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Aliases for ANLN Gene

Aliases for ANLN Gene

  • Anillin Actin Binding Protein 2 3 5
  • Anillin, Actin Binding Protein (Scraps Homolog, Drosophila) 2
  • Anillin (Drosophila Scraps Homolog), Actin Binding Protein 2
  • Actin-Binding Protein Anillin 3
  • Anillin 3
  • Scraps 3
  • FSGS8 3
  • Scra 3

External Ids for ANLN Gene

Previous GeneCards Identifiers for ANLN Gene

  • GC07P036076
  • GC07P036170
  • GC07P036202
  • GC07P036395
  • GC07P036309

Summaries for ANLN Gene

Entrez Gene Summary for ANLN Gene

  • This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

GeneCards Summary for ANLN Gene

ANLN (Anillin Actin Binding Protein) is a Protein Coding gene. Diseases associated with ANLN include Focal Segmental Glomerulosclerosis 8 and Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. Among its related pathways are Retinoblastoma (RB) in Cancer. GO annotations related to this gene include actin binding.

UniProtKB/Swiss-Prot for ANLN Gene

  • Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. May play a significant role in podocyte cell migration (PubMed:24676636).

Gene Wiki entry for ANLN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANLN Gene

Genomics for ANLN Gene

Regulatory Elements for ANLN Gene

Enhancers for ANLN 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
GH07G036366 1 ENCODE 13.1 -22.8 -22763 1.7 ATF1 CREB3L1 ARID4B SIN3A BRCA1 ZNF48 YY1 ETS1 GLIS2 ZNF207 KIAA0895 ANLN ENSG00000201432 GC07M036337
GH07G036347 0.7 ENCODE 10.8 -41.9 -41887 1.2 DPF2 KLF4 MNT ZKSCAN1 FOXA1 GATA3 JUND PRDM6 CTBP1 CREB1 KIAA0895 ANLN GC07M036337 ENSG00000201432
GH07G036458 0.4 ENCODE 10.2 +69.6 69576 1.1 NRF1 HMBOX1 KIAA0895 ANLN ENSG00000237400
GH07G036880 0.2 ENCODE 4.4 +491.7 491720 1.0 MIR1200 ANLN LOC105375235 ENSG00000230831
GH07G036349 1 ENCODE 0.3 -40.0 -39957 0.2 HDGF SIN3A DMAP1 ZNF48 ZNF121 ELK1 ZNF143 FOS KLF13 DEK GC07M036337 ENSG00000201432 ANLN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANLN on UCSC Golden Path with GeneCards custom track

Promoters for ANLN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000210913 697 2201 HDGF MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207

Genomic Location for ANLN Gene

Chromosome:
7
Start:
36,389,803 bp from pter
End:
36,453,791 bp from pter
Size:
63,989 bases
Orientation:
Plus strand

Genomic View for ANLN Gene

Genes around ANLN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ANLN Gene

Proteins for ANLN Gene

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

    Protein Symbol:
    Q9NQW6-ANLN_HUMAN
    Recommended name:
    Anillin
    Protein Accession:
    Q9NQW6
    Secondary Accessions:
    • Q5CZ78
    • Q6NSK5
    • Q9H8Y4
    • Q9NVN9
    • Q9NVP0

    Protein attributes for ANLN Gene

    Size:
    1124 amino acids
    Molecular mass:
    124199 Da
    Quaternary structure:
    • Interacts with F-actin. Interacts with CD2AP. May interact with RHOA. Interacts with FZR1/CDH1 during mitotic exit.
    SequenceCaution:
    • Sequence=AAH34692.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91710.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91711.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANLN Gene

    Alternative splice isoforms for ANLN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANLN Gene

Post-translational modifications for ANLN Gene

No data available for DME Specific Peptides for ANLN Gene

Domains & Families for ANLN Gene

Gene Families for ANLN Gene

Protein Domains for ANLN Gene

Suggested Antigen Peptide Sequences for ANLN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANLN: view

No data available for UniProtKB/Swiss-Prot for ANLN Gene

Function for ANLN Gene

Molecular function for ANLN Gene

UniProtKB/Swiss-Prot Function:
Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. May play a significant role in podocyte cell migration (PubMed:24676636).

