Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54443
Gene name Gene Name - the full gene name approved by the HGNC.	Anillin, actin binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ANLN
Synonyms (NCBI Gene) Gene synonyms aliases	FSGS8, Scraps, scra
Disease Acronyms (UniProt) Disease acronyms from UniProt database	FSGS8
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p14.2
Summary Summary 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

Show/Hide all(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

Show/Hide all(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
MIRT785506	hsa-miR-1271	CLIP-seq
MIRT785507	hsa-miR-1277	CLIP-seq
MIRT785508	hsa-miR-132	CLIP-seq
MIRT785509	hsa-miR-15a	CLIP-seq
MIRT785510	hsa-miR-15b	CLIP-seq
MIRT785511	hsa-miR-16	CLIP-seq
MIRT785512	hsa-miR-182	CLIP-seq
MIRT785513	hsa-miR-186	CLIP-seq
MIRT785514	hsa-miR-195	CLIP-seq
MIRT785515	hsa-miR-200b	CLIP-seq
MIRT785516	hsa-miR-200c	CLIP-seq
MIRT785517	hsa-miR-212	CLIP-seq
MIRT785518	hsa-miR-217	CLIP-seq
MIRT785519	hsa-miR-218	CLIP-seq
MIRT785520	hsa-miR-2467-5p	CLIP-seq
MIRT785521	hsa-miR-3065-5p	CLIP-seq
MIRT785522	hsa-miR-30a	CLIP-seq
MIRT785523	hsa-miR-30b	CLIP-seq
MIRT785524	hsa-miR-30c	CLIP-seq
MIRT785525	hsa-miR-30d	CLIP-seq
MIRT785526	hsa-miR-30e	CLIP-seq
MIRT785527	hsa-miR-31	CLIP-seq
MIRT785528	hsa-miR-3119	CLIP-seq
MIRT785529	hsa-miR-3129-3p	CLIP-seq
MIRT785530	hsa-miR-3133	CLIP-seq
MIRT785531	hsa-miR-3146	CLIP-seq
MIRT785532	hsa-miR-3152-5p	CLIP-seq
MIRT785533	hsa-miR-3163	CLIP-seq
MIRT785534	hsa-miR-3164	CLIP-seq
MIRT785535	hsa-miR-3188	CLIP-seq
MIRT785536	hsa-miR-338-5p	CLIP-seq
MIRT785537	hsa-miR-340	CLIP-seq
MIRT785538	hsa-miR-342-3p	CLIP-seq
MIRT785539	hsa-miR-3591-5p	CLIP-seq
MIRT785540	hsa-miR-3606	CLIP-seq
MIRT785541	hsa-miR-3607-3p	CLIP-seq
MIRT785542	hsa-miR-3646	CLIP-seq
MIRT785543	hsa-miR-3647-3p	CLIP-seq
MIRT785544	hsa-miR-3662	CLIP-seq
MIRT785545	hsa-miR-3670	CLIP-seq
MIRT785546	hsa-miR-3672	CLIP-seq
MIRT785547	hsa-miR-3686	CLIP-seq
MIRT785548	hsa-miR-3689d	CLIP-seq
MIRT785549	hsa-miR-3691-3p	CLIP-seq
