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Aliases for CARMIL2 Gene

Aliases for CARMIL2 Gene

  • Capping Protein Regulator And Myosin 1 Linker 2 2 3
  • RGD Motif, Leucine Rich Repeats, Tropomodulin Domain And Proline-Rich Containing 2 3 5
  • RLTPR 3 4 5
  • RGD, Leucine-Rich Repeat, Tropomodulin And Proline-Rich-Containing Protein 3 4
  • Capping Protein, Arp2/3 And Myosin-I Linker Protein 2 3 4
  • Leucine-Rich Repeat-Containing Protein 16C 3 4
  • Leucine Rich Repeat Containing 16C 2 3
  • LRRC16C 3 4
  • RGD, Leucine-Rich Repeat, Tropomodulin And Proline-Rich Containing Protein 3
  • Tropomodulin And Proline-Rich Containing Protein 2
  • Leucine-Rich Repeat 2
  • CARMIL2b 3
  • RGD 2

External Ids for CARMIL2 Gene

Previous HGNC Symbols for CARMIL2 Gene

  • RLTPR

Summaries for CARMIL2 Gene

GeneCards Summary for CARMIL2 Gene

CARMIL2 (Capping Protein Regulator And Myosin 1 Linker 2) is a Protein Coding gene. An important paralog of this gene is LRRC16A.

UniProtKB/Swiss-Prot for CARMIL2 Gene

  • Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization (PubMed:26466680). Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations (PubMed:19846667, PubMed:26578515, PubMed:26466680). Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26578515, PubMed:26466680).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARMIL2 Gene

Genomics for CARMIL2 Gene

Regulatory Elements for CARMIL2 Gene

Enhancers for CARMIL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CARMIL2 on UCSC Golden Path with GeneCards custom track

Promoters for CARMIL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CARMIL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CARMIL2 Gene

Chromosome:
16
Start:
67,644,919 bp from pter
End:
67,657,569 bp from pter
Size:
12,651 bases
Orientation:
Plus strand

Genomic View for CARMIL2 Gene

Genes around CARMIL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARMIL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARMIL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARMIL2 Gene

Proteins for CARMIL2 Gene

  • Protein details for CARMIL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6F5E8-CARL2_HUMAN
    Recommended name:
    F-actin-uncapping protein RLTPR
    Protein Accession:
    Q6F5E8
    Secondary Accessions:
    • B8X2Z3

    Protein attributes for CARMIL2 Gene

    Size:
    1435 amino acids
    Molecular mass:
    154689 Da
    Quaternary structure:
    • Isoform 2: Interacts (via C-terminus) with heterodimeric capping protein (CP); the interaction inhibits CP activity and hence promotes actin polymerization at the barbed end of actin filaments (PubMed:26466680).
    SequenceCaution:
    • Sequence=BAD26751.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CARMIL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARMIL2 Gene

Proteomics data for CARMIL2 Gene at MOPED

Post-translational modifications for CARMIL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CARMIL2 Gene

No data available for DME Specific Peptides for CARMIL2 Gene

Domains & Families for CARMIL2 Gene

Protein Domains for CARMIL2 Gene

Suggested Antigen Peptide Sequences for CARMIL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6F5E8

UniProtKB/Swiss-Prot:

CARL2_HUMAN :
  • The N-terminal leucine-rich repeat (LRR) domain is necessary for localization to vimentin filaments (PubMed:26466680). The C-terminus is necessary for localization to the cell membrane (PubMed:26578515).
  • Belongs to the CARMIL family.
  • Contains 16 LRR (leucine-rich) repeats.
Domain:
  • The N-terminal leucine-rich repeat (LRR) domain is necessary for localization to vimentin filaments (PubMed:26466680). The C-terminus is necessary for localization to the cell membrane (PubMed:26578515).
Family:
  • Belongs to the CARMIL family.
Similarity:
  • Contains 16 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with CARMIL2: view

No data available for Gene Families for CARMIL2 Gene

Function for CARMIL2 Gene

Molecular function for CARMIL2 Gene

UniProtKB/Swiss-Prot Function:
Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization (PubMed:26466680). Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations (PubMed:19846667, PubMed:26578515, PubMed:26466680). Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26578515, PubMed:26466680).
genes like me logo Genes that share phenotypes with CARMIL2: view

Animal Models for CARMIL2 Gene

MGI Knock Outs for CARMIL2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CARMIL2 Gene

Localization for CARMIL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARMIL2 Gene

Isoform 2: Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium. Cell projection, ruffle. Note=Colocalizes to dynamic vimentin filaments both in the central cytoplasm and at leading edges of migrating cells (PubMed:26578515, PubMed:26466680, PubMed:19846667). Colocalizes with F-actin, Arp2/3 complex and cortactin to leading edge lamellipodia, ruffles and macropinosomes of migrating cells (PubMed:26578515). {ECO:0000269 PubMed:19846667, ECO:0000269 PubMed:26466680, ECO:0000269 PubMed:26578515}.

