• Gene id: 54443

Gene Summary

• Gene Symbol: ANLN   Gene   UCSC   Ensembl
• Aliases: FSGS8, Scraps, scra
• Gene name: anillin actin binding protein
• Alternate names: anillin,
• Gene location: 7p14.2 (67056846: 67072016)     Exons: 5     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 616027

Protein Summary

• Protein general information: Q9NQW6  
  • Name: Anillin
  • Length: 1124  
  • Mass: 124199
  • 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:

  MDPFTEKLLERTRARRENLQRKMAERPTAAPRSMTHAKRARQPLSEASNQQPLSGGEEKSCTKPSPSKKRCSDNT
  EVEVSNLENKQPVESTSAKSCSPSPVSPQVQPQAADTISDSVAVPASLLGMRRGLNSRLEATAASSVKTRMQKLA
  EQRRRWDNDDMTDDIPESSLFSPMPSEEKAASPPRPLLSNASATPVGRRGRLANLAATICSWEDDVNHSFAKQNS
  VQEQPGTACLSKFSSASGASARINSSSVKQEATFCSQRDGDASLNKALSSSADDASLVNASISSSVKATSPVKST
  TSITDAKSCEGQNPELLPKTPISPLKTGVSKPIVKSTLSQTVPSKGELSREICLQSQSKDKSTTPGGTGIKPFLE
  RFGERCQEHSKESPARSTPHRTPIITPNTKAIQERLFKQDTSSSTTHLAQQLKQERQKELACLRGRFDKGNIWSA
  EKGGNSKSKQLETKQETHCQSTPLKKHQGVSKTQSLPVTEKVTENQIPAKNSSTEPKGFTECEMTKSSPLKITLF
  LEEDKSLKVTSDPKVEQKIEVIREIEMSVDDDDINSSKVINDLFSDVLEEGELDMEKSQEEMDQALAESSEEQED
  ALNISSMSLLAPLAQTVGVVSPESLVSTPRLELKDTSRSDESPKPGKFQRTRVPRAESGDSLGSEDRDLLYSIDA
  YRSQRFKETERPSIKQVIVRKEDVTSKLDEKNNAFPCQVNIKQKMQELNNEINMQQTVIYQASQALNCCVDEEHG
  KGSLEEAEAERLLLIATGKRTLLIDELNKLKNEGPQRKNKASPQSEFMPSKGSVTLSEIRLPLKADFVCSTVQKP
  DAANYYYLIILKAGAENMVATPLASTSNSLNGDALTFTTTFTLQDVSNDFEINIEVYSLVQKKDPSGLDKKKKTS
  KSKAITPKRLLTSITTKSNIHSSVMASPGGLSAVRTSNFALVGSYTLSLSSVGNTKFVLDKVPFLSSLEGHIYLK
  IKCQVNSSVEERGFLTIFEDVSGFGAWHRRWCVLSGNCISYWTYPDDEKRKNPIGRINLANCTSRQIEPANREFC
  ARRNTFELITVRPQREDDRETLVSQCRDTLCVTKNWLSADTKEERDLWMQKLNQVLVDIRLWQPDACYKPIGKP

• Structural information:
  • Protein Domains: (983..110-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR012966  IPR031970  IPR011993  IPR037840  IPR001849  
  • Prosite: PS50003
  • CDD: cd01263
  • PDB: 2Y7B 4XH3 4XOI
  • PDBsum: 2Y7B 4XH3 4XOI
  • STRING: ENSP00000265748
• Other Databases: GeneCards:  ANLN  Malacards:  ANLN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051301	cell division	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030865	cortical cytoskeleton organization	IBA	biological process
GO:1904498	protein localization to mitotic actomyosin contractile ring	IBA	biological process
GO:0031106	septin ring organization	IBA	biological process
GO:0017049	GTP-Rho binding	IBA	molecular function
GO:0005826	actomyosin contractile ring	IBA	cellular component
GO:0000915	actomyosin contractile ring assembly	IBA	biological process
GO:0000281	mitotic cytokinesis	IBA	biological process
GO:0003779	actin binding	TAS	molecular function
GO:0000921	septin ring assembly	TAS	biological process
GO:0007096	regulation of exit from mitosis	TAS	biological process
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0005826	actomyosin contractile ring	IDA	cellular component
GO:0000281	mitotic cytokinesis	IDA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032059	bleb	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0032059	bleb	IDA	cellular component
GO:0099738	cell cortex region	IDA	cellular component
GO:0090521	glomerular visceral epithelial cell migration	IMP	biological process
GO:1904172	positive regulation of bleb assembly	IMP	biological process

Diseases

Associated diseases	References
Focal segmental glomerulosclerosis	KEGG:H00626
Focal segmental glomerulosclerosis	KEGG:H00626
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R