ADD2 - adducin 2 Gene

Also Known as ADDB

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 119

About ADD2

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:70,656,784-70,768,200 (from NCBI)

This gene has 14 transcripts (splice variants), 214 orthologues and 2 paralogues. Biased expression in brain (RPKM 14.9), bone marrow (RPKM 7.7) and 4 other tissues.

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]

ADD2 Products (5)

mRNA Protein Name
NM_001185054.2 NP_001171983.1 beta-adducin isoform a
NM_001185055.2 NP_001171984.1 beta-adducin isoform f
NM_001617.4 NP_001608.1 beta-adducin isoform a
NM_017482.4 NP_059516.2 beta-adducin isoform b
NM_017488.4 NP_059522.1 beta-adducin isoform e

ADD2 Protein Structure

Aldolase_II

Aldolase_II: Class II Aldolase and Adducin N-terminal domain (136 - 317)

  • 0
  • 200
  • 400
  • 600
  • 726 a.a.
Protein Preferred Names Protein Names

beta-adducin

  • adducin 2 (beta)

Related Diseases

Diseases Alias
Hereditary Elliptocytosis

  • Congenital Elliptocytosis

  • Ovalocytosis

  • Elliptocytosis, Hereditary

  • He

  • Elliptocytosis Hereditary

  • Congenital Ovalocytosis

  • Elliptocytosis

  • Hereditary Elliptocytosis With Infantile Poikilocytosis

  • Hereditary Ovalocytosis

  • Oval Erythrocytosis

  • He - [Hereditary Elliptocytosis]

  • Elliptocytosis Anaemia
Hereditary Spherocytosis

  • Congenital Spherocytic Hemolytic Anemia

  • Spherocytic Anemia

  • Congenital Spherocytosis

  • Spherocytosis, Type 1

  • Minkowski Chauffard Syndrome

  • Hs

  • Minkowski-Chauffard Disease

  • Minkowski-Chauffard Syndrome

  • Spherocytosis Hereditary

  • Spherocytosis, Hereditary

  • Anemia, Hereditary Spherocytic Hemolytic
Hypertension, Essential

  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration
Choreoacanthocytosis

  • Chorea-Acanthocytosis

  • CHAC

  • Acanthocytosis With Neurologic Disorder

  • Levine-Critchley Syndrome

  • Choreaacanthocytosis

  • Chorea Acanthocytosis

  • Neuroacanthocytosis

  • Levine-Critchley Syndrome, Formerly

  • Neuroacanthocytosis, Formerly

  • Choreo-Acanthocytosis

  • Acanthocytosis Chorea

  • Chorea Acanthocytosis Syndrome
Neuroacanthocytosis

  • Neuroacanthocytosis Syndrome
Diamond-Blackfan Anemia 1

  • Aase Syndrome

  • DBA1

  • Erythrogenesis Imperfecta

  • Aase-Smith Syndrome Ii

  • Dba

  • Blackfan-Diamond Syndrome

  • Bds

  • Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

  • Anemia, Congenital Erythroid Hypoplastic

  • Red Cell Aplasia, Pure, Hereditary

  • Aregenerative Anemia, Chronic Congenital

  • Rps19-Related Diamond-Blackfan Anemia

  • Chronic Congenital Aregenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Diamond-Blackfan, Type 1

  • Anemia, Diamond-Blackfan

  • Aase Smith Syndrome 2

  • Familial Hypoplastic Anaemia With Malformations

  • Constitutional Pure Red Cell Aplasia
Deficiency Anemia

  • Anemia

  • Deficiency Anemias

  • Anaemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00339 ADD2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18905 Add2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25396 Add2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus ADD2 VGNC VGNC:25654
Rattus norvegicus ADD2 RGD RGD:2042
Canis familiaris ADD2 VGNC VGNC:37629
Felis catus ADD2 VGNC VGNC:59625
Mus musculus ADD2 MGD MGI:87919
Macaca mulatta ADD2 VGNC VGNC:69529
Others ADD2 NCBI