ANLN - anillin, actin binding protein Gene

Also Known as scra; FSGS8; Scraps

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54443

About ANLN

Cytogenetic location: 7p14.2 Genomic coordinates (GRCh38): 7:36,389,862-36,453,791 (from NCBI)

This gene has 13 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 30.2), bone marrow (RPKM 11.3) and 11 other tissues.

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 associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

ANLN Products (3)

mRNA Protein Name
NM_001284301.3 NP_001271230.1 anillin isoform 2
NM_001284302.3 NP_001271231.1 anillin isoform 3
NM_018685.5 NP_061155.2 anillin isoform 1
Molecular Function GO Annotation Evidence References Source
enables actin binding IDA
IDA: Inferred from direct assay
10931866 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within mitotic cytokinesis IDA
IDA: Inferred from direct assay
10931866 GOA
involved in podocyte cell migration IMP
IMP: Inferred from mutant phenotype
24676636 GOA
involved in positive regulation of bleb assembly IMP
IMP: Inferred from mutant phenotype
23870127 GOA
Cellular Component GO Annotation Evidence References Source
located in actin cytoskeleton IDA
IDA: Inferred from direct assay
10931866 GOA
located in actomyosin contractile ring IDA
IDA: Inferred from direct assay
10931866 GOA
located in bleb IDA
IDA: Inferred from direct assay
23870127 GOA
located in cell cortex IDA
IDA: Inferred from direct assay
23870127 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANLN Protein Structure

Anillin

Anillin: Cell division protein anillin (799 - 953)

PH

PH: PH domain (987 - 1105)

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  • 1124 a.a.
Protein Preferred Names Protein Names

anillin

Related Diseases

Diseases Alias
Focal Segmental Glomerulosclerosis 8
  • FSGS8

  • Glomerulosclerosis, Focal Segmental, 8

  • Glomerulosclerosis, Focal Segmental, Type 8

Genetic Steroid-Resistant Nephrotic Syndrome
  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Genetic Srns

  • Hereditary Steroid-Resistant Nephrotic Syndrome

  • Familial Idiopathic Nephrotic Syndrome

  • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

  • Srn1

Focal Segmental Glomerulosclerosis
  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Focal Glomerulosclerosis

  • Fsgs

  • Segmental Glomerulosclerosis

  • Glomerulosclerosis, Focal Segmental

  • Fgs

  • Focal Glomerular Sclerosis

  • Familial Idiopathic Nephrotic Syndrome

  • Focal Sclerosis With Hyalinosis

  • Glomerulosclerosis, Focal

  • Glomerulosclerosis Focal

  • Glomerulosclerosis, Segmental, Focal

  • Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Spinocerebellar Ataxia 44
  • SCA44

End Stage Renal Disease
  • End Stage Renal Failure

  • End-Stage Kidney Disease

  • Kidney Failure, Chronic

  • Chronic Kidney Disease Stage 5

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ANLN VGNC VGNC:37922
Felis catus ANLN VGNC VGNC:59826
Bos taurus ANLN VGNC VGNC:25950
Rattus norvegicus ANLN RGD RGD:1561367
Mus musculus ANLN MGD MGI:1920174
Macaca mulatta ANLN VGNC VGNC:69610
Others ANLN NCBI