MIRT785550	hsa-miR-369-3p	CLIP-seq
MIRT785551	hsa-miR-374a	CLIP-seq
MIRT785552	hsa-miR-374b	CLIP-seq
MIRT785553	hsa-miR-376c	CLIP-seq
MIRT785554	hsa-miR-377	CLIP-seq
MIRT785555	hsa-miR-3973	CLIP-seq
MIRT785556	hsa-miR-3975	CLIP-seq
MIRT785557	hsa-miR-424	CLIP-seq
MIRT785558	hsa-miR-4255	CLIP-seq
MIRT785559	hsa-miR-429	CLIP-seq
MIRT785560	hsa-miR-4317	CLIP-seq
MIRT785561	hsa-miR-4418	CLIP-seq
MIRT785562	hsa-miR-4427	CLIP-seq
MIRT785563	hsa-miR-4459	CLIP-seq
MIRT785564	hsa-miR-4477a	CLIP-seq
MIRT785565	hsa-miR-448	CLIP-seq
MIRT785566	hsa-miR-4484	CLIP-seq
MIRT785567	hsa-miR-4495	CLIP-seq
MIRT785568	hsa-miR-4496	CLIP-seq
MIRT785569	hsa-miR-4511	CLIP-seq
MIRT785570	hsa-miR-4517	CLIP-seq
MIRT785571	hsa-miR-4524	CLIP-seq
MIRT785572	hsa-miR-4639-5p	CLIP-seq
MIRT785573	hsa-miR-4677-3p	CLIP-seq
MIRT785574	hsa-miR-4678	CLIP-seq
MIRT785575	hsa-miR-4679	CLIP-seq
MIRT785576	hsa-miR-4725-5p	CLIP-seq
MIRT785577	hsa-miR-4760-5p	CLIP-seq
MIRT785578	hsa-miR-4762-3p	CLIP-seq
MIRT785579	hsa-miR-4764-3p	CLIP-seq
MIRT785580	hsa-miR-4766-3p	CLIP-seq
MIRT785581	hsa-miR-4775	CLIP-seq
MIRT785582	hsa-miR-4778-5p	CLIP-seq
MIRT785583	hsa-miR-4786-3p	CLIP-seq
MIRT785584	hsa-miR-4786-5p	CLIP-seq
MIRT785585	hsa-miR-4795-3p	CLIP-seq
MIRT785586	hsa-miR-485-5p	CLIP-seq
MIRT785587	hsa-miR-497	CLIP-seq
MIRT785588	hsa-miR-499-3p	CLIP-seq
MIRT785589	hsa-miR-499a-3p	CLIP-seq
MIRT785590	hsa-miR-503	CLIP-seq
MIRT785591	hsa-miR-504	CLIP-seq
MIRT785592	hsa-miR-509-3-5p	CLIP-seq
MIRT785593	hsa-miR-5095	CLIP-seq
MIRT785594	hsa-miR-509-5p	CLIP-seq
MIRT785595	hsa-miR-542-3p	CLIP-seq
MIRT785596	hsa-miR-545	CLIP-seq
MIRT785597	hsa-miR-548ae	CLIP-seq
MIRT785598	hsa-miR-548aj	CLIP-seq
MIRT785599	hsa-miR-548am	CLIP-seq
MIRT785600	hsa-miR-548l	CLIP-seq
MIRT785601	hsa-miR-548m	CLIP-seq
MIRT785602	hsa-miR-548n	CLIP-seq
MIRT785603	hsa-miR-548p	CLIP-seq
MIRT785604	hsa-miR-548t	CLIP-seq
MIRT785605	hsa-miR-548x	CLIP-seq
MIRT785606	hsa-miR-550b	CLIP-seq
MIRT785607	hsa-miR-552	CLIP-seq
MIRT785608	hsa-miR-561	CLIP-seq
MIRT785609	hsa-miR-590-3p	CLIP-seq
MIRT785610	hsa-miR-618	CLIP-seq
MIRT785611	hsa-miR-628-3p	CLIP-seq
