1: ADD2 adducin 2 (beta) [ Homo sapiens ]

GeneID: 119 updated 8-Nov-2009

[Top][Help]Summary

Official Symbol
ADD2provided by HGNC
Official Full Name
adducin 2 (beta)provided by HGNC
Primary Source
HGNC:244
See related
Ensembl:ENSG00000075340; HPRD:00037; 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; ADD2
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. Various adducin beta mRNAs, alternatively spliced at 3'end and/or internally spliced and encoding different isoforms, have been described. The functions of all the different isoforms are not known. [provided by RefSeq]

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 2; Location: 2p14-p13See ADD2 in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
PubMed 2. Observational study of gene-disease association. (HuGE Navigator)
PubMed 3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
PubMed 4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
PubMed 5. hypertension candidate gene variation may influence BP responses to specific antihypertensive drug therapies and measurement of genetic variation may assist in identifying subgroups of hypertensive patients benefiting from antihypertensive drug therapies
PubMed 6. Expression of the hypertensive rat or human variant of adducin into normal renal epithelial cells recreates the hypertensive phenotype with higher Na+,K+-ATPase activity, mu2-subunit hyperphosphorylation, and impaired Na+,K+-ATPase endocytosis.
PubMed 7. The very high levels of expression of ADD2 suggest that its promoter may be useful for directing erythroid-specific gene expression.
PubMed 8. Polymorphisms in the ADD2 and ADD3 genes taken alone were not associated with blood pressure and renin activity
PubMed 9. beta-adducin is a downstream target of and regulated by the PTN/RPTPbeta/zeta signaling pathway
PubMed 10. Changes in intra-erythrocyte cations in ADD2 1797CC homozygous men might lead to osmotic fragility of erythrocytes, but to what extent they reflect systemic changes or are possibly involved in blood pressure regulation remains unknown.
PubMed 11. there was significant heterogeneity between Slavic and Italian subjects in the phenotype-genotype relationships with beta-adducin
Submit: New GeneRIF Correction

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
 
  NP_001608.1   NP_054908.1   ADD1      HPRD    PubMed
 
  NP_001608.1   NP_008819.1   CALM1      HPRD    PubMed
 
  NP_001608.1   Fyn   FYN      HPRD    PubMed
 
  NP_001608.1   Rabphilin 3A   RPH3A      HPRD    PubMed
 
  NP_001608.1   Rabphilin 3A   RPH3A      HPRD    PubMed
 
  NP_001608.1   NP_003118.1   SPTAN1      HPRD    PubMed
 
  NP_001608.1   NP_003118.1   SPTAN1      HPRD    PubMed
 
  NP_001608.1   Rabphilin-3A        HPRD    PubMed
Affinity Capture-Western; Reconstituted Complex
  BioGRID:106632   BioGRID:108810   FYN      BioGRID    PubMed
Reconstituted Complex
  BioGRID:106632   BioGRID:116560   RPH3A      BioGRID    PubMed

[Top][Help]General gene information

Markers

IB387(e-PCR)
Links: UniSTS:28931
SHGC-30541(e-PCR)
Links: UniSTS:61978
WI-11693(e-PCR)
Links: UniSTS:65390
A004B15(e-PCR)
Links: UniSTS:67197
WI-13671(e-PCR)
Links: UniSTS:3753
RH12820(e-PCR)
Links: UniSTS:51958
WI-4105(e-PCR)
Links: UniSTS:506
SHGC-142110(e-PCR)
Links: UniSTS:171260

Homology

Homologs of the ADD2 gene The ADD2 gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish.


Map Viewer (Mouse, Rat)

[Top][Help]General protein information

Preferred Names
adducin 2
Names
adducin 2
beta adducin
Adducin-2 (beta)
OTTHUMP00000203378
OTTHUMP00000203908

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_001617.2 → NP_001608.1  adducin 2 isoform a

    Description
    Transcript Variant: Transcript variant beta-1 contains exons 1-14, 16 and 17 and encodes the longest adducin beta isoform (a) of 726 amino acids. It was this isoform that was originally isolated from erythrocytes and implicated in the regulation of blood pressure in an animal model of hypertension.
    Source sequence(s)
    BC008709,BC010237,CN428088
    Consensus CDS
    CCDS1906.1
    UniProtKB/TrEMBL
    A8K4P2
    UniProtKB/Swiss-Prot
    P35612
    UniProtKB/TrEMBL
    Q05DK5
    UniProtKB/TrEMBL
    Q96HD4
    Conserved Domains (1) summary
    cd00398
    Location:130 – 340
    Blast Score: 537
    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_017482.2 → NP_059516.2  adducin 2 isoform b

