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Aliases for CARMIL2 Gene

Aliases for CARMIL2 Gene

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

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. Diseases associated with CARMIL2 include Connective Tissue Benign Neoplasm. An important paralog of this gene is CARMIL3.

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 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
GH16F067545 1.5 FANTOM5 Ensembl ENCODE 15.2 -96.8 -96831 5.3 HDGF WRNIP1 ARID4B ZNF2 YY1 ZNF121 ZNF143 SP5 MIER2 REST HSD11B2 CARMIL2 E2F4 RANBP10 ATP6V0D1 FAM65A THAP11 ACD PARD6A ENSG00000262514
GH16F067550 1.1 Ensembl ENCODE 11.7 -90.8 -90786 6.3 ZFP64 ZNF493 ZNF121 KLF7 FOS ZNF202 ZNF263 REST ZNF518A ZNF623 ZDHHC1 ENSG00000260465 CENPT E2F4 ENKD1 ENSG00000263276 ACD ENSG00000270165 FBXL8 KIAA0895L
GH16F067600 0.9 Ensembl ENCODE 11.6 -43.5 -43499 0.9 INSM2 FEZF1 ZNF2 ZEB1 ZNF366 KLF7 ZNF391 ZNF362 ZEB2 ZNF518A ENSG00000260465 ZDHHC1 CARMIL2 PARD6A ACD FAM65A ATP6V0D1 THAP11 FBXL8 GC16P067601
GH16F067570 0.6 ENCODE 11.6 -73.0 -72986 2.1 ZNF362 JUND JUN FOS PRDM1 ATP6V0D1 ENSG00000237718 CARMIL2 ACD PARD6A FAM65A C16orf86 ENKD1 ZDHHC1 HSD11B2
GH16F067676 0.4 ENCODE 11.5 +32.8 32817 2.8 PKNOX1 KLF17 BMI1 RAD21 ZNF2 ZNF121 SCRT2 KLF7 ETV6 FOS CARMIL2 ENSG00000237718 GFOD2 LRRC36 DUS2 DPEP2 PIR36768 PIR62194
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000149203 281 801 HDGF ZFP64 ARID4B DMAP1 ZNF2 ZNF48 SLC30A9 ZNF121 ZNF143 KLF7

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:
    Capping protein, Arp2/3 and myosin-I linker protein 2
    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

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).

Gene Ontology (GO) - Molecular Function for CARMIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding IDA 26578515
GO:0032403 protein complex binding IDA 26466680
genes like me logo Genes that share ontologies with CARMIL2: view
genes like me logo Genes that share phenotypes with CARMIL2: view

Animal Models for CARMIL2 Gene

MGI Knock Outs for CARMIL2:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0001726 ruffle IDA 26466680
GO:0005737 cytoplasm IEA,IDA 19846667
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA,IDA 26578515
GO:0015629 actin cytoskeleton IDA 26578515
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

Gene Ontology (GO) - Biological Process for CARMIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007163 establishment or maintenance of cell polarity IDA 19846667
GO:0010592 positive regulation of lamellipodium assembly IDA 26466680
GO:0016477 cell migration IEA --
GO:0030011 maintenance of cell polarity IEA --
GO:0030335 positive regulation of cell migration IDA 19846667
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

Transcripts for CARMIL2 Gene

Unigene Clusters for CARMIL2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

NURSA nuclear receptor signaling pathways regulating expression of CARMIL2 Gene:

CARMIL2

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.

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia RLTPR 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RLTPR 34 35
  • 88.83 (n)
mouse
(Mus musculus)
Mammalia Rltpr 34 35
  • 85.46 (n)
Carmil2 16
rat
(Rattus norvegicus)
Mammalia Rltpr 34
  • 84.64 (n)
dog
(Canis familiaris)
Mammalia RLTPR 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RLTPR 35
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RLTPR 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves RLTPR 34 35
  • 60.41 (n)
lizard
(Anolis carolinensis)
Reptilia RLTPR 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491722 34
  • 51.45 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-6e12.4 34
  • 53.74 (n)
RLTPR 35
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1399 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crml-1 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 13 (a)
ManyToMany
Species where no ortholog for CARMIL2 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 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
rs201441120 Pathogenic 67,657,847(+) CTTTG(G/T)GGGTT intron-variant, downstream-variant-500B, reference, missense
rs769736838 Uncertain significance 67,652,004(+) GGATC(A/C)GCTGG nc-transcript-variant, reference, missense
rs1050346 -- 67,657,647(-) ACTTT(C/T)TGATG downstream-variant-500B, reference, synonymous-codon
rs111443398 -- 67,654,081(+) CGGCC(A/G)GGGGG intron-variant
rs111656578 -- 67,654,090(+) GGGGG(-/T)GGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CARMIL2 Gene

Variant ID Type Subtype PubMed ID
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv952046 CNV deletion 24416366

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)

Relevant External Links for CARMIL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARMIL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARMIL2 Gene

Disorders for CARMIL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CARMIL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
connective tissue benign neoplasm
  • neoplasm of soft tissue
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CARMIL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARMIL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARMIL2
genes like me logo Genes that share disorders with CARMIL2: view

No data available for 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 22 64
  2. Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2. (PMID: 26578515) Lanier M.H. … Cooper J.A. (J. Biol. Chem. 2016) 2 3 4 64
  3. Distinct roles for CARMIL isoforms in cell migration. (PMID: 19846667) Liang Y. … Cooper J.A. (Mol. Biol. Cell 2009) 2 3 4 64
  4. 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 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for CARMIL2 Gene

Sources for CARMIL2 Gene

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