ANLN

Summary

ANLN (anillin, actin binding protein, HGNC:14082) is a protein-coding gene on chromosome 7p14.2, encoding Anillin (Q9NQW6). Required for cytokinesis. It is a selective cancer dependency (DepMap: 52.3% of cell lines).

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.

Source: NCBI Gene 54443 — RefSeq curated summary.

At a glance

• Gene–disease (curated): focal segmental glomerulosclerosis 8 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 608 total — 1 pathogenic
• Phenotypes (HPO): 22
• Cancer dependency (DepMap): dependent in 52.3% of screened cell lines
• MANE Select transcript: NM_018685

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14082
Approved symbol	ANLN
Name	anillin, actin binding protein
Location	7p14.2
Locus type	gene with protein product
Status	Approved
Aliases	ANILLIN, Scraps, scra
Ensembl gene	ENSG00000011426
Ensembl biotype	protein_coding
OMIM	616027
Entrez	54443

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 13 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000265748, ENST00000396068, ENST00000418118, ENST00000424865, ENST00000428612, ENST00000429082, ENST00000441696, ENST00000446635, ENST00000452877, ENST00000457743, ENST00000460598, ENST00000491782, ENST00000495714, ENST00000853901, ENST00000853902, ENST00000918503, ENST00000918504, ENST00000918505, ENST00000918506

RefSeq mRNA: 3 — MANE Select: NM_018685 NM_001284301, NM_001284302, NM_018685

CCDS: CCDS5447, CCDS64628

Canonical transcript exons

ENST00000265748 — 24 exons

Exon	Start	End
ENSE00000460813	36421857	36421992
ENSE00000460818	36426015	36426036
ENSE00000677162	36420169	36420314
ENSE00000677200	36420597	36420744
ENSE00000677201	36422633	36422809
ENSE00000677202	36423817	36423943
ENSE00000677204	36424545	36424593
ENSE00000677206	36424686	36424742
ENSE00000677209	36425702	36425740
ENSE00000677212	36426916	36427028
ENSE00000677214	36439204	36439290
ENSE00000677216	36443755	36443862
ENSE00000677218	36449665	36449837
ENSE00001085355	36399079	36399393
ENSE00001085359	36415758	36415884
ENSE00001085368	36417080	36417190
ENSE00001188923	36419244	36419479
ENSE00001255392	36452477	36453791
ENSE00001862285	36389862	36390044
ENSE00003473539	36410514	36410704
ENSE00003532315	36396266	36396419
ENSE00003533732	36406181	36406566
ENSE00003665471	36411059	36411166
ENSE00003679355	36407734	36407956

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 99.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.9018 / max 13297.1675, expressed in 1586 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78138	27.9667	1476
78137	7.1685	1249
78146	5.9863	140
78140	3.3536	117
78149	1.7687	367
78147	1.6230	374
78150	1.5868	387
78142	1.5272	99
78145	1.3962	110
78148	1.3694	251

Top tissues by expression

255 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	99.57	gold quality
inferior vagus X ganglion	UBERON:0005363	99.20	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.80	gold quality
spinal cord	UBERON:0002240	98.77	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.58	gold quality
subthalamic nucleus	UBERON:0001906	98.55	gold quality
medulla oblongata	UBERON:0001896	98.49	gold quality
medial globus pallidus	UBERON:0002477	98.16	gold quality
globus pallidus	UBERON:0001875	98.12	gold quality
superior vestibular nucleus	UBERON:0007227	98.03	gold quality
substantia nigra pars compacta	UBERON:0001965	97.75	gold quality
pons	UBERON:0000988	97.60	gold quality
secondary oocyte	CL:0000655	97.54	gold quality
lateral globus pallidus	UBERON:0002476	97.33	gold quality
dorsal plus ventral thalamus	UBERON:0001897	97.14	gold quality
midbrain	UBERON:0001891	97.12	gold quality
substantia nigra	UBERON:0002038	97.11	gold quality
ventral tegmental area	UBERON:0002691	96.05	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.94	gold quality
oocyte	CL:0000023	95.68	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.19	gold quality
endothelial cell	CL:0000115	94.75	gold quality
Ammon’s horn	UBERON:0001954	94.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.43	gold quality
ventricular zone	UBERON:0003053	93.96	gold quality
postcentral gyrus	UBERON:0002581	92.90	gold quality
sperm	CL:0000019	92.89	gold quality
parietal lobe	UBERON:0001872	92.49	gold quality
amygdala	UBERON:0001876	92.26	gold quality
putamen	UBERON:0001874	91.73	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-10596	yes	194.26
E-MTAB-8530	yes	179.79
E-MTAB-8495	yes	142.29
E-MTAB-10855	yes	120.34
E-GEOD-84465	yes	11.02
E-MTAB-6678	yes	7.90
E-ANND-3	yes	6.48
E-MTAB-4850	no	140.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4