MIRT785612	hsa-miR-636	CLIP-seq
MIRT785613	hsa-miR-646	CLIP-seq
MIRT785614	hsa-miR-767-5p	CLIP-seq
MIRT785615	hsa-miR-769-5p	CLIP-seq
MIRT785616	hsa-miR-802	CLIP-seq
MIRT785617	hsa-miR-935	CLIP-seq
MIRT785618	hsa-miR-96	CLIP-seq
MIRT785506	hsa-miR-1271	CLIP-seq
MIRT785512	hsa-miR-182	CLIP-seq
MIRT785521	hsa-miR-3065-5p	CLIP-seq
MIRT785527	hsa-miR-31	CLIP-seq
MIRT785618	hsa-miR-96	CLIP-seq
MIRT785518	hsa-miR-217	CLIP-seq
MIRT785541	hsa-miR-3607-3p	CLIP-seq
MIRT785547	hsa-miR-3686	CLIP-seq
MIRT785565	hsa-miR-448	CLIP-seq
MIRT1931761	hsa-miR-595	CLIP-seq
MIRT785611	hsa-miR-628-3p	CLIP-seq
MIRT785614	hsa-miR-767-5p	CLIP-seq
MIRT785616	hsa-miR-802	CLIP-seq
MIRT785617	hsa-miR-935	CLIP-seq
MIRT2172140	hsa-miR-1253	CLIP-seq
MIRT785505	hsa-miR-1264	CLIP-seq
MIRT785507	hsa-miR-1277	CLIP-seq
MIRT785515	hsa-miR-200b	CLIP-seq
MIRT785516	hsa-miR-200c	CLIP-seq
MIRT785518	hsa-miR-217	CLIP-seq
MIRT785519	hsa-miR-218	CLIP-seq
MIRT785522	hsa-miR-30a	CLIP-seq
MIRT785523	hsa-miR-30b	CLIP-seq
MIRT785524	hsa-miR-30c	CLIP-seq
MIRT785525	hsa-miR-30d	CLIP-seq
MIRT785526	hsa-miR-30e	CLIP-seq
MIRT785531	hsa-miR-3146	CLIP-seq
MIRT785532	hsa-miR-3152-5p	CLIP-seq
MIRT785533	hsa-miR-3163	CLIP-seq
MIRT2172141	hsa-miR-3185	CLIP-seq
MIRT785537	hsa-miR-340	CLIP-seq
MIRT785540	hsa-miR-3606	CLIP-seq
MIRT785541	hsa-miR-3607-3p	CLIP-seq
MIRT785542	hsa-miR-3646	CLIP-seq
MIRT785543	hsa-miR-3647-3p	CLIP-seq
MIRT785547	hsa-miR-3686	CLIP-seq
MIRT785550	hsa-miR-369-3p	CLIP-seq
MIRT2172142	hsa-miR-3919	CLIP-seq
MIRT785555	hsa-miR-3973	CLIP-seq
MIRT785559	hsa-miR-429	CLIP-seq
MIRT2172143	hsa-miR-4305	CLIP-seq
MIRT785560	hsa-miR-4317	CLIP-seq
MIRT785561	hsa-miR-4418	CLIP-seq
MIRT2172144	hsa-miR-4422	CLIP-seq
MIRT2172145	hsa-miR-4436b-5p	CLIP-seq
MIRT785564	hsa-miR-4477a	CLIP-seq
MIRT785565	hsa-miR-448	CLIP-seq
MIRT785567	hsa-miR-4495	CLIP-seq
MIRT2172146	hsa-miR-4503	CLIP-seq
MIRT2172147	hsa-miR-4506	CLIP-seq
MIRT785570	hsa-miR-4517	CLIP-seq
MIRT785572	hsa-miR-4639-5p	CLIP-seq
MIRT785573	hsa-miR-4677-3p	CLIP-seq
MIRT785575	hsa-miR-4679	CLIP-seq
MIRT2172148	hsa-miR-4698	CLIP-seq
