ADD2

adducin 2, the group of Adducin family

Basic information

Region (hg38): 2:70607618-70768225

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.

not_specified (75 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. These statistics are base on transcript: NM_000001617.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense			71 clinvar	3 clinvar	3 clinvar	77
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	6	3

Loading clinvar variants...

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