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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 ubiquito... See more...
Aliases for ADD2 Gene
Aliases for ADD2 Gene
External Ids for ADD2 Gene
- HGNC: 244
- NCBI Entrez Gene: 119
- Ensembl: ENSG00000075340
- OMIM®: 102681
- UniProtKB/Swiss-Prot: P35612
Previous GeneCards Identifiers for ADD2 Gene
- GC02M070898
- GC02M071100
- GC02M070863
- GC02M070800
Summaries for ADD2 Gene
-
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]
GeneCards Summary for ADD2 Gene
ADD2 (Adducin 2) is a Protein Coding gene. Diseases associated with ADD2 include Hereditary Elliptocytosis and Hereditary Spherocytosis. Among its related pathways are Aquaporin-mediated transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and actin binding. An important paralog of this gene is ADD3.
UniProtKB/Swiss-Prot Summary for ADD2 Gene
-
Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit.
Additional gene information for ADD2 Gene
- HGNC (244)
- NCBI Entrez Gene (119)
- Ensembl (ENSG00000075340)
- OMIM® (102681)
- UniProtKB/Swiss-Prot (P35612)
- Open Targets Platform(ENSG00000075340)
- Alliance of Genome Resources
- Search for ADD2 at DataMed
- Search for ADD2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADD2 Gene
Genomics for ADD2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ADD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ADD2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADD2
- Top Transcription factor binding sites by QIAGEN in the ADD2 gene promoter:
-
- c-Ets-1
- NF-kappaB
- NF-kappaB1
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
- TBP
- TFIID
Genomic Locations for ADD2 Gene
Latest Assembly
- chr2:70,607,618-70,768,225
- (GRCh38/hg38)
- Size:
- 160,608 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:70,883,916-70,995,332
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 111,417 bases
- Orientation:
- Minus strand
Genomic View for ADD2 Gene
Genes around ADD2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p13.3 by HGNC
- 2p13.3 by Entrez Gene
- 2p13.3 by Ensembl
ADD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ADD2 Gene
Proteins for ADD2 Gene
-
Protein details for ADD2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35612-ADDB_HUMAN
- Recommended name:
- Beta-adducin
- Protein Accession:
- P35612
- A8K4P2
- B4DM17
- D6W5G7
- D6W5G8
- Q13482
- Q16412
- Q59G82
- Q5U5P4
- Q6P0P2
- Q6PGQ4
- Q7Z688
- Q7Z689
- Q7Z690
- Q7Z691
Protein attributes for ADD2 Gene
- Size:
- 726 amino acids
- Molecular mass:
- 80854 Da
- Quaternary structure:
-
- Heterodimer of an alpha and a beta subunit. Found in a complex with ADD2, DMTN and SLC2A1. Interacts with SLC2A1.
- SequenceCaution:
-
- Sequence=BAD92464.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for ADD2 Gene
Post-translational modifications for ADD2 Gene
- The N-terminus is blocked.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ADD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ ADD2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ADD2
- Novus Biologicals Antibodies for ADD2
-
Abcam antibodies for ADD2
- Invitrogen Antibodies for ADD2 (AFLGC-Add2)
-
Biorbyt antibodies for ADD2
-
Custom Antibody ServicesProSci Antibodies for ADD2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ADD2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for ADD2
- Origene Custom Protein Services for ADD2
-
Abcam proteins for ADD2
Assay products for research
- antibodies-online: Show 3 available ADD2 Elisa Kits ranked by validation data
- Compare Top ADD2 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for ADD2
No data available for DME Specific Peptides for ADD2 Gene
Domains & Families for ADD2 Gene
Gene Families for ADD2 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ADD2 Gene
- InterPro:
- Blocks:
-
- Class II aldolase/adducin, N-terminal
Suggested Antigen Peptide Sequences for ADD2 Gene
- GenScript: Design optimal peptide antigens:
-
- Erythrocyte adducin subunit beta (ADDB_HUMAN)
- cDNA FLJ61313, highly similar to Beta-adducin (B4DM17_HUMAN)
- ADD2 protein (Q05DK5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35612UniProtKB/Swiss-Prot:
ADDB_HUMAN :- Each subunit is comprised of three regions: a NH2-terminal protease-resistant globular head region, a short connecting subdomain, and a protease-sensitive tail region.
