ADD2

adducin 2, the group of Adducin family

Basic information

Region (hg38): 2:70607617-70768225

Links

ENSG00000075340 ∙ NCBI:119 ∙ OMIM:102681 ∙ HGNC:244 ∙ Uniprot:P35612 ∙ 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 ADD2 gene.

• Inborn genetic diseases (19 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADD2 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			18	2	3	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	3	3

Variants in ADD2

This is a list of pathogenic ClinVar variants found in the ADD2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-70663526-G-C		not specified	Uncertain significance (Dec 06, 2021)
2-70663675-G-A		not specified	Uncertain significance (Aug 08, 2022)
2-70663703-C-T		not specified	Likely benign (Oct 03, 2022)
2-70663710-G-A			Likely benign (May 01, 2022)
2-70672942-C-T		not specified	Likely benign (Dec 17, 2023)
2-70674698-C-T		not specified	Uncertain significance (Apr 25, 2022)
2-70674733-G-C		not specified	Uncertain significance (Jun 22, 2023)
2-70674792-C-T			Likely benign (May 01, 2022)
2-70676855-A-T		not specified	Uncertain significance (Jan 06, 2023)
2-70677862-C-T		not specified	Uncertain significance (Jan 31, 2022)
2-70678831-A-C		not specified	Uncertain significance (Feb 09, 2022)
2-70678835-C-G		not specified	Uncertain significance (Dec 26, 2023)
2-70678843-G-A		not specified	Uncertain significance (Sep 15, 2021)
2-70678913-T-A		not specified	Uncertain significance (Feb 17, 2024)
2-70678919-C-T		not specified	Uncertain significance (Dec 21, 2023)
2-70678958-A-G		not specified	Uncertain significance (Dec 26, 2023)
2-70683653-T-G		not specified	Uncertain significance (Apr 07, 2023)
2-70683683-C-G		not specified	Uncertain significance (Jun 05, 2023)
2-70683711-C-A			Benign (Mar 02, 2018)
2-70688098-C-A		not specified	Uncertain significance (Nov 08, 2022)
2-70690823-C-T		not specified	Uncertain significance (Jan 23, 2024)
2-70690899-C-T		not specified	Uncertain significance (Nov 08, 2022)
2-70692413-G-C		not specified	Uncertain significance (Jul 19, 2023)
2-70692447-C-T		not specified	Uncertain significance (Apr 11, 2023)
2-70696270-G-A		not specified	Uncertain significance (Sep 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADD2	protein_coding	protein_coding	ENST00000264436	14	160608

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.996	0.00390	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.10	316	440	0.719	0.0000266	4760
Missense in Polyphen		98	164.64	0.59524		1729
Synonymous	-0.387	195	188	1.04	0.0000131	1414
Loss of Function	5.00	5	38.4	0.130	0.00000232	399

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000937	0.0000937
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000557	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit. {ECO:0000269|PubMed:18347014}.
• Pathway: Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Recessive Scores

• pRec: 0.193

Intolerance Scores

• loftool: 0.486
• rvis_EVS: -0.26
• rvis_percentile_EVS: 34.95

Haploinsufficiency Scores

• pHI: 0.608
• hipred: Y
• hipred_score: 0.801
• ghis: 0.638

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.797

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Add2
• Phenotype: homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; renal/urinary system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype

Gene ontology

• Biological process: synapse assembly;actin cytoskeleton organization;hemopoiesis;positive regulation of protein binding;leukocyte migration;leukocyte tethering or rolling;barbed-end actin filament capping;actin filament bundle assembly;transmembrane transport;protein-containing complex assembly
• Cellular component: cytosol;cytoskeleton;F-actin capping protein complex;postsynaptic density;cytoplasmic vesicle;plasma membrane raft
• Molecular function: actin binding;structural molecule activity;calmodulin binding;protein kinase binding;spectrin binding;protein homodimerization activity;protein heterodimerization activity;actin filament binding