miRNA regulators (miRDB)

89 targeting ANLN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3119	99.92	71.34	2390

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 52.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• anillin has a role in spatially regulating the contractile activity of myosin II during cytokinesis (PMID:15496454)
• Anillin is a substrate of APC/C that controls spatial contractility of myosin during late cytokinesis. (PMID:16040610)
• anillin is overexpressed in diverse common human tumors, but not simply because of its role in cell proliferation (PMID:16203764)
• Over-expression of ANLN is associated with pulmonary carcinogenesis (PMID:16357138)
• Human anillin contains a conserved C-terminal domain that is essential for its function and localization. (PMID:18158243)
• This study was to establish if ANLN was a molecular marker for pancreatic cancer. (PMID:19995712)
• Cytoplasmic anillin expression is a marker of favourable prognosis in renal cell carcinoma patients. (PMID:21109967)
• CIT-K is capable of physically and functionally interacting with the actin-binding protein anillin. (PMID:21849473)
• Data supports an analogous function for the anillin-Ect2 complex in human cells and one hypothesis is that this complex has functionally replaced the Drosophila anillin-RacGAP50C complex. (PMID:22514687)
• Antibody screening revealed 3 candidate prognostic markers in breast cancer: the Anillin (ANLN); PDZ-Binding Kinase (PBK); and, PDZ-Domain Containing 1 (PDZK1). (PMID:23547718)
• Supervillin concentrates activated and total myosin II at the furrow, and simultaneous knockdown of supervillin and anillin additively increases cell division failure. (PMID:24088567)
• Identified a missense mutation R431C in anillin (ANLN), an F-actin binding cell cycle gene, as a cause of FSGS. We screened 250 additional families with FSGS and found another variant, G618C, that segregates with disease in a second family with FSGS. (PMID:24676636)
• ANLN is positively associated with Wnt/beta-catenin signaling in gastric cancer.Elevated expression of ANLN is a predictor of intestinal type gastric cancer. ER-alpha is negatively associated with the expression of ANLN in gastric cancer. (PMID:24809965)
• The sequestration of anillin by astral microtubules might alter the organization of cortical proteins to polarize cells for cytokinesis (PMID:24994938)
• Data suggest that anillin (ANLN) could be involved in breast cancer progression and a potential target candidate in breast cancer. (PMID:25223638)
• these data demonstrate that a complex of p190RhoGAP-A and anillin modulates RhoA-GTP levels in the cytokinetic furrow to ensure progression of cytokinesis. (PMID:25359885)
• Anillin regulates intercellular adhesion in model human epithelia by mechanisms involving the suppression of JNK activity and controlling the assembly of the perijunctional cytoskeleton. (PMID:25809162)
• High nuclear expression of anillin (ANLN) is an independent predictor of poor disease-specific survival and it is a useful prognostic marker of urothelial carcinoma of the upper urinary tract (UCUT). (PMID:26135313)
• Identification 4 novel and 18 known exonic ANLN variants associated with carotid intima-media thickness at bifurcation. (PMID:26319989)
• Findings indicate that miR-497 is a potent tumor suppressor that inhibits cancer phenotypes by targeting ANLN and HSPA4L in NPC. (PMID:26486082)
• ANLN expression is elevated in colorectal cancer and has a strong potential to act as a biomarker for the prognosis of colorectal cancer. (PMID:27062703)
