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    ADD2 adducin 2 [ Homo sapiens (human) ]

    Gene ID: 119, updated on 7-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADD2 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70656784..70768200, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70667847..70779251, complement)
    105.20220307 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 uncharacterized LOC107985895 Neighboring gene TGFA intronic transcript 1 Neighboring gene transforming growth factor alpha Neighboring gene Sharpr-MPRA regulatory region 10182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70741406-70741908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70751144-70751760 Neighboring gene uncharacterized LOC124907824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11613 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:70796083-70797282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:70823358-70824557 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:70847073-70847578 Neighboring gene uncharacterized LOC105374794 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:70904853-70906052 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:70937501-70938030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:70939798-70940354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70940355-70940910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70940911-70941466 Neighboring gene Sharpr-MPRA regulatory region 8528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70963227-70963968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70971761-70972262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70994467-70995032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70995033-70995598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70996008-70996572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16008 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:71027218-71027772 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

    EBI GWAS Catalog

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

    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

    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
     
    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

    Preferred Names
    beta-adducin
    Names
    adducin 2 (beta)
    erythrocyte adducin subunit beta

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      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: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
      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: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/TrEMBL
      Q05DK5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011532502.3XP_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: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). ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      70667847..70779251 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340427.1XP_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

    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.