Gene Ontology (GO) - Molecular Function for ANLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 10931866
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with ANLN: view
genes like me logo Genes that share phenotypes with ANLN: view

Human Phenotype Ontology for ANLN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ANLN Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ANLN
  • Applied Biological Materials Clones for ANLN

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANLN Gene

Localization for ANLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANLN Gene

Nucleus. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Mainly found in the nucleus during interphase. Colocalizes with cortical F-actin upon nuclear envelope breakdown in mitosis and subsequently concentrates in the area of the prospective contractile ring in anaphase. This pattern persists until telophase, when the protein becomes concentrated in the midbody.

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 ANLN gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for ANLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005826 actomyosin contractile ring IDA 10931866
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ANLN: view

Pathways & Interactions for ANLN Gene

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

Pathways by source for ANLN Gene

1 BioSystems pathway for ANLN Gene

Gene Ontology (GO) - Biological Process for ANLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IDA 10931866
GO:0000921 septin ring assembly TAS 10931866
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with ANLN: view

No data available for SIGNOR curated interactions for ANLN Gene

Drugs & Compounds for ANLN Gene

No Compound Related Data Available

Transcripts for ANLN Gene

Unigene Clusters for ANLN Gene

Anillin, actin binding protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ANLN
  • Applied Biological Materials Clones for ANLN

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d · 9e ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ·
SP1: -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7: -
SP8: -
SP9:
SP10: - - -
SP11: - -
SP12: - -
SP13:
SP14: - -
SP15: -
SP16: - -
SP17: - -
SP18: -
SP19:
SP20:

ExUns: 12c · 12d ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b
SP1:
SP2:
SP3: -
SP4: - -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for ANLN Gene

GeneLoc Exon Structure for
ANLN
ECgene alternative splicing isoforms for
ANLN

Expression for ANLN Gene

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

mRNA differential expression in normal tissues according to GTEx for ANLN Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x14.7), Brain - Substantia nigra (x8.0), and Brain - Hippocampus (x5.4).

Protein differential expression in normal tissues from HIPED for ANLN Gene

This gene is overexpressed in Blymphocyte (44.4) and Platelet (8.3).

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



NURSA nuclear receptor signaling pathways regulating expression of ANLN Gene:

ANLN

SOURCE GeneReport for Unigene cluster for ANLN Gene:

Hs.62180

mRNA Expression by UniProt/SwissProt for ANLN Gene:

Q9NQW6-ANLN_HUMAN
Tissue specificity: Ubiquitously expressed. Present at highest levels in the brain, at high levels in the placenta and testis, at intermediate levels in the intestine, ovary, skeletal muscle and thymus and at lower levels in heart, kidney, liver, lung, pancreas, prostate and spleen. In the kidney, it is widely expressed in tubules, but sparsely expressed in the glomerulus (PubMed:24676636). Expression is significantly increased in renal biopsy specimens from idiopathic FSGS (PubMed:24676636). Overexpressed in many tumor types including breast, colorectal, endometrial, hepatic, kidney, lung, ovarian and pancreatic tumors.

Evidence on tissue expression from TISSUES for ANLN Gene

  • Nervous system(4.9)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANLN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • respiratory
  • urinary
Organs:
Thorax:
  • lung
Abdomen:
  • kidney
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ANLN: view

Primer Products

No data available for Protein tissue co-expression partners for ANLN Gene

Orthologs for ANLN Gene

This gene was present in the common ancestor of animals.