• Anillin (ANLN) expression in tumor cells is correlated to poor prognosis in breast cancer patients, independent of Ki-67 or tumor size. (PMID:27863473)
• S635 phosphorylation is essential for cytokinesis. (PMID:28081137)
• Bladder urothelial carcinoma patients with elevated ANLN expression had poorer survival prospects. (PMID:28600503)
• Authors found that decreasing Ran-GTP levels or tethering active Ran to the equatorial membrane affects anillin’s localization and causes cytokinesis phenotypes. (PMID:28931593)
• Knockdown of ANLN in liver cells blocks cytokinesis and inhibits development of liver tumors. (PMID:29274368)
• High ANLN expression is associated with glioma. (PMID:30530503)
• Missense mutation in ANLN was identified as a cause of branchio-otic syndrome in a specific Chinese family. (PMID:30548429)
• Study suggests that the expression of ANLN in lung adenocarcinoma is associated with metastasis of cancer cells. ANLN may be involved in the metastasis of lung adenocarcinoma by promoting epithelial mesenchymal transformation of tumor cells. (PMID:31268619)
• concomitantly high expression of ANLN and KDR is associated with breast cancer. (PMID:31578580)
• Visualizing dynamic actin cross-linking processes driven by the actin-binding protein anillin. (PMID:31853940)
• Anillin regulates breast cancer cell migration, growth, and metastasis by non-canonical mechanisms involving control of cell stemness and differentiation. (PMID:31910867)
• LncRNA XIST promotes chemoresistance of breast cancer cells to doxorubicin by sponging miR-200c-3p to upregulate ANLN. (PMID:32198770)
• High mobility group AT-hook 2 promotes tumorigenicity of pancreatic cancer cells via upregulating ANLN. (PMID:32413362)
• Anillin is an emerging regulator of tumorigenesis, acting as a cortical cytoskeletal scaffold and a nuclear modulator of cancer cell differentiation. (PMID:32880660)
• Actin-binding protein Anillin promotes the progression of gastric cancer in vitro and in mice. (PMID:33089886)
• Molecular basis of functional exchangeability between ezrin and other actin-membrane associated proteins during cytokinesis. (PMID:33862101)
• ANLN promotes carcinogenesis in oral cancer by regulating the PI3K/mTOR signaling pathway. (PMID:34082790)
• Anillin propels myosin-independent constriction of actin rings. (PMID:34321459)
• Alternatively spliced ANLN isoforms synergistically contribute to the progression of head and neck squamous cell carcinoma. (PMID:34344861)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	anln	ENSDARG00000060917
mus_musculus	Anln	ENSMUSG00000036777
rattus_norvegicus	Anln	ENSRNOG00000014343
rattus_norvegicus	Anlnl1	ENSRNOG00000018113
drosophila_melanogaster	CG30183	FBGN0050183
drosophila_melanogaster	scra	FBGN0261385
caenorhabditis_elegans		WBGENE00012835
caenorhabditis_elegans		WBGENE00019608

Paralogs (2): RTKN (ENSG00000114993), RTKN2 (ENSG00000182010)

Protein

Protein identifiers

Anillin — Q9NQW6 (reviewed: Q9NQW6)

All UniProt accessions (9): Q9NQW6, C9J0G4, C9JJT6, H7C0Y6, H7C167, H7C1C2, H7C1K5, H7C3R2, H7C3S1

UniProt curated annotations — full annotation on UniProt →

Function. Required for cytokinesis. 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. May play a significant role in podocyte cell migration.

Subunit / interactions. Interacts with F-actin. Interacts with CD2AP. May interact with RHOA. Interacts with FZR1/CDH1 during mitotic exit.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Cell cortex. Cell projection. Bleb.

