ADD2 adducin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADD2provided by HGNC
Official Full Name: adducin 2provided by HGNC
Primary source: HGNC:HGNC:244
See related: Ensembl:ENSG00000075340 MIM:102681; AllianceGenome:HGNC:244
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADDB
Summary: Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
Expression: Biased expression in brain (RPKM 14.9), bone marrow (RPKM 7.7) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (70656784..70768200, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (70667847..70779251, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (70883916..70995332, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

betaadducin was demonstrated to have a critical role in neutrophil migration.
Title: Lipid raft‑associated β‑adducin participates in neutrophil migration.
Aberrant DNA methylation of ADD2 could be potential screening markers of colorectal cancer.
Title: Discovery and Validation of Hypermethylated Markers for Colorectal Cancer.
Study evaluated effects of ADD genetic variability on cognitive functions in a sample of patients with schizophrenia, known to show a wide and heterogeneous neuropsychological deficit and found that ADD2 C1797T polymorphism showed diffuse effects on almost every cognitive domain.
Title: ADDing a piece to the puzzle of cognition in schizophrenia.
ADD2 and NCX1 variants influence the risk and the clinical features of systemic lupus erythematosus and lupus nephritis.
Title: Beta-adducin and sodium-calcium exchanger 1 gene variants are associated with systemic lupus erythematosus and lupus nephritis.
Taken together, these results show that beta-adducin is a pivotal lipid raft-associated protein in PSGL-1-mediated neutrophil rolling on P-selectin.
Title: Lipid raft-associated β-adducin is required for PSGL-1-mediated neutrophil rolling on P-selectin.
chorein interacts with beta-adducin and beta-actin.
Title: Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.
phosphorylation of beta-adducin by GSK3 promotes efficient neurite outgrowth in neurons.
Title: Bioinformatic prediction and confirmation of beta-adducin as a novel substrate of glycogen synthase kinase 3.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
ALPHA AND BETA ADDUCIN POLYMORPHISMS AFFECT DECLINE OF RENAL FUNCTION IN HUMAN IGA NEPHROPATHY.
Title: alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of adducin 2, beta (ADD2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IB387 (e-PCR)
- UniSTS:28931

SHGC-30541 (e-PCR)
- UniSTS:61978

WI-11693 (e-PCR)
- UniSTS:65390

A004B15 (e-PCR)
- UniSTS:67197

WI-13671 (e-PCR)
- UniSTS:3753

RH12820 (e-PCR)
- UniSTS:51958

WI-4105 (e-PCR)
- UniSTS:506

SHGC-142110 (e-PCR)
- UniSTS:171260

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables protein dimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of cytoskeleton	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IC Inferred by Curator more info	PubMed
involved_in actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in barbed-end actin filament capping	IDA Inferred from Direct Assay more info	PubMed
involved_in hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in leukocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leukocyte tethering or rolling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in synapse assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of F-actin capping protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane raft	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: beta-adducin

Names: adducin 2 (beta); erythrocyte adducin subunit beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029481.2 RefSeqGene

Range

5044..116460

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001185054.2 → NP_001171983.1 beta-adducin isoform a

See identical proteins and their annotated locations for NP_001171983.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Both variants 1 and 5 encode the same isoform (a).

Source sequence(s)

AC005234, BC010237, BC065525, N53078

Consensus CDS

CCDS1906.1

UniProtKB/Swiss-Prot

A8K4P2, B4DM17, D6W5G7, D6W5G8, P35612, Q13482, Q16412, Q59G82, Q5U5P4, Q6P0P2, Q6PGQ4, Q7Z688, Q7Z689, Q7Z690, Q7Z691

UniProtKB/TrEMBL

Q05DK5

Related

ENSP00000384677.2, ENST00000407644.6

Conserved Domains (2) summary

PRK13108
Location:509 → 647

PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_001185055.2 → NP_001171984.1 beta-adducin isoform f

See identical proteins and their annotated locations for NP_001171984.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an upstream start codon, compared to variant 1. This variant also differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (f) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AB209227, AK309773, BC010237, BX119247, DA501584

Consensus CDS

CCDS54365.1

UniProtKB/Swiss-Prot

P35612

UniProtKB/TrEMBL

Q05DK5

Related

ENSP00000398112.1, ENST00000430656.5

Conserved Domains (1) summary

cd00398
Location:146 → 356

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_001617.4 → NP_001608.1 beta-adducin isoform a

See identical proteins and their annotated locations for NP_001608.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). Both variants 1 and 5 encode the same isoform (a).

Source sequence(s)

AC005234, BC010237, BC065525, DA501584, N53078

Consensus CDS

CCDS1906.1

UniProtKB/Swiss-Prot

A8K4P2, B4DM17, D6W5G7, D6W5G8, P35612, Q13482, Q16412, Q59G82, Q5U5P4, Q6P0P2, Q6PGQ4, Q7Z688, Q7Z689, Q7Z690, Q7Z691

UniProtKB/TrEMBL

Q05DK5

Related

ENSP00000264436.3, ENST00000264436.9

Conserved Domains (2) summary

PRK13108
Location:509 → 647

PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_017482.4 → NP_059516.2 beta-adducin isoform b

See identical proteins and their annotated locations for NP_059516.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AB209227, BX119247

Consensus CDS

CCDS46318.1

UniProtKB/Swiss-Prot

P35612

Related

ENSP00000388072.2, ENST00000413157.6

Conserved Domains (1) summary

cd00398
Location:130 → 340

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_017488.4 → NP_059522.1 beta-adducin isoform e

See identical proteins and their annotated locations for NP_059522.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) includes an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform e) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC005234, BC041666, BC065525, DA501584, N53078

Consensus CDS

CCDS1909.1

UniProtKB/TrEMBL

Q05DK5

Related

ENSP00000347972.3, ENST00000355733.7

Conserved Domains (1) summary

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

70656784..70768200 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532502.3 → XP_011530804.1 beta-adducin isoform X1

See identical proteins and their annotated locations for XP_011530804.1

UniProtKB/Swiss-Prot

A8K4P2, B4DM17, D6W5G7, D6W5G8, P35612, Q13482, Q16412, Q59G82, Q5U5P4, Q6P0P2, Q6PGQ4, Q7Z688, Q7Z689, Q7Z690, Q7Z691

UniProtKB/TrEMBL

Q05DK5

Conserved Domains (2) summary

PRK13108
Location:509 → 647

PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

70667847..70779251 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340427.1 → XP_054196402.1 beta-adducin isoform X1

UniProtKB/Swiss-Prot

A8K4P2, B4DM17, D6W5G7, D6W5G8, P35612, Q13482, Q16412, Q59G82, Q5U5P4, Q6P0P2, Q6PGQ4, Q7Z688, Q7Z689, Q7Z690, Q7Z691

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_017483.2: Suppressed sequence

Description

NM_017483.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_017484.2: Suppressed sequence

Description

NM_017484.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_017485.1: Suppressed sequence

Description

NM_017485.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_017486.1: Suppressed sequence

Description

NM_017486.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_017487.1: Suppressed sequence

Description

NM_017487.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.