MIRT2172149	hsa-miR-4756-3p	CLIP-seq
MIRT2172150	hsa-miR-4760-3p	CLIP-seq
MIRT785578	hsa-miR-4762-3p	CLIP-seq
MIRT785579	hsa-miR-4764-3p	CLIP-seq
MIRT2172151	hsa-miR-4777-5p	CLIP-seq
MIRT785582	hsa-miR-4778-5p	CLIP-seq
MIRT785588	hsa-miR-499-3p	CLIP-seq
MIRT785589	hsa-miR-499a-3p	CLIP-seq
MIRT785592	hsa-miR-509-3-5p	CLIP-seq
MIRT785594	hsa-miR-509-5p	CLIP-seq
MIRT2172152	hsa-miR-518d-5p	CLIP-seq
MIRT2172153	hsa-miR-519b-5p	CLIP-seq
MIRT2172154	hsa-miR-519c-5p	CLIP-seq
MIRT2172155	hsa-miR-520c-5p	CLIP-seq
MIRT2172156	hsa-miR-520g	CLIP-seq
MIRT2172157	hsa-miR-520h	CLIP-seq
MIRT2172158	hsa-miR-526a	CLIP-seq
MIRT785608	hsa-miR-561	CLIP-seq
MIRT2172159	hsa-miR-607	CLIP-seq
MIRT785610	hsa-miR-618	CLIP-seq
MIRT785611	hsa-miR-628-3p	CLIP-seq
MIRT2172160	hsa-miR-629	CLIP-seq
MIRT785612	hsa-miR-636	CLIP-seq
MIRT785614	hsa-miR-767-5p	CLIP-seq
MIRT785616	hsa-miR-802	CLIP-seq
MIRT785617	hsa-miR-935	CLIP-seq
MIRT785505	hsa-miR-1264	CLIP-seq
MIRT785506	hsa-miR-1271	CLIP-seq
MIRT785508	hsa-miR-132	CLIP-seq
MIRT785509	hsa-miR-15a	CLIP-seq
MIRT785510	hsa-miR-15b	CLIP-seq
MIRT785511	hsa-miR-16	CLIP-seq
MIRT785512	hsa-miR-182	CLIP-seq
MIRT785514	hsa-miR-195	CLIP-seq
MIRT785517	hsa-miR-212	CLIP-seq
MIRT785518	hsa-miR-217	CLIP-seq
MIRT785521	hsa-miR-3065-5p	CLIP-seq
MIRT785527	hsa-miR-31	CLIP-seq
MIRT785533	hsa-miR-3163	CLIP-seq
MIRT785534	hsa-miR-3164	CLIP-seq
MIRT785541	hsa-miR-3607-3p	CLIP-seq
MIRT785545	hsa-miR-3670	CLIP-seq
MIRT785547	hsa-miR-3686	CLIP-seq
MIRT785553	hsa-miR-376c	CLIP-seq
MIRT785557	hsa-miR-424	CLIP-seq
MIRT785565	hsa-miR-448	CLIP-seq
MIRT785566	hsa-miR-4484	CLIP-seq
MIRT785571	hsa-miR-4524	CLIP-seq
MIRT785572	hsa-miR-4639-5p	CLIP-seq
MIRT785587	hsa-miR-497	CLIP-seq
MIRT785590	hsa-miR-503	CLIP-seq
MIRT785601	hsa-miR-548m	CLIP-seq
MIRT785613	hsa-miR-646	CLIP-seq
MIRT785614	hsa-miR-767-5p	CLIP-seq
MIRT785618	hsa-miR-96	CLIP-seq
MIRT785580	hsa-miR-4766-3p	CLIP-seq
MIRT785603	hsa-miR-548p	CLIP-seq
MIRT785608	hsa-miR-561	CLIP-seq
MIRT785617	hsa-miR-935	CLIP-seq
MIRT785580	hsa-miR-4766-3p	CLIP-seq
MIRT785603	hsa-miR-548p	CLIP-seq