- Belongs to the aldolase class II family. Adducin subfamily.
- Domain:
-
- Each subunit is comprised of three regions: a NH2-terminal protease-resistant globular head region, a short connecting subdomain, and a protease-sensitive tail region.
- Family:
-
- Belongs to the aldolase class II family. Adducin subfamily.
Function for ADD2 Gene
Molecular function for ADD2 Gene
- UniProtKB/Swiss-Prot Function:
- Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit.
- GENATLAS Biochemistry:
- adducin beta,actin accessory protein,calmodulin binding protein,97kDa,component of the erythrocyte membrane skeleton,also expressed in brain,kidney,liver,intestine,leukocytes,platelets
Phenotypes From GWAS Catalog for ADD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IMP | 25425738 |
| GO:0005198 | structural molecule activity | IBA | -- |
| GO:0005200 | structural constituent of cytoskeleton | IEA | -- |
| GO:0005516 | calmodulin binding | IEA | -- |
| GO:0019901 | protein kinase binding | IPI | 25425738 |
Phenotypes for ADD2 Gene
- MGI mutant phenotypes for ADD2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ADD2:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ADD2 - Starting at $85 >
- * ADD2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ADD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADD2
miRNA for ADD2 Gene
- miRTarBase miRNAs that target ADD2
-
- hsa-miR-1301-3p (MIRT035978)
- hsa-miR-107 (MIRT048288)
- hsa-miR-6825-5p (MIRT490824)
- hsa-miR-7106-5p (MIRT490826)
- hsa-miR-6797-5p (MIRT490827)
- hsa-miR-1249-5p (MIRT490828)
- hsa-miR-650 (MIRT490829)
- hsa-miR-765 (MIRT490830)
- hsa-miR-3612 (MIRT490831)
- hsa-miR-4644 (MIRT490832)
- hsa-miR-4306 (MIRT490833)
- hsa-miR-185-5p (MIRT490834)
- hsa-miR-4722-5p (MIRT490835)
- hsa-miR-6130 (MIRT490836)
- hsa-miR-6133 (MIRT490837)
- hsa-miR-6129 (MIRT490838)
- hsa-miR-6127 (MIRT490839)
- hsa-miR-4510 (MIRT490840)
- hsa-miR-4419a (MIRT490841)
- hsa-miR-1827 (MIRT490842)
- hsa-miR-3150b-3p (MIRT490843)
- hsa-miR-4784 (MIRT490844)
- hsa-miR-4459 (MIRT490845)
- hsa-miR-940 (MIRT490846)
- hsa-miR-6893-5p (MIRT490847)
- hsa-miR-4779 (MIRT490848)
- hsa-miR-6808-5p (MIRT490849)
- hsa-miR-4695-5p (MIRT490850)
- hsa-miR-6856-5p (MIRT490851)
- hsa-miR-6758-5p (MIRT490852)
- hsa-miR-4762-3p (MIRT539406)
- hsa-miR-384 (MIRT539407)
- hsa-miR-3685 (MIRT539408)
- hsa-miR-3192-3p (MIRT539409)
- hsa-miR-1290 (MIRT539410)
- hsa-miR-3151-3p (MIRT539411)
- hsa-miR-5009-3p (MIRT539412)
- hsa-miR-190a-3p (MIRT708213)
- hsa-miR-374b-5p (MIRT708214)
- hsa-miR-374a-5p (MIRT708215)
- hsa-miR-223-5p (MIRT708216)
- hsa-miR-511-3p (MIRT708217)
- hsa-miR-5011-5p (MIRT708218)
- hsa-miR-5692c (MIRT708219)
- hsa-miR-5692b (MIRT708220)
- hsa-miR-369-3p (MIRT708221)
- hsa-miR-3163 (MIRT708222)
- hsa-miR-5583-3p (MIRT708223)
- hsa-miR-4517 (MIRT708224)
- hsa-miR-1277-5p (MIRT708225)
- hsa-miR-410-3p (MIRT708226)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADD2
- Browse OriGene Inhibitory RNA Products For ADD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADD2
Clone products for research
- Applied Biological Materials (abm): Clones for ADD2 - Starting at $45 >
- * ADD2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208912
- MG223395
- MR208912
- MR208912L3
- MR208912L4
- MR223395
- MR223395L3
- MR223395L4
- MR230527
- MR230528
- MR230990
- MR230991
- MR230992
- RC207895
- RC207895L3
- RC207895L4
- RC209517
- RC209517L3
- RC209517L4
- RC212102
- RC212102L3
- RC212102L4
- RC230299
- RC230299L3
- RC230299L4
- RC230458
- RC230458L3
- RC230458L4
- RG207895
- RG209517
- RG212102
- RG230299
- RG230458
- RR200528
- RR200528L3
- RR200528L4
- RR200529
- RR200529L3
- RR200529L4
- MR208912L3V
- MR208912L4V
- MR223395L3V
- MR223395L4V
- RC207895L3V
- RC207895L4V
- RC209517L3V
- RC209517L4V
- RC212102L3V
- RC212102L4V
- RC230299L3V
- RC230299L4V
- RC230458L3V
- RC230458L4V
- RR200528L3V
- RR200528L4V