    Description
    Transcript Variant: Transcript variant beta-2 lacks the 3'-terminal exons (14-17), and encodes a truncated adducin beta isoform (b) of 559 amino acids as a result of termination at an in-frame stop codon downstream of exon 13. Thus, isoform b does not contain the highly basic carboxy terminus of isoform a, and may have a different functional role.
    Source sequence(s)
    BC010237,BC027876,CN428088
    Consensus CDS
    CCDS46318.1
    UniProtKB/TrEMBL
    Q05DK5
    Conserved Domains (1) summary
    cd00398
    Location:130 – 340
    Blast Score: 532
    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_017483.2 → NP_059517.1  adducin 2 isoform c

    Description
    Transcript Variant: Transcript variant beta-3a contains exons 1-6 followed by an intra-exon splicing that joins the first 6 nt of exon 7 to the last 24 nt of exon 12a, followed by the rest of the 3'-terminal exons as seem in transcript variant beta-1. The large internal deletion results in the loss of 306 amino acids. Therefore, transcript variant beta-3a encodes an isoform (c) of 420 amino acids with a carboxy terminus similar to isoform a.
    Source sequence(s)
    BC008709,BC010237,CN428088
    Consensus CDS
    CCDS46317.1
    UniProtKB/TrEMBL
    Q05DK5
    UniProtKB/TrEMBL
    Q96HD4
    Conserved Domains (1) summary
    cl00214
    Location:130 – 187
    Blast Score: 133
    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_017484.2 → NP_059518.2  adducin 2 isoform d

    Description
    Transcript Variant: Transcript variant beta-3b contains the same internal deletion as transcript variant beta-3a, however, the 3'-terminal exons are as in transcript variant beta-2. Therefore, transcript variant beta-3b encodes an isoform (d) of 253 amino acids with a carboxy terminus similar to isoform b.
    Source sequence(s)
    BC010237,BC027876,CN428088
    Consensus CDS
    CCDS46319.1
    UniProtKB/TrEMBL
    Q05DK5
    Conserved Domains (1) summary
    cl00214
    Location:130 – 187
    Blast Score: 132
    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_017488.2 → NP_059522.1  adducin 2 isoform e

    Description
    Transcript Variant: Transcript variant beta-4 contains all 17 exons including exon 15, which results in a frame-shift and use of an alternate stop codon. Therefore, this transcript variant encodes an isoform (e) of 643 amino acids with the first 580 amino acids identical to that of isoform a, but with a different carboxy-terminal 63 amino acids. Isoform e thus lacks the highly basic carboxy terminus of isoform a, and may have a different functional role.
    Source sequence(s)
    BC008709,BC041666,CN428088
    Consensus CDS
    CCDS1909.1
    UniProtKB/Swiss-Prot
    P35612
    UniProtKB/TrEMBL
    Q96HD4
    Conserved Domains (1) summary
    cd00398
    Location:130 – 340
    Blast Score: 536
    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: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000002.11

    Range
    70889261..70995328, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_022184.15 

    Range
    49711148..49817215, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000045.1

    Range
    70739940..70846005, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_927719.1 

    Range
    70671875..70777940, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000134.1

    Range
    70626328..70732256, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001838769.1 

    Range
    40722572..40828500, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

 

  1. 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.

  2. 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.

  3. 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.

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AC005234.1   AAD12715.1
  genomic   AC007395.3   None
  genomic   AF001597.1   None
  genomic   CH471053.2   EAW99798.1
       EAW99799.1
       EAW99800.1
       EAW99801.1
       EAW99802.1
       EAW99803.1
       EAW99804.1
       EAW99805.1
       EAW99806.1
       EAW99807.1
       EAW99808.1
  genomic   S81079.1   AAD14349.1
  genomic   S81083.1   None
  mRNA   AB209227.1   BAD92464.1
  mRNA   AF486420.1   AAP71863.1
  mRNA   AF486421.1   AAP71864.1
  mRNA   AF486422.1   AAP71865.1
  mRNA   AF486423.1   AAP71866.1
  mRNA   AK291007.1   BAF83696.1
  mRNA   AK297250.1   BAG59729.1
  mRNA   AK309773.1   None
  mRNA   BC008709.1   AAH08709.1
  mRNA   BC010237.1   AAH10237.1
  mRNA   BC011416.1   None
  mRNA   BC027876.1   None
  mRNA   BC041666.1   AAH41666.1
  mRNA   BC051882.1   AAH51882.1
  mRNA   BC056881.1   AAH56881.1
  mRNA   BC065525.1   AAH65525.1
  mRNA   CN428088.1   None
  mRNA   CR590670.1   None
  mRNA   U43959.1   AAA86421.1
Protein Accession   Links
P35612.3   GenPept   UniProtKB/Swiss-Prot:P35612
Q05DK5   GenPept   UniProtKB/TrEMBL:Q05DK5
Q96HD4   GenPept   UniProtKB/TrEMBL:Q96HD4

[Top][Help]Additional Links

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.