Show/Hide all(17)

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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005826	Component	Actomyosin contractile ring	IBA	21873635
GO:0005826	Component	Actomyosin contractile ring	IDA	10931866
GO:0007096	Process	Regulation of exit from mitosis	TAS	10931866
GO:0015629	Component	Actin cytoskeleton	IDA	10931866
GO:0030496	Component	Midbody	IDA
GO:0031106	Process	Septin ring organization	IBA	21873635
GO:0032059	Component	Bleb	IDA	23870127
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0090521	Process	Glomerular visceral epithelial cell migration	IMP	24676636
GO:0099738	Component	Cell cortex region	IDA	23870127
GO:1904172	Process	Positive regulation of bleb assembly	IMP	23870127

MIM	HGNC	e!Ensembl
616027	14082	ENSG00000011426

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

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
ASPPRPLLSNASATPVGRRGRLANLAATICSWEDDVNHSFAKQNSVQEQPGTACLSKFSS
ASGASARINSSSVKQEATFCSQRDGDASLNKALSSSADDASLVNASISSSVKATSPVKST
TSITDAKSCEGQNPELLPKTPISPLKTGVSKPIVKSTLSQTVPSKGELSREICLQSQSKD
KSTTPGGTGIKPFLERFGERCQEHSKESPARSTPHRTPIITPNTKAIQERLFKQDTSSST
THLAQQLKQERQKELACLRGRFDKGNIWSAEKGGNSKSKQLETKQETHCQSTPLKKHQGV
SKTQSLPVTEKVTENQIPAKNSSTEPKGFTECEMTKSSPLKITLFLEEDKSLKVTSDPKV
EQKIEVIREIEMSVDDDDINSSKVINDLFSDVLEEGELDMEKSQEEMDQALAESSEEQED
ALNISSMSLLAPLAQTVGVVSPESLVSTPRLELKDTSRSDESPKPGKFQRTRVPRAESGD
SLGSEDRDLLYSIDAYRSQRFKETERPSIKQVIVRKEDVTSKLDEKNNAFPCQVNIKQKM
QELNNEINMQQTVIYQASQALNCCVDEEHGKGSLEEAEAERLLLIATGKRTLLIDELNKL
KNEGPQRKNKASPQSEFMPSKGSVTLSEIRLPLKADFVCSTVQKPDAANYYYLIILKAGA
ENMVATPLASTSNSLNGDALTFTTTFTLQDVSNDFEINIEVYSLVQKKDPSGLDKKKKTS
KSKAITPKRLLTSITTKSNIHSSVMASPGGLSAVRTSNFALVGSYTLSLSSVGNTKFVLD
KVPFLSSLEGHIYLKIKCQVNSSVEERGFLTIFEDVSGFGAWHRRWCVLSGNCISYWTYP
DDEKRKNPIGRINLANCTSRQIEPANREFCARRNTFELITVRPQREDDRETLVSQCRDTL
CVTKNWLSADTKEERDLWMQKLNQVLVDIRLWQPDACYKPIGKP

Sequence length

1124

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Focal segmental glomerulosclerosis	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8	rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394 View all (39 more)	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 View all (152 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Nephrotic Syndrome	familial idiopathic steroid-resistant nephrotic syndrome		GenCC
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Colorectal Neoplasms	Stimulate	27062703
Diabetes Mellitus Type 1	Associate	35650387
Dyskinesias	Associate	34082790
Esophageal Squamous Cell Carcinoma	Associate	36526897
Focal cortical dysplasia of Taylor	Associate	34301297
Hypoxia	Associate	37481543
Mouth Neoplasms	Associate	34082790
Multiple Myeloma	Associate	35689754
Neoplasm Metastasis	Associate	21343675
Neoplasm Metastasis	Stimulate	31268619, 36923927
Neoplasms	Associate	21898641, 27062703, 27863473, 28422979, 31578580, 32035007, 32902196, 34344861, 36030492, 38095640
Neoplasms	Stimulate	34082790, 35340220
Neuroblastoma	Associate	19995712
Pancreatic Neoplasms	Associate	19995712, 26214778, 34394706, 37604837, 37741887
Squamous Cell Carcinoma of Head and Neck	Associate	34344861, 34917682
Status Asthmaticus	Associate	34088958
Stomach Neoplasms	Associate	32902196
Thymoma	Associate	36030492
Thyroid Carcinoma Anaplastic	Associate	27796151
Uterine Cervical Neoplasms	Associate	32258155, 34530829

ANLN (anillin, actin binding protein)