ANLN

anillin, actin binding protein, the group of Pleckstrin homology domain containing

Basic information

Region (hg38): 7:36389821-36453791

Links

ENSG00000011426 ∙ NCBI:54443 ∙ OMIM:616027 ∙ HGNC:14082 ∙ Uniprot:Q9NQW6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• familial idiopathic steroid-resistant nephrotic syndrome (Supportive), mode of inheritance: AD
• focal segmental glomerulosclerosis 8 (Limited), mode of inheritance: AD
• focal segmental glomerulosclerosis 8 (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Focal segmental glomerulosclerosis 8	AD	Renal	The condition can involve renal failure, and early diagnosis may enable management considerations; Renal transplant has been described	Renal	24676636
Renal transplant has been described

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANLN gene.

• Focal segmental glomerulosclerosis 8 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANLN gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				47	17	64
missense	2		183	14	10	209
nonsense			2			2
start loss						0
frameshift			1			1
inframe indel			1		1	2
splice donor/acceptor (+/-2bp)				1	1	2
splice region			6	3	5	14
non coding			4	49	50	103
Total	2	0	191	111	79

Highest pathogenic variant AF is 0.0000329

Variants in ANLN

This is a list of pathogenic ClinVar variants found in the ANLN region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-36389826-G-T			Likely benign (Jan 01, 2022)
7-36390026-G-T		not specified	Uncertain significance (Jul 06, 2021)
7-36390034-C-T			Likely benign (Nov 17, 2023)
7-36390035-G-C		ANLN-related disorder	Likely benign (Apr 29, 2020)
7-36390047-G-A			Uncertain significance (May 04, 2021)
7-36390059-G-T			Likely benign (Jul 18, 2023)
7-36396136-C-G			Benign (Nov 10, 2018)
7-36396271-G-A			Likely benign (Sep 10, 2023)
7-36396275-G-A		Focal segmental glomerulosclerosis 8 • not specified	Uncertain significance (Dec 12, 2023)
7-36396278-C-T		Focal segmental glomerulosclerosis 8	Uncertain significance (Jul 23, 2022)
7-36396283-C-T			Likely benign (Jun 17, 2023)
7-36396284-C-T			Uncertain significance (Jan 22, 2024)
7-36396285-G-A			Likely benign (Jun 14, 2023)
7-36396291-G-C		not specified	Uncertain significance (Nov 09, 2023)
7-36396312-A-G		Focal segmental glomerulosclerosis 8	Uncertain significance (-)
7-36396327-C-T			Uncertain significance (Oct 24, 2023)
7-36396337-TC-AA			Uncertain significance (Feb 01, 2022)
7-36396342-G-A		ANLN-related disorder	Uncertain significance (Jul 30, 2023)
7-36396347-A-G		Focal segmental glomerulosclerosis 8	Benign/Likely benign (Jan 29, 2024)
7-36396363-G-A		not specified	Uncertain significance (Dec 09, 2023)
7-36396374-C-T			Uncertain significance (Aug 10, 2022)
7-36396375-C-T			Likely benign (Jun 01, 2022)
7-36396387-C-G		ANLN-related disorder • not specified	Uncertain significance (Nov 06, 2023)
7-36396390-G-A			Conflicting classifications of pathogenicity (Dec 20, 2023)
7-36396414-G-A			Uncertain significance (Oct 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANLN	protein_coding	protein_coding	ENST00000265748	24	63986

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.143	0.857	125680	0	68	125748	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.897	531	592	0.896	0.0000317	7329
Missense in Polyphen		229	266.12	0.86052		3205
Synonymous	0.241	200	204	0.979	0.0000104	2171
Loss of Function	5.39	14	58.5	0.239	0.00000320	720

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000151	0.000150
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000112	0.000109
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000285	0.000281
Middle Eastern	0.000112	0.000109
South Asian	0.000803	0.000784
Other	0.000498	0.000489

dbNSFP

Source: dbNSFP

• Function: 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). May play a significant role in podocyte cell migration (PubMed:24676636). {ECO:0000269|PubMed:10931866, ECO:0000269|PubMed:12479805, ECO:0000269|PubMed:15496454, ECO:0000269|PubMed:16040610, ECO:0000269|PubMed:16357138, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:24676636}.
• Disease: DISEASE: 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. {ECO:0000269|PubMed:24676636}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Retinoblastoma (RB) in Cancer (Consensus)

Recessive Scores

• pRec: 0.152

Intolerance Scores

• loftool: 0.758
• rvis_EVS: -1.15
• rvis_percentile_EVS: 6.33

Haploinsufficiency Scores

• pHI: 0.526
• hipred: N
• hipred_score: 0.492
• ghis: 0.549

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.921

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Anln

Zebrafish Information Network

• Gene name: anln
• Affected structure: retinal ganglion cell
• Phenotype tag: abnormal
• Phenotype quality: process quality

Gene ontology

• Biological process: mitotic cytokinesis;actomyosin contractile ring assembly;septin ring assembly;hematopoietic progenitor cell differentiation;regulation of exit from mitosis;cortical cytoskeleton organization;septin ring organization;glomerular visceral epithelial cell migration;positive regulation of bleb assembly;protein localization to mitotic actomyosin contractile ring
• Cellular component: nucleoplasm;actomyosin contractile ring;actin cytoskeleton;midbody;bleb;cell cortex region
• Molecular function: actin binding;GTP-Rho binding;cadherin binding