrocytes and hence down-regulated CTTN ability to associates with filamentous actin (By similarity). Phosphorylated on tyrosine residues in response to CHRM1 activation (By similarity). Phosphorylated by PTK2/FAK1 in response to cell adhesion (By similarity). Phosphorylated by FER. Tyrosine phosphorylation in transformed cells may contribute to cellular growth regulation and transformation. Phosphorylated in response to FGR activation. Phosphorylation by SRC promotes MYLK binding.
  • Ubiquitination at Lys87, Lys124, Lys161, Lys171, Lys181, Lys208, Lys235, and Lys272
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for CTTN Gene

Domains & Families for CTTN Gene

Gene Families for CTTN Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CTTN Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Hs1/Cortactin

Suggested Antigen Peptide Sequences for CTTN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54828, highly similar to Src substrate cortactin (B4E358_HUMAN)
  • Cortactin (Q76MU0_HUMAN)
  • cDNA FLJ77423, highly similar to Homo sapiens cortactin (CTTN), transcript variant 2, mRNA (Q96H99_HUMAN)
  • Oncogene EMS1 (SRC8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14247

UniProtKB/Swiss-Prot:

SRC8_HUMAN :
  • The SH3 motif may mediate binding to the cytoskeleton.
Domain:
  • The SH3 motif may mediate binding to the cytoskeleton.
genes like me logo Genes that share domains with CTTN: view

Function for CTTN Gene

Molecular function for CTTN Gene

UniProtKB/Swiss-Prot Function:
Contributes to the organization of the actin cytoskeleton and cell shape (PubMed:21296879). Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with CTTNBP2, involved in the regulation of neuronal spine density (By similarity). Plays a role in the invasiveness of cancer cells, and the formation of metastases (PubMed:16636290). Plays a role in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement (PubMed:20861316). Plays a role in intracellular protein transport and endocytosis, and in modulating the levels of potassium channels present at the cell membrane (PubMed:17959782). Plays a role in receptor-mediated endocytosis via clathrin-coated pits (By similarity). Required for stabilization of KCNH1 channels at the cell membrane (PubMed:23144454).

Phenotypes From GWAS Catalog for CTTN Gene

Gene Ontology (GO) - Molecular Function for CTTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 15169891
GO:0005522 profilin binding IPI 24700464
GO:0045296 cadherin binding HDA 25468996
GO:0051015 actin filament binding IBA 21873635
genes like me logo Genes that share ontologies with CTTN: view
genes like me logo Genes that share phenotypes with CTTN: view

Animal Models for CTTN Gene

MGI Knock Outs for CTTN:
  • Cttn Cttn<tm1.2Dvst>
  • Cttn Cttn<tm1.2Okab>
  • Cttn Cttn<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTTN

Clone products for research

  • Addgene plasmids for CTTN

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

Localization for CTTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTTN Gene

Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle. Cell projection, dendrite. Cell projection. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Cell projection, podosome. Cell junction. Cell junction, focal adhesion. Membrane, clathrin-coated pit. Cell projection, dendritic spine. Cytoplasm, cell cortex. Note=Colocalizes transiently with PTK2/FAK1 at focal adhesions (By similarity). Associated with membrane ruffles and lamellipodia. In the presence of CTTNBP2NL, colocalizes with stress fibers (By similarity). In the presence of CTTNBP2, localizes at the cell cortex (By similarity). In response to neuronal activation by glutamate, redistributes from dendritic spines to the dendritic shaft (By similarity). Colocalizes with DNM2 at the basis of filopodia in hippocampus neuron growth zones (By similarity). {ECO:0000250 UniProtKB:Q60598, ECO:0000250 UniProtKB:Q66HL2}.

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 CTTN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
golgi apparatus 4
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0002102 podosome IEA --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CTTN: view

Pathways & Interactions for CTTN Gene

genes like me logo Genes that share pathways with CTTN: view

Pathways by source for CTTN Gene

3 GeneGo (Thomson Reuters) pathways for CTTN Gene
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Development Slit-Robo signaling
  • Neurophysiological process Receptor-mediated axon growth repulsion
2 Qiagen pathways for CTTN Gene
  • Agrin Interactions at Neuromuscular Junction
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for CTTN Gene

SIGNOR curated interactions for CTTN Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CTTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA,IMP 17959782
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis ISS --
GO:0006930 substrate-dependent cell migration, cell extension IEA --
GO:0030041 actin filament polymerization IEA --
genes like me logo Genes that share ontologies with CTTN: view

Drugs & Compounds for CTTN Gene

(14) Drugs for CTTN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for CTTN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTTN: view

Transcripts for CTTN Gene

mRNA/cDNA for CTTN Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTTN

Clone products for research

  • Addgene plasmids for CTTN

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ·
SP1: - - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - -
SP5: -
SP6: - -
SP7:
SP8:

ExUns: 18c · 18d ^ 19 ^ 20
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CTTN Gene

GeneLoc Exon Structure for
CTTN

Expression for CTTN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTTN Gene

Protein differential expression in normal tissues from HIPED for CTTN Gene

This gene is overexpressed in Nasal epithelium (13.1), Bone marrow stromal cell (11.0), and Platelet (8.0).