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, pancreas, prostate and spleen. In the kidney, it is widely expressed in tubules, but sparsely expressed in the glomerulus. Expression is significantly increased in renal biopsy specimens from idiopathic FSGS. Overexpressed in many tumor types including breast, colorectal, endometrial, hepatic, kidney, lung, ovarian and pancreatic tumors.

Post-translational modifications. Phosphorylated during mitosis. Ubiquitinated, and this requires FZR1/CDH1.

Disease relevance. Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032] A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NQW6-1	1	yes
Q9NQW6-2	2

RefSeq proteins (3): NP_001271230, NP_001271231, NP_061155* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR012966	AHD	Domain
IPR031970	Anillin_N	Domain
IPR037840	PH_Anillin	Domain
IPR051364	Cytokinesis/Rho-signaling	Family

Pfam: PF00169, PF08174, PF16018

UniProt features (100 total): modified residue 35, strand 17, region of interest 11, compositionally biased region 8, helix 8, sequence conflict 6, sequence variant 4, mutagenesis site 3, turn 3, chain 1, domain 1, coiled-coil region 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2Y7B	X-RAY DIFFRACTION	1.9
4XOI	X-RAY DIFFRACTION	2.09
4XH3	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQW6-F1	60.09	0.25

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (36): 1, 54, 72, 97, 102, 172, 182, 194, 225, 252, 261, 320, 323, 339, 364, 371, 397, 401, 417, 419 …

Mutagenesis-validated functional residues (3):

Position	Phenotype
32	abrogates interaction with cd2ap.
41	abrogates ubiquitin-mediated proteolysis; when associated with a-44.
44	abrogates ubiquitin-mediated proteolysis; when associated with a-41.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 416 (showing top): GOBP_MITOTIC_CYTOKINESIS, WU_APOPTOSIS_BY_CDKN1A_VIA_TP53, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HORIUCHI_WTAP_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, NKX25_02, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, TATTATA_MIR374, GOBP_REGULATION_OF_EXIT_FROM_MITOSIS, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, MONTERO_THYROID_CANCER_POOR_SURVIVAL_UP, GOBP_CYTOKINETIC_PROCESS, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION

GO Biological Process (9): mitotic cytokinesis (GO:0000281), actomyosin contractile ring assembly (GO:0000915), septin ring assembly (GO:0000921), hematopoietic progenitor cell differentiation (GO:0002244), regulation of exit from mitosis (GO:0007096), septin ring organization (GO:0031106), podocyte cell migration (GO:0090521), positive regulation of bleb assembly (GO:1904172), cell division (GO:0051301)

GO Molecular Function (3): actin binding (GO:0003779), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (11): nucleoplasm (GO:0005654), actomyosin contractile ring (GO:0005826), cytosol (GO:0005829), cell cortex (GO:0005938), actin cytoskeleton (GO:0015629), midbody (GO:0030496), bleb (GO:0032059), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	3
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	2
mitotic cell cycle	1
cytoskeleton-dependent cytokinesis	1
mitotic cell cycle process	1
assembly of actomyosin apparatus involved in cytokinesis	1
actomyosin contractile ring organization	1
septin ring organization	1
protein-containing complex assembly	1
membraneless organelle assembly	1
hemopoiesis	1
cell differentiation	1
exit from mitosis	1
regulation of mitotic cell cycle phase transition	1
septin cytoskeleton organization	1
epithelial cell migration	1
bleb assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
regulation of bleb assembly	1
cellular process	1
cytoskeletal protein binding	1
cell adhesion molecule binding	1
binding	1
nuclear lumen	1
cortical actin cytoskeleton	1
cell division site	1
contractile ring	1
cell periphery	1
cytoskeleton	1
plasma membrane bounded cell projection	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

