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ADD2 adducin 2 [ Homo sapiens (human) ]

Gene ID: 119, updated on 2-Mar-2021

Summary

Official Symbol
ADD2provided by HGNC
Official Full Name
adducin 2provided by HGNC
Primary source
HGNC:HGNC:244
See related
Ensembl:ENSG00000075340 MIM:102681
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
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Genomic context

See ADD2 in Genome Data Viewer
Location:
2p13.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70656784..70768200, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70883916..70995332, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tRNA-undetermined (NNN) 9-1 Neighboring gene uncharacterized LOC107985895 Neighboring gene transforming growth factor alpha Neighboring gene TGFA intronic transcript 1 Neighboring gene uncharacterized LOC105374794 Neighboring gene folliculogenesis specific bHLH transcription factor Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 21

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
spectrin binding IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IC
Inferred by Curator
more info
PubMed 
actin filament bundle assembly IDA
Inferred from Direct Assay
more info
PubMed 
barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
barbed-end actin filament capping IDA
Inferred from Direct Assay
more info
PubMed 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
leukocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
leukocyte tethering or rolling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
synapse assembly IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
F-actin capping protein complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane raft IMP
Inferred from Mutant Phenotype
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

  1. NG_029481.2 RefSeqGene

    Range
    5044..116460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001185054.2NP_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
    P35612
    UniProtKB/TrEMBL
    Q05DK5
    Related
    ENSP00000384677.2, ENST00000407644.6
    Conserved Domains (2) summary
    PRK13108
    Location:509647
    PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
    cl00214
    Location:130379
    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). ...
  2. NM_001185055.2NP_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:146356
    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). ...
  3. NM_001617.4NP_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
    P35612
    UniProtKB/TrEMBL
    Q05DK5
    Related
    ENSP00000264436.3, ENST00000264436.9
    Conserved Domains (2) summary
    PRK13108
    Location:509647
    PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
    cl00214
    Location:130379
    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). ...
  4. NM_017482.4NP_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:130340
    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). ...
  5. NM_017488.4NP_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/Swiss-Prot
    P35612
    Related
    ENSP00000347972.3, ENST00000355733.7
    Conserved Domains (1) summary
    cl00214
    Location:130379
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    70656784..70768200 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532502.2XP_011530804.1  beta-adducin isoform X1

    See identical proteins and their annotated locations for XP_011530804.1

    UniProtKB/Swiss-Prot
    P35612
    Conserved Domains (2) summary
    PRK13108
    Location:509647
    PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
    cl00214
    Location:130379
    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). ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
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