- RR200529L3V
- RR200529L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ADD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADD2
Cell Lines for research
-
Horizon Cell Lines for ADD2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADD2 Gene
Localization for ADD2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ADD2 Gene
- Cytoplasm, cytoskeleton. Cell membrane. Peripheral membrane protein. Cytoplasmic side.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
- Cytosol (2)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IEA,IBA | 21873635 |
| GO:0005886 | plasma membrane | IEA,IBA | 21873635 |
| GO:0008290 | F-actin capping protein complex | IDA | 8626479 |
Pathways & Interactions for ADD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
| 2 | Miscellaneous transport and binding events | ||
| 3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 4 | Aquaporin-mediated transport |
Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
.40
|
|
Pathways by source for ADD2 Gene
2 Reactome pathways for ADD2 Gene
1 GeneGo (Thomson Reuters) pathway for ADD2 Gene
- Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
4 Qiagen pathways for ADD2 Gene
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- cAMP Pathway
- PKA Signaling
Interacting Proteins for ADD2 Gene
GPS-Prot Interaction Network for ADD2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007416 | synapse assembly | IEA | -- |
| GO:0030036 | actin cytoskeleton organization | IC | 3693401 |
| GO:0030097 | hemopoiesis | IEA | -- |
| GO:0032092 | positive regulation of protein binding | IDA | 3693401 |
| GO:0050900 | leukocyte migration | IMP | 25425738 |
Transcripts for ADD2 Gene
mRNA/cDNA for ADD2 Gene
- 10 REFSEQ mRNAs :
- 23 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264436 9290 nts (view in UCSC)
- ENST00000355733 2654 nts (view in UCSC)
- ENST00000403045 3745 nts (view in UCSC)
- ENST00000407644 3741 nts (view in UCSC)
- ENST00000413157 3776 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ADD2 - Starting at $85 >
- * ADD2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ADD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADD2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADD2
- Browse OriGene Inhibitory RNA Products For ADD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADD2
Clone products for research
- Applied Biological Materials (abm): Clones for ADD2 - Starting at $45 >
- * ADD2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208912
- MG223395
- MR208912
- MR208912L3
- MR208912L4
- MR223395
- MR223395L3
- MR223395L4
- MR230527
- MR230528
- MR230990
- MR230991
- MR230992
- RC207895
- RC207895L3
- RC207895L4
- RC209517
- RC209517L3
- RC209517L4
- RC212102
- RC212102L3
- RC212102L4
- RC230299
- RC230299L3
- RC230299L4
- RC230458
- RC230458L3
- RC230458L4
- RG207895
- RG209517
- RG212102
- RG230299
- RG230458
- RR200528
- RR200528L3
- RR200528L4
- RR200529
- RR200529L3
- RR200529L4
- MR208912L3V
- MR208912L4V
- MR223395L3V
- MR223395L4V
- RC207895L3V
- RC207895L4V
- RC209517L3V
- RC209517L4V
- RC212102L3V
- RC212102L4V
- RC230299L3V
- RC230299L4V
- RC230458L3V
- RC230458L4V
- RR200528L3V
- RR200528L4V
- RR200529L3V
- RR200529L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ADD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADD2
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | · | 9e | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - |
| ExUns: | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||
| SP2: | - | - | |||||||||||||
| SP3: | - | - | |||||||||||||
| SP4: | |||||||||||||||
| SP5: | |||||||||||||||
| SP6: | |||||||||||||||
| SP7: | |||||||||||||||
| SP8: | |||||||||||||||
| SP9: | |||||||||||||||
| SP10: | |||||||||||||||
| SP11: |
Relevant External Links for ADD2 Gene
- GeneLoc Exon Structure for
- ADD2
Expression for ADD2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Cerebellum