3904 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANLN	RACGAP1	Q9H0H5	990
ANLN	ECT2	Q9H8V3	987
ANLN	RHOA	P06749	986
ANLN	DIAPH3	Q9NSV4	967
ANLN	KIF23	Q02241	946
ANLN	CD2AP	Q9Y5K6	790
ANLN	SLC26A8	Q96RN1	767
ANLN	TPX2	Q9ULW0	673
ANLN	SEPTIN6	Q14141	661
ANLN	SEPTIN2	Q15019	659
ANLN	CCNB1	P14635	658
ANLN	INF2	Q27J81	651
ANLN	RRM2	P31350	646
ANLN	ACTN4	O43707	641
ANLN	AURKB	Q96GD4	636

IntAct

39 interactions, top by confidence:

A	B	Type	Score
CIT	TAX1BP3	psi-mi:“MI:0914”(association)	0.690
POLR1E	POLR1C	psi-mi:“MI:0914”(association)	0.670
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
IQGAP3	PEX19	psi-mi:“MI:0914”(association)	0.530
ANLN	Anln	psi-mi:“MI:0915”(physical association)	0.400
ANLN	CRK	psi-mi:“MI:0915”(physical association)	0.370
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MMGT1	DERL1	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
HRAS	MET	psi-mi:“MI:0914”(association)	0.350
MYC		psi-mi:“MI:0914”(association)	0.350
ANLN	PPIF	psi-mi:“MI:0914”(association)	0.350
MIF	BLTP3B	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CALML3	MYO1C	psi-mi:“MI:0914”(association)	0.350
ISCA1	BACH1	psi-mi:“MI:0914”(association)	0.350
ANLN	UBA6	psi-mi:“MI:0914”(association)	0.350
RANBP6	IPO5	psi-mi:“MI:0914”(association)	0.350
CALM1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
IQGAP3	CCDC85C	psi-mi:“MI:0914”(association)	0.350
SNW1		psi-mi:“MI:0914”(association)	0.350
CDC5L		psi-mi:“MI:0914”(association)	0.350
NIN	AP3D1	psi-mi:“MI:2364”(proximity)	0.270
BRCA1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
MDC1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
H2BC10	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
AR	MED6	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (2470): MARCH10 (Two-hybrid), UBAP2L (Co-fractionation), ZWILCH (Co-fractionation), ANLN (Two-hybrid), ANLN (Proximity Label-MS), ANLN (Proximity Label-MS), ACTG1 (Affinity Capture-MS), ACTN4 (Affinity Capture-MS), ACTN1 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP2B1 (Affinity Capture-MS), APOB (Affinity Capture-MS), BLMH (Affinity Capture-MS), DST (Affinity Capture-MS), CALM1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2L7I0, A0A0R4IWG9, A0JMK9, A5D979, B0BLU1, D3ZVU1, F6UH96, G3X912, O70445, O88700, P54132, P59110, Q03111, Q0VBD2, Q1LVK9, Q22557, Q24558, Q24595, Q28E45, Q5EAW4, Q5I2W8, Q5R1T0, Q5SPR8, Q5XI59, Q6A037, Q6DJS0, Q6INS5, Q6P2L6, Q6XV80, Q6ZPI0, Q71M44, Q7KW09, Q7L590, Q7T308, Q7ZVP1, Q7ZXG4, Q801E2, Q803U7, Q80Z32, Q8AXF4

Diamond homologs: A0A0G2JUG7, A2A5R2, A5PKW4, D4A631, F1MUS9, F4IXW2, F4JN05, F4JSZ5, F4K2K3, G3X9K3, G5EGS5, O08967, O13817, O43739, O46382, P11075, P34512, P39993, P47102, P54644, P60669, P63034, P63035, P97694, P97696, Q10491, Q15438, Q1ZXL0, Q2KI41, Q3TES0, Q42510, Q54KA7, Q552C1, Q55GV3, Q5DTT2, Q5DU25, Q5E9G6, Q5JU85, Q5U2Z7, Q6DFZ1

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
FZR1	“down-regulates quantity by destabilization”	ANLN	binding
APC-c	“down-regulates quantity by destabilization”	ANLN	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 54 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
G2/M DNA damage checkpoint	5	14.7×	3e-03
RHO GTPase Effectors	6	9.9×	3e-03
Infectious disease	10	6.1×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