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



Protein tissue co-expression partners for CTTN Gene

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

SOURCE GeneReport for Unigene cluster for CTTN Gene:

Hs.596164

Evidence on tissue expression from TISSUES for CTTN Gene

  • Liver(4.6)
  • Blood(4.6)
  • Skin(4.4)
  • Nervous system(4.4)
  • Intestine(3.4)
  • Lung(3.4)
  • Kidney(3.2)
  • Heart(3.2)
  • Muscle(2.9)
  • Stomach(2.8)
  • Pancreas(2.7)
  • Spleen(2.7)
  • Lymph node(2.6)
  • Adrenal gland(2.6)
  • Thyroid gland(2.5)
  • Eye(2.2)
  • Bone(2)
genes like me logo Genes that share expression patterns with CTTN: view

Primer products for research

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

Orthologs for CTTN Gene

This gene was present in the common ancestor of animals.

Orthologs for CTTN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTTN 29
  • 95.21 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CTTN 30
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CTTN 29 30
  • 87.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cttn 29 16 30
  • 86.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cttn 29
  • 85.85 (n)
Cow
(Bos Taurus)
Mammalia CTTN 29 30
  • 85.44 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CTTN 29 30
  • 77.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTTN 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cttn 29
  • 71.92 (n)
Str.1561 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.6493 29
Zebrafish
(Danio rerio)
Actinopterygii cttn 29 30
  • 70.72 (n)
OneToOne
zgc66325 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004625 29
  • 55.23 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Cortactin 29 30
  • 53.56 (n)
OneToMany
Species where no ortholog for CTTN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CTTN Gene

ENSEMBL:
Gene Tree for CTTN (if available)
TreeFam:
Gene Tree for CTTN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTTN: view image
Alliance of Genome Resources:
Additional Orthologs for CTTN

Paralogs for CTTN Gene

Paralogs for CTTN Gene

(4) SIMAP similar genes for CTTN Gene using alignment to 8 proteins:

  • SRC8_HUMAN
  • B4E358_HUMAN
  • E9PKG3_HUMAN
  • E9PP90_HUMAN
  • H0YCD9_HUMAN
  • H0YEV2_HUMAN
  • H7BYK6_HUMAN
  • H7C314_HUMAN
genes like me logo Genes that share paralogs with CTTN: view

Variants for CTTN Gene

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

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs138763797 Benign: not provided 70,433,669(+) C/T
NM_005231.4(CTTN):c.1467C>T (p.Tyr489=)
SYNONYMOUS
rs141314124 Likely Benign: not provided 70,425,393(+) T/G
NM_005231.4(CTTN):c.1019T>G (p.Val340Gly)
MISSENSE
rs35955195 Benign: not provided 70,422,974(+) G/A
NM_005231.4(CTTN):c.936G>A (p.Val312=)
SYNONYMOUS
rs750640661 Likely Benign: not provided 70,417,032(+) C/T
NM_005231.4(CTTN):c.477C>T (p.Gly159=)
SYNONYMOUS
rs754487720 Likely Benign: not provided 70,435,559(+) G/A
NM_005231.4(CTTN):c.*397G>A
SYNONYMOUS_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CTTN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3579737 CNV loss 25503493
esv3579739 CNV loss 25503493
nsv478998 CNV novel sequence insertion 20440878

Variation tolerance for CTTN Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTTN Gene

Human Gene Mutation Database (HGMD)
CTTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTTN
Leiden Open Variation Database (LOVD)
CTTN

SNP Genotyping and Copy Number Assays for research

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

Disorders for CTTN Gene

MalaCards: The human disease database

(19) MalaCards diseases for CTTN Gene - From: COP and GCD

Disorder Aliases PubMed IDs
ethmoid sinus adenocarcinoma
  • adenocarcinoma of ethmoid sinus
wiskott-aldrich syndrome
  • was
ampulla of vater adenocarcinoma
  • adenocarcinoma of ampulla of vater
squamous cell carcinoma
  • epidermoid carcinoma
larynx cancer
  • laryngeal carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search CTTN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTTN

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CTTN: view

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

Publications for CTTN Gene

  1. A common cortactin gene variation confers differential susceptibility to severe asthma. (PMID: 18521921) Ma SF … Garcia JG (Genetic epidemiology 2008) 3 22 40
  2. An essential role for cortactin in the modulation of the potassium channel Kv1.2. (PMID: 17959782) Williams MR … Morielli AD (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22
  3. Targeting AMAP1 and cortactin binding bearing an atypical src homology 3/proline interface for prevention of breast cancer invasion and metastasis. (PMID: 16636290) Hashimoto S … Sabe H (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22
  4. Novel interaction of cortactin with endothelial cell myosin light chain kinase. (PMID: 12408982) Dudek SM … Garcia JG (Biochemical and biophysical research communications 2002) 3 4 22
  5. Amplified region of chromosome band 11q13 in breast and squamous cell carcinomas encompasses three CpG islands telomeric of FGF3, including the expressed gene EMS1. (PMID: 7685625) Brookes S … Peters G (Genes, chromosomes & cancer 1993) 2 3 22

Products for CTTN Gene

Sources for CTTN Gene