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ANLN (anillin, actin binding protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54443
Gene nameGene Name - the full gene name approved by the HGNC.
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.
ANLN
SynonymsGene synonyms aliases
FSGS8, Scraps, scra
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.2
SummarySummary of gene provided in NCBI Entrez 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 as
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis IBA 21873635
GO:0000281 Process Mitotic cytokinesis IDA 10931866
GO:0000915 Process Actomyosin contractile ring assembly IBA 21873635
GO:0000921 Process Septin ring assembly TAS 10931866
GO:0003779 Function Actin binding IDA 10931866
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
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
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
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
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
Unknown
Disease name Disease term dbSNP ID References
Genetic steroid-resistant nephrotic syndrome Genetic steroid-resistant nephrotic syndrome
Glomerular hyalinosis Hyalinosis, Segmental Glomerular
Glomerulosclerosis Focal glomerulosclerosis
Liver carcinoma Liver carcinoma 28284560

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