Orthologs for ANLN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANLN 34 35
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia ANLN 34 35
  • 89.93 (n)
cow
(Bos Taurus)
Mammalia ANLN 34 35
  • 89.39 (n)
mouse
(Mus musculus)
Mammalia Anln 34 16 35
  • 83.15 (n)
rat
(Rattus norvegicus)
Mammalia Anln 34
  • 81.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANLN 35
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANLN 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANLN 34 35
  • 69.76 (n)
lizard
(Anolis carolinensis)
Reptilia ANLN 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491625 34
  • 64.36 (n)
Str.7526 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398569 34
zebrafish
(Danio rerio)
Actinopterygii anln 34 35
  • 57.9 (n)
wufa12d06 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1959 34
fruit fly
(Drosophila melanogaster)
Insecta scra 36 35
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea ani-3 35
  • 21 (a)
OneToMany
ani-1 35
  • 17 (a)
OneToMany
ani-2 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10671 35
  • 39 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4355 34
Species where no ortholog for ANLN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 ANLN Gene

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

Paralogs for ANLN Gene

(1) SIMAP similar genes for ANLN Gene using alignment to 9 proteins:

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

No data available for Paralogs for ANLN Gene

Variants for ANLN Gene

Sequence variations from dbSNP and Humsavar for ANLN Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs587777741 Pathogenic, Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032] 36,411,062(+) AGGAA(C/T)GTCAA reference, missense
VAR_072419 Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032]
rs201613256 Uncertain significance 36,410,555(+) GAGAG(C/T)GTTGT reference, missense
rs197367 Benign 36,406,247(+) TCCCA(A/G)ACCTC reference, missense
rs3815484 Benign 36,427,046(+) TATTT(A/C)TAAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv189n73 CNV deletion 24416366
esv2657144 CNV deletion 23128226
esv2734254 CNV deletion 23290073
esv3280385 CNV deletion 24192839
esv3306077 CNV mobile element insertion 20981092
esv3410200 CNV insertion 20981092
esv3541483 CNV deletion 23714750
esv3612834 CNV loss 21293372
nsv1143343 CNV deletion 24896259
nsv511959 CNV loss 21212237
nsv521965 CNV loss 19592680

Variation tolerance for ANLN Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.14; 96.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANLN Gene

Human Gene Mutation Database (HGMD)
ANLN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANLN

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

Disorders for ANLN Gene

MalaCards: The human disease database

(3) MalaCards diseases for ANLN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
focal segmental glomerulosclerosis 8
  • fsgs8
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
focal segmental glomerulosclerosis
  • fgs
- elite association - COSMIC cancer census association via MalaCards
Search ANLN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANLN_HUMAN
  • Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269 PubMed:24676636}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ANLN

Genetic Association Database (GAD)
ANLN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANLN
genes like me logo Genes that share disorders with ANLN: view

No data available for Genatlas for ANLN Gene

Publications for ANLN Gene

  1. Functional analysis of a human homolog of the Drosophila actin binding protein anillin suggests a role in cytokinesis. (PMID: 10931866) Oegema K. … Field C.M. (J. Cell Biol. 2000) 2 3 4 22 64
  2. MgcRacGAP controls the assembly of the contractile ring and the initiation of cytokinesis. (PMID: 16129829) Zhao W.-M. … Fang G. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64
  3. Anillin binds nonmuscle myosin II and regulates the contractile ring. (PMID: 15496454) Straight A.F. … Mitchison T.J. (Mol. Biol. Cell 2005) 3 4 22 64
  4. Ablation of PRC1 by small interfering RNA demonstrates that cytokinetic abscission requires a central spindle bundle in mammalian cells, whereas completion of furrowing does not. (PMID: 15616196) Mollinari C. … Margolis R.L. (Mol. Biol. Cell 2005) 3 4 22 64
  5. Anillin is a substrate of anaphase-promoting complex/cyclosome (APC/C) that controls spatial contractility of myosin during late cytokinesis. (PMID: 16040610) Zhao W.-M. … Fang G. (J. Biol. Chem. 2005) 3 4 22 64

Products for ANLN Gene

  • Addgene plasmids for ANLN

Sources for ANLN Gene

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