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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

Entrez Gene Summary for CARMIL2 Gene

  • This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

GeneCards Summary for CARMIL2 Gene

CARMIL2 (Capping Protein Regulator And Myosin 1 Linker 2) is a Protein Coding gene. Diseases associated with CARMIL2 include Infantile Myofibromatosis and 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).

Additional gene information for CARMIL2 Gene

No data available for CIViC 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
GH16H067545 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.2 -96.8 -96831 5 HDGF ARNT ARID4B ZNF2 YY1 ZNF143 RUNX3 SP5 REST MIER2 HSD11B2 CARMIL2 ATP6V0D1 RIPOR1 ACD PARD6A ENSG00000237718 C16orf86 ENKD1 DPEP2
GH16H067479 1.7 FANTOM5 ENCODE dbSUPER 11 -162.9 -162867 4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZDHHC1 ENKD1 NAE1 ATP6V0D1 EDC4 CENPT CTCF SLC7A6OS E2F4 ENSG00000260465
GH16H067555 1.5 Ensembl ENCODE dbSUPER 11.7 -88.6 -88611 1 ZNF493 ZFP64 ZNF121 FOS KLF7 ZNF202 ZC3H11A REST ZNF623 ZNF518A ZDHHC1 EDC4 CENPT ENSG00000260465 CTCF ENKD1 NAE1 E2F4 ENSG00000263276 ACD
GH16H067503 1.5 Ensembl ENCODE dbSUPER 11.1 -140.4 -140360 2 PKNOX1 ATF1 ARNT ZNF121 ZNF766 ELK1 FOS ATF7 SP5 ZNF592 ZDHHC1 HSD11B2 ATP6V0D1 ENSG00000260465 CTCF ENKD1 AGRP CENPT CARMIL2 NAE1
GH16H067486 1.4 Ensembl ENCODE dbSUPER 11 -155.4 -155391 6 HDAC1 HDGF PKNOX1 TBL1XR1 ZSCAN4 TCF12 CBX5 GATA2 ELK1 ATF7 ATP6V0D1 RIPOR1 LRRC36 CARMIL2 ZDHHC1 HSD11B2 ENSG00000237718 PARD6A ACD PRMT7
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000087161 81 401 ZFP64 ARID4B DMAP1 SLC30A9 ZNF143 ZNF207 RUNX3 MXD4 REST MIER2

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

Gene Families for CARMIL2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.
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.
genes like me logo Genes that share domains with CARMIL2: view

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).

Phenotypes From GWAS Catalog for CARMIL2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CARMIL2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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}.

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 CARMIL2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endosome 5
nucleus 3
cytosol 2

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 IDA,IEA 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 the Human Protein Atlas (HPA) 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

Drugs & Compounds for CARMIL2 Gene

No Compound Related Data Available

Transcripts for CARMIL2 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CARMIL2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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.

Evidence on tissue expression from TISSUES for CARMIL2 Gene

  • Skin(4.2)
  • Liver(4)
  • Blood(2)

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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RLTPR 34 33
  • 88.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rltpr 34 33
  • 85.46 (n)
OneToOne
Carmil2 16
rat
(Rattus norvegicus)
Mammalia Rltpr 33
  • 84.64 (n)
dog
(Canis familiaris)
Mammalia RLTPR 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RLTPR 34
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RLTPR 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves RLTPR 34 33
  • 60.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RLTPR 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491722 33
  • 51.45 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-6e12.4 33
  • 53.74 (n)
RLTPR 34
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1399 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crml-1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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
rs886041043 Pathogenic 67,646,737(+) CGAGG(-/G)CTCTG nc-transcript-variant, reference, frameshift-variant
rs886041044 Pathogenic 67,647,603(+) CCGAG(G/T)TATGA splice-donor-variant
rs769736838 Uncertain significance 67,652,004(+) GGATC(A/C)GCTGG nc-transcript-variant, reference, missense
rs1000054587 -- 67,644,222(+) TTGGG(G/T)TTCAG upstream-variant-2KB

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

Human Gene Mutation Database (HGMD)
CARMIL2
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

(2) MalaCards diseases for CARMIL2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
infantile myofibromatosis
  • myofibromatosis
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 60
  2. Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2. (PMID: 26578515) Lanier MH … Cooper JA (The Journal of biological chemistry 2016) 2 3 4 60
  3. Distinct roles for CARMIL isoforms in cell migration. (PMID: 19846667) Liang Y … Cooper JA (Molecular biology of the cell 2009) 2 3 4 60
  4. CARMIL2 is a novel molecular connection between vimentin and actin essential for cell migration and invadopodia formation. (PMID: 26466680) Lanier MH … Cooper JA (Molecular biology of the cell 2015) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for CARMIL2 Gene

Sources for CARMIL2 Gene

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