ANKRD2

ankyrin repeat domain 2, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 10:97572499-97583884

Links

ENSG00000165887 ∙ NCBI:26287 ∙ OMIM:610734 ∙ HGNC:495 ∙ Uniprot:Q9GZV1 ∙ 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 ANKRD2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD2 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				1		1
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					1	1
Total	0	0	19	2	1

Variants in ANKRD2

This is a list of pathogenic ClinVar variants found in the ANKRD2 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-97572621-TGGC-T			Benign (Dec 31, 2019)
10-97572741-G-A		not specified	Uncertain significance (Dec 18, 2023)
10-97572774-C-T		not specified	Uncertain significance (Dec 01, 2022)
10-97572813-G-A		not specified	Uncertain significance (May 09, 2022)
10-97572817-C-T		not specified	Uncertain significance (Dec 15, 2023)
10-97572822-C-A		not specified	Uncertain significance (Dec 27, 2023)
10-97572842-C-G		not specified	Uncertain significance (Mar 25, 2024)
10-97577812-G-A		not specified	Uncertain significance (Jul 13, 2022)
10-97577837-A-T		not specified	Uncertain significance (Jan 24, 2024)
10-97578273-C-G		not specified	Uncertain significance (Mar 11, 2024)
10-97578365-C-G			Likely benign (Aug 01, 2022)
10-97578505-C-T			Benign/Likely benign (Aug 01, 2022)
10-97578541-A-T		not specified	Uncertain significance (Jan 24, 2023)
10-97578544-G-A		not specified	Uncertain significance (Nov 09, 2023)
10-97578579-G-T		not specified	Uncertain significance (Dec 11, 2023)
10-97580862-G-A		not specified	Uncertain significance (Jun 11, 2021)
10-97581364-G-T		not specified	Uncertain significance (Aug 12, 2021)
10-97582357-G-A		not specified	Uncertain significance (Apr 25, 2023)
10-97582401-T-A		not specified	Uncertain significance (May 08, 2024)
10-97583578-A-G			Benign (Aug 20, 2018)
10-97583589-C-T		not specified	Uncertain significance (Mar 08, 2024)
10-97583605-G-C		not specified	Uncertain significance (May 08, 2024)
10-97583611-G-C		not specified	Uncertain significance (Jun 21, 2022)
10-97583613-A-T		not specified	Uncertain significance (May 26, 2023)
10-97583655-C-T		not specified	Uncertain significance (Apr 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD2	protein_coding	protein_coding	ENST00000307518	9	11444

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.47e-8	0.381	125699	0	48	125747	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.15	176	225	0.784	0.0000145	2291
Missense in Polyphen		83	98.482	0.84279		905
Synonymous	1.53	80	99.4	0.805	0.00000693	730
Loss of Function	0.803	14	17.6	0.794	0.00000101	189

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00144	0.00142
Ashkenazi Jewish	0.00	0.00
East Asian	0.000117	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000830	0.0000791
Middle Eastern	0.000117	0.000109
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress. {ECO:0000269|PubMed:21737686, ECO:0000269|PubMed:22016770}.

Recessive Scores

• pRec: 0.131

Intolerance Scores

• loftool: 0.928
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.22

Haploinsufficiency Scores

• pHI: 0.314
• hipred: N
• hipred_score: 0.442
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.765

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ankrd2
• Phenotype: muscle phenotype; immune system phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of cytokine production;regulation of transcription by RNA polymerase II;muscle contraction;muscle organ development;skeletal muscle tissue development;negative regulation of myotube differentiation;regulation of transcription from RNA polymerase II promoter in response to oxidative stress;negative regulation of myoblast differentiation;regulation of intrinsic apoptotic signaling pathway by p53 class mediator;regulation of myoblast proliferation
• Cellular component: euchromatin;nucleus;cytosol;PML body;I band;intracellular membrane-bounded organelle
• Molecular function: chromatin binding;structural constituent of muscle;titin binding;protein kinase B binding;RNA polymerase II-specific DNA-binding transcription factor binding