ADD2 - adducin 2 Gene

Homo sapiens

Also known as ADDB

Gene ID: 119 | Gene type: protein coding

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00339	ADD2 Human Pre-designed siRNA Set A		/	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