KANK3

KN motif and ankyrin repeat domains 3, the group of KN motif and ankyrin repeat domain containing

Basic information

Region (hg38): 19:8322584-8343262

Previous symbols: [ "ANKRD47" ]

Links

ENSG00000186994 ∙ NCBI:256949 ∙ OMIM:614611 ∙ HGNC:24796 ∙ Uniprot:Q6NY19 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KANK3 gene.

• not_specified (133 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KANK3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198471.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			126	7		133
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	126	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KANK3	protein_coding	protein_coding	ENST00000330915	10	20679

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.73e-8	0.741	125706	0	42	125748	0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.953	276	324	0.851	0.0000174	5055
Missense in Polyphen		57	73.533	0.77517		1680
Synonymous	-0.380	151	145	1.04	0.00000823	1820
Loss of Function	1.37	15	21.9	0.684	0.00000113	281

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000359	0.000358
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.000242	0.000237
Middle Eastern	0.00	0.00
South Asian	0.0000984	0.0000980
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the control of cytoskeleton formation by regulating actin polymerization.

Recessive Scores

• pRec: 0.0957

Haploinsufficiency Scores

• pHI: 0.245
• hipred: N
• hipred_score: 0.285
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.299

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kank3

Zebrafish Information Network

• Gene name: kank3
• Affected structure: epidermal cell
• Phenotype tag: abnormal
• Phenotype quality: increased variability of size

Gene ontology

• Biological process: negative regulation of actin filament polymerization
• Cellular component: cytoplasm