- Medulla Oblongata
- Cerebral Cortex
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Inner Cell Mass (Early Embryonic Tissues)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
- Thyroid (Endocrine System)
- Neural Tube (Nervous System)
- Intestine (Gastrointestinal Tract)
- Liver (Hepatobiliary System)
- Ovary (Reproductive System)
-
Eye (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for ADD2 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.0), Brain - Cerebellum (x5.9), Brain - Frontal Cortex (BA9) (x5.2), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Cortex (x4.5).
This gene is overexpressed in Brain (27.3), Frontal cortex (26.1), and Fetal Brain (8.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADD2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADD2
SOURCE GeneReport for Unigene cluster for ADD2 Gene:
Hs.188528mRNA Expression by UniProt/SwissProt for ADD2 Gene:
P35612-ADDB_HUMAN
Tissue specificity:
Expressed mainly in brain, spleen, kidney cortex and medulla, and heart. Also expressed in human umbilical vein endothelial cells, human vascular smooth muscle cells, kidney tubular cells and K-562 cell line.
Evidence on tissue expression from TISSUES for ADD2 Gene
- Nervous system(5)
- Blood(4.5)
- Eye(4.5)
- Heart(4.5)
- Bone marrow(4.4)
- Liver(4.4)
Primer products for research
-
OriGene qPCR primer pairs for ADD2
-
OriGene qPCR primer pairs and template standards for ADD2
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADD2 Gene
Orthologs for ADD2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ADD2 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ADD2 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ADD2 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ADD2 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Add2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Add2 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | ADD2 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ADD2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | add2 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | add2 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | hts 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | add-1 30 |
|
ManyToMany | |
| add-2 30 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for ADD2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ADD2 Gene
- ENSEMBL:
- Gene Tree for ADD2 (if available)
- TreeFam:
- Gene Tree for ADD2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ADD2: view image
- Alliance of Genome Resources:
- Additional Orthologs for ADD2
Paralogs for ADD2 Gene
Variants for ADD2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADD2 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs34241538 | Benign: not provided | 70,706,359(-) |
C/T NM_001617.4(ADD2):c.50G>A (p.Gly17Glu) |
MISSENSE | |
| rs4982 | Benign: not provided | 70,683,711(-) |
C/Ap.Glu335Asp NM_001617.4(ADD2):c.1005G>T (p.Glu335Asp) |
MISSENSE | |
| rs4986 | Benign: not provided | 70,706,327(-) |
C/Tp.Asp28Asn NM_001617.4(ADD2):c.82G>A (p.Asp28Asn) |
MISSENSE | |
| rs17855969 | -- |
p.Thr439Ala |
|||
| rs4985 | -- |
p.Ser663Arg |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2659183 | CNV | deletion | 23128226 |
| esv2762674 | CNV | gain | 21179565 |
| esv3429524 | CNV | insertion | 20981092 |
| esv3583858 | CNV | loss | 25503493 |
| esv3591211 | CNV | loss | 21293372 |
| esv3892614 | CNV | gain | 25118596 |
| nsv1146915 | OTHER | inversion | 26484159 |
| nsv2770 | CNV | insertion | 18451855 |
| nsv582192 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.42;
63.83% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ADD2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADD2 Gene
Disorders for ADD2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hereditary elliptocytosis |
|
|
| hereditary spherocytosis |
|
|
| choreoacanthocytosis |
|
|
| exhibitionism |