608 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	323
Likely benign	151
Benign	83

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
156222	NM_018685.5(ANLN):c.1852G>T (p.Gly618Cys)	Pathogenic

SpliceAI

3613 predictions. Top by Δscore:

Variant	Effect	Δscore
7:36390041:GGAG:G	donor_gain	1.0000
7:36390042:GAG:G	donor_gain	1.0000
7:36390042:GAGG:G	donor_gain	1.0000
7:36390045:G:A	donor_loss	1.0000
7:36396261:TGTAG:T	acceptor_loss	1.0000
7:36396262:GTA:G	acceptor_loss	1.0000
7:36396263:TAGA:T	acceptor_loss	1.0000
7:36396264:A:AG	acceptor_gain	1.0000
7:36396264:A:C	acceptor_loss	1.0000
7:36396265:G:GA	acceptor_gain	1.0000
7:36396265:GA:G	acceptor_gain	1.0000
7:36396265:GAA:G	acceptor_gain	1.0000
7:36396415:TGAAG:T	donor_loss	1.0000
7:36396417:AAG:A	donor_gain	1.0000
7:36396418:AG:A	donor_loss	1.0000
7:36396419:GG:G	donor_loss	1.0000
7:36396420:GTAA:G	donor_loss	1.0000
7:36396421:T:G	donor_loss	1.0000
7:36399072:A:AG	acceptor_gain	1.0000
7:36399075:GTAGA:G	acceptor_loss	1.0000
7:36399076:TAGAG:T	acceptor_loss	1.0000
7:36399077:A:AG	acceptor_gain	1.0000
7:36399078:G:GG	acceptor_gain	1.0000
7:36399078:G:GT	acceptor_loss	1.0000
7:36399078:GA:G	acceptor_gain	1.0000
7:36399078:GAGA:G	acceptor_gain	1.0000
7:36399078:GAGAA:G	acceptor_gain	1.0000
7:36399390:ACAG:A	donor_loss	1.0000
7:36399391:CAGGT:C	donor_loss	1.0000
7:36399392:AGG:A	donor_loss	1.0000

AlphaMissense

7367 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:36439285:T:C	F989L	1.000
7:36439287:T:A	F989L	1.000
7:36439287:T:G	F989L	1.000
7:36443788:T:A	W1002R	1.000
7:36443788:T:C	W1002R	1.000
7:36443790:G:C	W1002C	1.000
7:36443790:G:T	W1002C	1.000
7:36421968:G:C	A759P	0.999
7:36439289:T:C	L990P	0.999
7:36443783:G:A	G1000D	0.999
7:36443795:G:C	R1004P	0.999
7:36443800:T:A	W1006R	0.999
7:36443800:T:C	W1006R	0.999
7:36443833:T:A	W1017R	0.999
7:36443833:T:C	W1017R	0.999
7:36449734:T:C	C1050R	0.999
7:36449741:G:C	R1052T	0.999
7:36449742:A:C	R1052S	0.999
7:36449742:A:T	R1052S	0.999
7:36452485:T:C	L1087P	0.999
7:36452509:G:C	R1095P	0.999
7:36452517:T:A	W1098R	0.999
7:36452517:T:C	W1098R	0.999
7:36420612:A:C	R677S	0.998
7:36420612:A:T	R677S	0.998
7:36421902:G:C	A737P	0.998
7:36421915:T:C	L741P	0.998
7:36421978:T:C	L762P	0.998
7:36421981:T:C	L763P	0.998
7:36421984:T:C	L764P	0.998

dbSNP variants (sampled 300 via entrez): RS1000033989 (7:36425168 C>T), RS1000065839 (7:36436782 C>G,T), RS1000075873 (7:36436402 A>G), RS1000100988 (7:36411340 A>G), RS1000182210 (7:36409429 A>G), RS1000205612 (7:36454128 T>C), RS1000221974 (7:36436923 A>G), RS1000263842 (7:36390780 G>T), RS1000317108 (7:36429799 CTT>C), RS1000433912 (7:36422469 A>G), RS1000443227 (7:36398413 G>T), RS1000450640 (7:36430249 T>G), RS1000634941 (7:36423195 A>G), RS1000731990 (7:36416195 A>G), RS1000761783 (7:36416441 G>A)

Disease associations

OMIM: gene MIM:616027 | disease phenotypes: MIM:616032

GenCC curated gene-disease

Disease	Classification	Inheritance
focal segmental glomerulosclerosis 8	Strong	Autosomal dominant
familial idiopathic steroid-resistant nephrotic syndrome	Supportive	Autosomal dominant

Mondo (4): focal segmental glomerulosclerosis 8 (MONDO:0014462), chronic kidney disease (MONDO:0005300), nephrotic syndrome (MONDO:0005377), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)

Orphanet (1): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656)

HPO phenotypes

22 total (22 of 22 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000100	Nephrotic syndrome
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000969	Edema
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis
HP:0002027	Abdominal pain
HP:0002315	Headache
HP:0002586	Peritonitis
HP:0003073	Hypoalbuminemia
HP:0003584	Late onset
HP:0003621	Juvenile onset
HP:0003774	Stage 5 chronic kidney disease
HP:0011462	Young adult onset
HP:0011947	Respiratory tract infection
HP:0012579	Minimal change glomerulonephritis
HP:0012622	Chronic kidney disease
HP:0031504	Foamy urine
HP:0100539	Periorbital edema

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003670_12	Systolic blood pressure	1.000000e-07
GCST003670_2	Systolic blood pressure	1.000000e-07
GCST90002404_286	Red cell distribution width	4.000000e-14

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0009188	Red cell distribution width

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D007676	Kidney Failure, Chronic	C12.050.351.968.419.780.750.500; C12.200.777.419.780.750.500; C12.950.419.780.750.500; C23.550.291.500.906.500
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

107 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	4
bisphenol A	affects expression, decreases expression, decreases methylation	3
Benzo(a)pyrene	decreases expression	3
Estradiol	increases expression, increases phosphorylation	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	3
sodium arsenite	decreases expression, increases expression	2
Resveratrol	decreases expression, affects cotreatment, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Coumestrol	increases expression, affects reaction, affects cotreatment	2
Doxorubicin	decreases expression	2
Fluorouracil	decreases expression, affects reaction, decreases reaction	2
Quercetin	decreases expression, decreases phosphorylation, increases phosphorylation	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression, increases expression	1
afuresertib	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
propionaldehyde	decreases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, decreases expression	1
deoxynivalenol	increases expression	1
3,4-dichloroaniline	decreases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
ochratoxin A	increases expression	1
gossypol acetic acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D7K2	Ubigene A-549 ANLN KO	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00073710	PHASE4	COMPLETED	Study to Evaluate the Effects of Zemplar Injection and Calcijex on Intestinal Absorption of Calcium
NCT00125593	PHASE4	COMPLETED	Study of Heart and Renal Protection
NCT00132431	PHASE4	COMPLETED	START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism
NCT00155246	PHASE4	COMPLETED	Efficacy of Pentoxifylline on Chronic Kidney Disease
NCT00175149	PHASE4	TERMINATED	Active Vitamin D Effect on Left Ventricular Hypertrophy
NCT00184769	PHASE4	COMPLETED	Growth Hormone Treatment in Infants Aged 1 to 2 Years With Chronic Renal Insufficiency (CRI) and Growth Retardation.
NCT00190580	PHASE4	COMPLETED	Kanagawa Valsartan Trial (KVT): Effects of Valsartan on Renal and Cardiovascular Disease
NCT00194961	PHASE4	TERMINATED	Effect of Growth Hormone on Leptin, Cytokines and Body Composition of Children With Growth Failure Due to Chronic Kidney Disease
NCT00239642	PHASE4	COMPLETED	Safety and Efficacy of Iron Sucrose in Children
NCT00324571	PHASE4	COMPLETED	Dialysis Clinical Outcomes Revisited (DCOR) Trial
NCT00364884	PHASE4	UNKNOWN	Keto-/Amino Acid Supplemented Low Protein Diet in Patients With Chronic Kidney Disease
NCT00368901	PHASE4	COMPLETED	STAAR-2 Clinical Study
NCT00369733	PHASE4	COMPLETED	STAAR-3 Clinical Study
NCT00369772	PHASE4	COMPLETED	STAAR-1 Clinical Study
NCT00379899	PHASE4	COMPLETED	ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis
NCT00384618	PHASE4	TERMINATED	Anti-Oxidant Therapy In Chronic Renal Insufficiency (ATIC) Study
NCT00478543	PHASE4	COMPLETED	Loop Diuretics in Chronic Kidney Disease
NCT00632125	PHASE4	COMPLETED	Post-authorization Safety Study in CKD Subjects Receiving HX575 i.v.
NCT00644046	PHASE4	COMPLETED	Chronic Kidney Disease Prevention of An-Lo District, Keelung
NCT00719316	PHASE4	UNKNOWN	Aliskiren and Muscle Sympathetic Nerve Activity
NCT00725517	PHASE4	COMPLETED	Efficacy and Safety of a 7.5% Icodextrin Peritoneal Dialysis Solution in Once-Daily Long Dwell Exchange
NCT00741585	PHASE4	COMPLETED	Prognostic Value of the Circadian Pattern of Ambulatory Blood Pressure for Multiple Risk Assessment
NCT00749736	PHASE4	COMPLETED	The Role of Vitamin D in Immune Function in Patients With Chronic Kidney Disease (CKD) Stages 3 and 4.
NCT00752102	PHASE4	COMPLETED	Vitamin D and Coronary Calcification Study
NCT00756145	PHASE4	COMPLETED	The Use of Low Molecular Weight Heparin in Hemodiafiltration
NCT00768638	PHASE4	COMPLETED	Study of Atorvastatin Dose Dependent Reduction of Proteinuria
NCT00786136	PHASE4	COMPLETED	Rosuvastatin Prevent Contrast Induced Acute Kidney Injury in Patients With Diabetes
NCT00803712	PHASE4	COMPLETED	20070360 Incident Dialysis
NCT00812123	PHASE4	COMPLETED	Calcineurin Free Immunosuppression in Renal Transplant Recipients
NCT00823303	PHASE4	COMPLETED	Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3/4 Chronic Kidney Disease (CKD) With Secondary Hyperparathyroidism (SHPT)
NCT00830037	PHASE4	TERMINATED	A Clinical Trial of Oral Versus IV Iron in Patients With Chronic Kidney Disease
NCT00852969	PHASE4	COMPLETED	Niacin and Endothelial Function in Early CKD
NCT00858299	PHASE4	UNKNOWN	The Change of Urinary Angiotensinogen Excretion After Valsartan Treatment in Patients With Persistent Proteinuria
NCT00860431	PHASE4	COMPLETED	Kremezin Study Against Renal Disease Progression in Korea
NCT00882401	PHASE4	COMPLETED	Vitamin D, Chronic Kidney Disease (CKD) and the Microcirculation
NCT00889629	PHASE4	COMPLETED	Pilot Study Evaluating Doxercalciferol Replacement Therapy in Kidney Transplant Recipients
NCT00892892	PHASE4	WITHDRAWN	Sympathetic Nerve Activity in Renal Failure
NCT00893425	PHASE4	COMPLETED	Effect of Renin Angiotensin System Blockade on the Fas Antigen (CD95) and Asymmetric Dimethylarginine (ADMA) Levels in Type-2 Diabetic Patients With Proteinuria
NCT00908310	PHASE4	COMPLETED	Post-marketing Safety Study in Patients With Moderate Renal Insufficiency Who Receive Omniscan for Contrast-enhanced Magnetic Resonance Imaging (MRI)
NCT00958451	PHASE4	COMPLETED	Vitamin D Deficiency in Chronic Kidney Disease (CKD) Patients