Gene Ontology (GO) - Cellular Components for CARMIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 19846667
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane NAS 26578515
GO:0045111 intermediate filament cytoskeleton IDA 19846667
genes like me logo Genes that share ontologies with CARMIL2: view

No data available for Subcellular locations from COMPARTMENTS for CARMIL2 Gene

Pathways & Interactions for CARMIL2 Gene

SuperPathways for CARMIL2 Gene

No Data Available

Interacting Proteins for CARMIL2 Gene

Gene Ontology (GO) - Biological Process for CARMIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016477 cell migration IEA --
GO:0030011 maintenance of cell polarity IEA --
GO:0045184 establishment of protein localization IEA --
GO:0045591 positive regulation of regulatory T cell differentiation IEA --
GO:0048872 homeostasis of number of cells IEA --
genes like me logo Genes that share ontologies with CARMIL2: view

No data available for Pathways by source and SIGNOR curated interactions for CARMIL2 Gene

Drugs & Compounds for CARMIL2 Gene

No Compound Related Data Available

Transcripts for CARMIL2 Gene

Unigene Clusters for CARMIL2 Gene

RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CARMIL2 Gene

No ASD Table

Relevant External Links for CARMIL2 Gene

GeneLoc Exon Structure for
CARMIL2
ECgene alternative splicing isoforms for
CARMIL2

Expression for CARMIL2 Gene

SOURCE GeneReport for Unigene cluster for CARMIL2 Gene Hs.611432

mRNA Expression by UniProt/SwissProt for CARMIL2 Gene

Q6F5E8-CARL2_HUMAN
Tissue specificity: Expressed in all tissues tested, including thymus, spleen, colon, leukocytes, peripheral blood, skin, skin keratinocytes and skin fibroblasts.

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 and Protein tissue co-expression partners for CARMIL2 Gene

Orthologs for CARMIL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CARMIL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RLTPR 35
  • 88.83 (n)
  • 90.42 (a)
RLTPR 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rltpr 35
  • 85.46 (n)
  • 86.45 (a)
Rltpr 16
Rltpr 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rltpr 35
  • 84.64 (n)
  • 87.14 (a)
dog
(Canis familiaris)
Mammalia RLTPR 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RLTPR 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RLTPR 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RLTPR 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves RLTPR 35
  • 60.41 (n)
  • 51.63 (a)
RLTPR 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RLTPR 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491722 35
  • 51.45 (n)
  • 45.81 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-6e12.4 35
  • 53.74 (n)
  • 44.2 (a)
RLTPR 36
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1399 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crml-1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 13 (a)
ManyToMany
Species with no ortholog for CARMIL2:
  • 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 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)

Evolution for CARMIL2 Gene

ENSEMBL:
Gene Tree for CARMIL2 (if available)
TreeFam:
Gene Tree for CARMIL2 (if available)

Paralogs for CARMIL2 Gene

Paralogs for CARMIL2 Gene

Pseudogenes.org Pseudogenes for CARMIL2 Gene

genes like me logo Genes that share paralogs with CARMIL2: view

Variants for CARMIL2 Gene

Sequence variations from dbSNP and Humsavar for CARMIL2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs13332451 -- 67,654,449(+) GGTCC(A/C)CGGAC reference, synonymous-codon
rs60990105 -- 67,647,053(+) GGGGC(A/T)GCTGG intron-variant
rs78320020 -- 67,651,997(+) CAGCC(C/T)GGGAT reference, missense
rs78586794 -- 67,650,464(+) CTCCC(C/G/T)TCTCC intron-variant
rs78658330 -- 67,645,657(+) CCGGG(A/G)AGGCG intron-variant

Variation tolerance for CARMIL2 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.92% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for CARMIL2 Gene

Disorders for CARMIL2 Gene

Relevant External Links for CARMIL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARMIL2

No disorders were found for CARMIL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CARMIL2 Gene

Publications for CARMIL2 Gene

  1. Identification, expression analysis and polymorphism of a novel RLTPR gene encoding a RGD motif, tropomodulin domain and proline/leucine- rich regions. (PMID: 15588584) Matsuzaka Y. … Inoko H. (Gene 2004) 2 3 4 23 67
  2. Distinct roles for CARMIL isoforms in cell migration. (PMID: 19846667) Liang Y. … Cooper J.A. (Mol. Biol. Cell 2009) 2 3
  3. Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2. (PMID: 26578515) Lanier M.H. … Cooper J.A. (J. Biol. Chem. 2016) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. CARMIL2 is a novel molecular connection between vimentin and actin essential for cell migration and invadopodia formation. (PMID: 26466680) Lanier M.H. … Cooper J.A. (Mol. Biol. Cell 2015) 3

Products for CARMIL2 Gene

Sources for CARMIL2 Gene

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