ANLN (anillin, actin binding protein)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54443 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Anillin, actin binding protein |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ANLN |
SynonymsGene synonyms aliases
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FSGS8, Scraps, scra |
ChromosomeChromosome number
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7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p14.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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
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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 |
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Sequence |
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Sequence length |
1124 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Focal segmental glomerulosclerosis |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 |
rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394, rs121434395, rs387906807, rs778868018, rs397517920, rs386833865, rs1131692055, rs587777741, rs1184529372, rs76492282, rs75462234, rs202128397, rs879255251, rs879255252, rs749740335, rs138656762, rs869025541, rs878853159, rs1393955970, rs748812981, rs1566778651, rs866294686, rs1566777560, rs1566778676, rs1568723797, rs1568725026, rs1569534160, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818 |
24676636, 30002222 |
Kidney disease |
Chronic kidney disease stage 5 |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
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Nephrotic syndrome |
Nephrotic Syndrome |
rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Genetic steroid-resistant nephrotic syndrome |
Genetic steroid-resistant nephrotic syndrome |
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Glomerular hyalinosis |
Hyalinosis, Segmental Glomerular |
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Glomerulosclerosis |
Focal glomerulosclerosis |
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Liver carcinoma |
Liver carcinoma |
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28284560 |
Nephritis |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE |
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24676636 |
Sclerocystic ovaries |
Sclerocystic Ovaries |
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21411543 |
Polycystic ovary syndrome |
Polycystic Ovary Syndrome |
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21411543 |
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