Gene Gene information from NCBI Gene database.
Entrez ID 54443
Gene name Anillin, actin binding protein
Gene symbol ANLN
Synonyms (NCBI Gene)
FSGS8Scrapsscra
Chromosome 7
Chromosome location 7p14.2
Summary 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 as
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs587777741 C>T Pathogenic Coding sequence variant, missense variant
rs1184529372 G>C,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
234
miRTarBase ID miRNA Experiments Reference
MIRT000660 hsa-miR-424-5p Luciferase reporter assay 19956200
MIRT000651 hsa-miR-503-5p Luciferase reporter assay 19956200
MIRT024925 hsa-miR-215-5p Microarray 19074876
MIRT026616 hsa-miR-192-5p Microarray 19074876
MIRT785505 hsa-miR-1264 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis IBA
GO:0000281 Process Mitotic cytokinesis IDA 10931866
GO:0000915 Process Actomyosin contractile ring assembly IBA
GO:0000921 Process Septin ring assembly TAS 10931866
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616027 14082 ENSG00000011426
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQW6
Protein name Anillin
Protein function Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis (PubMed:23870127).
PDB 2Y7B , 4XH3 , 4XOI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16018 Anillin_N 142 229 Anillin N-terminus Family
PF16018 Anillin_N 428 506 Anillin N-terminus Family
PF08174 Anillin 800 953 Cell division protein anillin Domain
PF00169 PH 984 1107 PH domain Domain
Tissue specificity 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, pa
Sequence
MDPFTEKLLERTRARRENLQRKMAERPTAAPRSMTHAKRARQPLSEASNQQPLSGGEEKS
CTKPSPSKKRCSDNTEVEVSNLENKQPVESTSAKSCSPSPVSPQVQPQAADTISDSVAVP
ASLLGMRRGLNSRLEATAASSVKTRMQKLAEQRRRWDNDDMTDDIPESSLFSPMPSEEKA
ASPPRPLLSNASATPVGRRGRLANLAATICSWEDDVNHSFAKQNSVQEQ
PGTACLSKFSS
ASGASARINSSSVKQEATFCSQRDGDASLNKALSSSADDASLVNASISSSVKATSPVKST
TSITDAKSCEGQNPELLPKTPISPLKTGVSKPIVKSTLSQTVPSKGELSREICLQSQSKD
KSTTPGGTGIKPFLERFGERCQEHSKESPARSTPHRTPIITPNTKAIQERLFKQDTSSST
THLAQQLKQERQKELACLRGRFDKGNIWSAEKGGNSKSKQLETKQETHCQSTPLKKHQGV
SKTQSLPVTEKVTENQIPAKNSSTEP
KGFTECEMTKSSPLKITLFLEEDKSLKVTSDPKV
EQKIEVIREIEMSVDDDDINSSKVINDLFSDVLEEGELDMEKSQEEMDQALAESSEEQED
ALNISSMSLLAPLAQTVGVVSPESLVSTPRLELKDTSRSDESPKPGKFQRTRVPRAESGD
SLGSEDRDLLYSIDAYRSQRFKETERPSIKQVIVRKEDVTSKLDEKNNAFPCQVNIKQKM
QELNNEINMQQTVIYQASQALNCCVDEEHGKGSLEEAEAERLLLIATGKRTLLIDELNKL
KNEGPQRKNKASPQSEFMPSKGSVTLSEIRLPLKADFVCSTVQKPDAANYYYLIILKAGA
ENMVATPLASTSNSLNGDALTFTTTFTLQDVSNDFEINIEVYSLVQKKDPSGLDKKKKTS
KSKAITPKRLLTSITTKSNIHSSVMASPGGLSAVRTSNFALVGSYTLSLSSVG
NTKFVLD
KVPFLSSLEGHIYLKIKCQVNSSVEERGFLTIFEDVSGFGAWHRRWCVLSGNCISYWTYP
DDEKRKNPIGRINLANCTSRQIEPANREFCARRNTFELITVRPQREDDRETLVSQCRDTL
CVTKNWLSADTKEERDLWMQKLNQVLV
DIRLWQPDACYKPIGKP
Sequence length 1124
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
149
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Focal segmental glomerulosclerosis 8 Likely pathogenic; Pathogenic rs587777741, rs1184529372 RCV000144242
RCV000576906
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs116131910, rs6954957, rs74625879 RCV005914020
RCV005909417
RCV005916124
ANLN-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance rs141973124, rs146632313, rs144175389, rs150551001, rs141247770, rs34285732, rs760156753, rs35765596, rs776330843, rs543976710, rs200824984, rs142859579, rs140160802, rs151288243, rs201617718
View all (12 more)
RCV003399123
RCV003938687
RCV003920943
RCV003416337
RCV003980436
RCV003940896
RCV003911101
RCV003923377
RCV004753473
RCV003903347
RCV003911344
RCV003958658
RCV004753493
RCV003953894
RCV003900932
RCV003906417
RCV004753648
RCV003412448
RCV003893912
RCV003894252
RCV003901358
RCV003969406
RCV003975654
RCV003922979
RCV003960386
RCV003933114
RCV003953603
Cervical cancer Benign; Likely benign rs6954957, rs74625879 RCV005909419
RCV005916125
Chronic kidney disease Conflicting classifications of pathogenicity rs139482132 RCV001171345
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31268619, 32149105, 32533823, 34777569, 35810236, 40486872
Adenocarcinoma of Lung Stimulate 37539739
Atrial Fibrillation Associate 35003319
Branchio Oto Renal Syndrome Associate 30548429
Breast Neoplasms Associate 21679412, 23547718, 27863473, 31578580, 34743685
Carcinogenesis Associate 34082790, 34344861
Carcinoma Adenoid Cystic Associate 31914060
Carcinoma Hepatocellular Associate 23717429, 31822116, 32275843, 33157984, 34130591, 36923927
Carcinoma Pancreatic Ductal Associate 40362181
Carcinoma Renal Cell Associate 35373928