|
|
| hypertension, essential |
|
|
Search ADD2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ADD2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ADD2 Gene
Publications for ADD2 Gene
- Primary structure and domain organization of human alpha and beta adducin. (PMID: 1840603) Joshi R … Bennett V (The Journal of cell biology 1991) 2 3 4 22
- alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy. (PMID: 19838659) Ferrandi M … Bianchi G (Journal of molecular medicine (Berlin, Germany) 2010) 3 22 40
- Arterial properties in relation to genetic variations in the adducin subunits in a white population. (PMID: 18787518) Seidlerová J … Bianchi G (American journal of hypertension 2009) 3 22 40
- Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphatic hydrops in Ménière's syndrome. (PMID: 18667944) Teggi R … Bussi M (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2008) 3 22 40
- Investigation of Adducin 2 (beta) DNA polymorphisms in genetic predisposition to diabetic nephropathy in Type 1 diabetes. (PMID: 18959617) Currie D … Warren 3/UK GoKinD Study Group (Diabetic medicine : a journal of the British Diabetic Association 2008) 3 22 40
ExternalLinks
Products for ADD2 Gene
- Custom Antibody ServicesOriGene Antibodies for ADD2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for ADD2
- Origene Custom Protein Services for ADD2
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- Browse OriGene Inhibitory RNA Products For ADD2
- OriGene qPCR primer pairs for ADD2
- OriGene qPCR primer pairs and template standards for ADD2
- OriGene CRISPR knockouts for ADD2
- MG208912
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- RC207895
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- RC230299
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- RC230458
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- RG207895
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- RR200528
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- RR200529
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- MR208912L3V
- MR208912L4V
- MR223395L3V
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- RC207895L3V
- RC207895L4V
- RC209517L3V
- RC209517L4V
- RC212102L3V
- RC212102L4V
- RC230299L3V
- RC230299L4V
- RC230458L3V
- RC230458L4V
- RR200528L3V
- RR200528L4V
- RR200529L3V
- RR200529L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ADD2
- Sino Biological Human cDNA Clone for ADD2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for ADD2
- Novus Biologicals proteins and lysates for ADD2
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam proteins for ADD2
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- Invitrogen Antibodies for ADD2 (AFLGC-Add2)
- VectorBuilder Custom and pre-made DNA vectors for ADD2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ADD2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ADD2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ADD2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ADD2
- antibodies-online: Show 63 available ADD2 Antibodies ranked by validation data
- Compare Top ADD2 Antibodies
- antibodies-online: Show 3 available ADD2 Elisa Kits ranked by validation data
- Compare Top ADD2 Elisa Kits
- Quality Products:
- antibodies-online: Show 7 available ADD2 Proteins ranked by validation data
- Compare Top ADD2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ADD2
- Search Santa Cruz Biotechnology (SCBT) for ADD2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ADD2
- Custom Antibody ServicesProSci Antibodies for ADD2
- Search for ADD2 Proteins at ProSci
- Horizon Cell Lines for ADD2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADD2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ADD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADD2
- Biorbyt antibodies for ADD2
Sources for ADD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources