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Aliases for CARMIL3 Gene

Aliases for CARMIL3 Gene

  • Capping Protein Regulator And Myosin 1 Linker 3 2 3 5
  • Capping Protein Regulator And Myosin 1 Linker Protein 3 3 4
  • Leucine-Rich Repeat-Containing Protein 16B 3 4
  • Leucine Rich Repeat Containing 16B 2 3
  • C14orf121 3 4
  • LRRC16B 3 4
  • Capping Protein, Arp2/3 And Myosin-I Linker Protein 3 3
  • Chromosome 14 Open Reading Frame 121 2
  • Crml-1 3

External Ids for CARMIL3 Gene

Previous HGNC Symbols for CARMIL3 Gene

  • C14orf121
  • LRRC16B

Previous GeneCards Identifiers for CARMIL3 Gene

  • GC14P024052
  • GC14P024066

Summaries for CARMIL3 Gene

GeneCards Summary for CARMIL3 Gene

CARMIL3 (Capping Protein Regulator And Myosin 1 Linker 3) is a Protein Coding gene. An important paralog of this gene is CARMIL2.

Additional gene information for CARMIL3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARMIL3 Gene

Genomics for CARMIL3 Gene

GeneHancer (GH) Regulatory Elements for CARMIL3 Gene

Promoters and enhancers for CARMIL3 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
GH14I024051 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 556.1 +0.1 55 1.3 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ELK1 ZNF207 KLF7 SP3 SP5 CARMIL3 DHRS4L1 LOC105370412
GH14I024053 Enhancer 0.5 ENCODE 550.8 +1.4 1380 0.1 ZFHX2 EGR1 IKZF1 NR2F6 EGR2 CARMIL3 LOC105370412
GH14I024091 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.9 +41.7 41650 6.5 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 PCK2 RNA5SP383 NGDN ACIN1 NYNRIN NFATC4 KHNYN IPO4 SLC7A8 TINF2
GH14I024080 Promoter/Enhancer 1.4 Ensembl ENCODE 12.9 +29.4 29443 1.8 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF48 SLC30A9 GLIS2 KLF7 ATF7 CARMIL3 PSME2 RNF31 IPO4 TM9SF1 REC8 EMC9 PCK2 CPNE6 NRL
GH14I024108 Enhancer 1.2 Ensembl ENCODE 12 +56.9 56861 1.5 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 EMC9 CPNE6 CARMIL3 FITM1 PSME1 IRF9 RNF31 PSME2 TM9SF1 ENSG00000254692
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CARMIL3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CARMIL3 Gene

Genomic Locations for CARMIL3 Gene
chr14:24,051,997-24,069,728
(GRCh38/hg38)
Size:
17,732 bases
Orientation:
Plus strand
chr14:24,521,206-24,538,937
(GRCh37/hg19)

Genomic View for CARMIL3 Gene

Genes around CARMIL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARMIL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARMIL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARMIL3 Gene

Proteins for CARMIL3 Gene

  • Protein details for CARMIL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8ND23-CARL3_HUMAN
    Recommended name:
    Capping protein, Arp2/3 and myosin-I linker protein 3
    Protein Accession:
    Q8ND23
    Secondary Accessions:
    • Q8TEF7
    • Q96HS9

    Protein attributes for CARMIL3 Gene

    Size:
    1372 amino acids
    Molecular mass:
    150230 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB84993.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CARMIL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARMIL3 Gene

Post-translational modifications for CARMIL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CARMIL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CARMIL3 Gene

Domains & Families for CARMIL3 Gene

Gene Families for CARMIL3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CARMIL3 Gene

Suggested Antigen Peptide Sequences for CARMIL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8ND23

UniProtKB/Swiss-Prot:

CARL3_HUMAN :
  • The C-terminus is necessary for localization to the cell membrane (PubMed:26578515).
  • Belongs to the CARMIL family.
Domain:
  • 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 CARMIL3: view

Function for CARMIL3 Gene

genes like me logo Genes that share phenotypes with CARMIL3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CARMIL3 Gene

Localization for CARMIL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARMIL3 Gene

Cytoplasm. Cell membrane.

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 CARMIL3 gene
Compartment Confidence
plasma membrane 5
nucleus 3

Gene Ontology (GO) - Cellular Components for CARMIL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA,IEA 26578515
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CARMIL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CARMIL3 Gene

Pathways & Interactions for CARMIL3 Gene

SuperPathways for CARMIL3 Gene

No Data Available

Interacting Proteins for CARMIL3 Gene

Selected Interacting proteins: Q8ND23-CARL3_HUMAN for CARMIL3 Gene via IID

Symbol External ID(s) Details
RNASE2

Gene Ontology (GO) - Biological Process for CARMIL3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CARMIL3 Gene

Drugs & Compounds for CARMIL3 Gene

No Compound Related Data Available

Transcripts for CARMIL3 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CARMIL3 Gene

No ASD Table

Relevant External Links for CARMIL3 Gene

GeneLoc Exon Structure for
CARMIL3
ECgene alternative splicing isoforms for
CARMIL3

Expression for CARMIL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CARMIL3 Gene:

CARMIL3

mRNA Expression by UniProt/SwissProt for CARMIL3 Gene:

Q8ND23-CARL3_HUMAN
Tissue specificity: Widely expressed, with much higher levels in fetal tissues than in adult ones. Up-regulated in certain cancer tissues.

Evidence on tissue expression from TISSUES for CARMIL3 Gene

  • Nervous system(4.2)
  • Spleen(4)

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 CARMIL3 Gene

Orthologs for CARMIL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CARMIL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC16B 33 34
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia LRRC16B 33 34
  • 91.84 (n)
cow
(Bos Taurus)
Mammalia LRRC16B 33 34
  • 91.55 (n)
mouse
(Mus musculus)
Mammalia Lrrc16b 33 34
  • 89.93 (n)
Carmil3 16
rat
(Rattus norvegicus)
Mammalia Lrrc16b 33
  • 89.79 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC101749117 33
  • 64.72 (n)
LRRC16B 34
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC16B 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc16b 33
  • 56.98 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537031 33
  • 59.3 (n)
LRRC16B 34
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1399 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crml-1 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
ManyToMany
Species where no ortholog for CARMIL3 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 CARMIL3 Gene

ENSEMBL:
Gene Tree for CARMIL3 (if available)
TreeFam:
Gene Tree for CARMIL3 (if available)

Paralogs for CARMIL3 Gene

Paralogs for CARMIL3 Gene

genes like me logo Genes that share paralogs with CARMIL3: view

Variants for CARMIL3 Gene

Sequence variations from dbSNP and Humsavar for CARMIL3 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000063852 -- 24,062,143(+) C/G intron_variant
rs1000122181 -- 24,050,612(+) A/C upstream_transcript_variant
rs1000516122 -- 24,054,402(+) G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000518143 -- 24,061,867(+) G/A intron_variant
rs1000736951 -- 24,062,784(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CARMIL3 Gene

Variant ID Type Subtype PubMed ID
dgv1848n100 CNV gain 25217958
nsv1036658 CNV loss 25217958
nsv1043854 CNV gain 25217958
nsv1052180 CNV loss 25217958
nsv516023 CNV loss 19592680
nsv564047 CNV loss 21841781
nsv564057 CNV loss 21841781
nsv983808 CNV duplication 23825009

Variation tolerance for CARMIL3 Gene

Residual Variation Intolerance Score: 4.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.34; 95.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CARMIL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARMIL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARMIL3 Gene

Disorders for CARMIL3 Gene

No disorders were found for CARMIL3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CARMIL3 Gene

Publications for CARMIL3 Gene

  1. Distinct roles for CARMIL isoforms in cell migration. (PMID: 19846667) Liang Y … Cooper JA (Molecular biology of the cell 2009) 2 3 4 58
  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) 3 4 58
  3. Identifying LRRC16B as an oncofetal gene with transforming enhancing capability using a combined bioinformatics and experimental approach. (PMID: 21102520) Hsu CC … Ho CL (Oncogene 2011) 3 4 58
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for CARMIL3 Gene

Sources for CARMIL3 Gene

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