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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 ADD3 Gene
Aliases for ADD3 Gene
External Ids for ADD3 Gene
- HGNC: 245
- Entrez Gene: 120
- Ensembl: ENSG00000148700
- OMIM: 601568
- UniProtKB: Q9UEY8
Previous HGNC Symbols for ADD3 Gene
- ADDL
Previous GeneCards Identifiers for ADD3 Gene
- GC10P110658
- GC10P111094
- GC10P111897
- GC10P111430
- GC10P111432
- GC10P111755
- GC10P105396
Summaries for ADD3 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 adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
GeneCards Summary for ADD3 Gene
ADD3 (Adducin 3) is a Protein Coding gene. Diseases associated with ADD3 include Cerebral Palsy, Spastic Quadriplegic, 3 and Cerebral Palsy. Among its related pathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is ADD2.
UniProtKB/Swiss-Prot Summary for ADD3 Gene
-
Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin.
Additional gene information for ADD3 Gene
- HGNC(245)
- Entrez Gene(120)
- Ensembl(ENSG00000148700)
- OMIM(601568)
- UniProtKB(Q9UEY8)
- Open Targets Platform(ENSG00000148700)
- Monarch Initiative
- Search for ADD3 at DataMed
- Search for ADD3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADD3 Gene
Genomics for ADD3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ADD3 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 ADD3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADD3
- Top Transcription factor binding sites by QIAGEN in the ADD3 gene promoter:
-
- Arnt
- Oct-B1
- oct-B2
- oct-B3
- POU2F1
- POU2F1a
Genomic Locations for ADD3 Gene
Genomic Locations for ADD3 Gene
- chr10:109,996,365-110,135,565
- (GRCh38/hg38)
- Size:
- 139,201 bases
- Orientation:
- Plus strand
- chr10:111,756,126-111,895,323
- (GRCh37/hg19)
- Size:
- 139,198 bases
- Orientation:
- Plus strand
Genomic View for ADD3 Gene
Genes around ADD3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q25.1-q25.2 by HGNC
- 10q25.1-q25.2 by Entrez Gene
- 10q25.1 by Ensembl
ADD3 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 ADD3 Gene
Proteins for ADD3 Gene
-
Protein details for ADD3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UEY8-ADDG_HUMAN
- Recommended name:
- Gamma-adducin
- Protein Accession:
- Q9UEY8
- D3DRA8
- O43243
- Q5VU09
- Q92773
- Q9UEY7
Protein attributes for ADD3 Gene
- Size:
- 706 amino acids
- Molecular mass:
- 79155 Da
- Quaternary structure:
-
- Heterodimer of an alpha and a gamma subunit.
Protein Expression for ADD3 Gene
Post-translational modifications for ADD3 Gene
- Sumoylated.
-
Ubiquitination at Lys21, Lys401, and Lys448
- NX_Q9UEY8 (NX_Q9UEY8-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ADD3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_024303562.1
- XP_024303563.1
- XP_024303564.1
- XP_024303565.1
- XP_024303566.1
- XP_024303567.1
- XP_024303568.1
- XP_024303569.1
- XP_024303570.1
- XP_024303571.1
- XP_024303572.1
- XP_024303573.1
- XP_024303574.1
- XP_024303575.1
- XP_024303576.1
- XP_024303577.1
- XP_024303578.1
- XP_024303579.1
- XP_024303580.1
- XP_024303581.1
- XP_024303582.1
- NP_001112.2
- NP_001307520.1
- NP_001307521.1
- NP_001307522.1
- NP_001307523.1
- NP_058432.1
- NP_063968.1
Antibody Products
- LifeSpan BioSciences ADD3 Antibody (LS-B10008) and ADD3 Antibody (LS-B12015)
- G Biosciences Immunotag™ ADD3 Antibody
- Creative Diagnostics Anti-ADD3 (aa 462-560) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for ADD3
- Novus Biologicals Antibodies for ADD3
-
Abcam antibodies for ADD3
- Invitrogen Antibodies for ADD3 (AFLGC-ADD3)
-
Biorbyt antibodies for ADD3
-
Santa Cruz Biotechnology (SCBT) Antibodies for ADD3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ADD3
- Origene Custom Protein Services for ADD3
- antibodies-online: Show 6 available ADD3 Proteins ranked by validation data
- Compare Top ADD3 Proteins
-
Quality Products:
-
Abcam proteins for ADD3
No data available for DME Specific Peptides for ADD3 Gene
Domains & Families for ADD3 Gene
Gene Families for ADD3 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ADD3 Gene
- InterPro:
- Blocks:
-
- Class II aldolase/adducin, N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for ADD3 Gene
- GenScript: Design optimal peptide antigens:
-
- Adducin-like protein 70 (ADDG_HUMAN)
- cDNA FLJ77558, highly similar to Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA (Q5VU08_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UEY8UniProtKB/Swiss-Prot:
ADDG_HUMAN :- Comprised of three regions: a N-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:
-
- Comprised of three regions: a N-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 ADD3 Gene
Molecular function for ADD3 Gene
- UniProtKB/Swiss-Prot Function:
- Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin.
- GENATLAS Biochemistry:
- adducin 3,actin accessory protein,calmodulin binding,ubiquitously expressed
Phenotypes From GWAS Catalog for ADD3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
| GO:0005198 | structural molecule activity | IBA | 21873635 |
| GO:0005200 | structural constituent of cytoskeleton | TAS,IEA | -- |
| GO:0005516 | calmodulin binding | IEA | -- |
| GO:0030507 | spectrin binding | IBA | 21873635 |
Phenotypes for ADD3 Gene
- MGI mutant phenotypes for ADD3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ADD3:
Animal Models for ADD3 Gene
- MGI Knock Outs for ADD3:
-
- Add3 Add3<tm1.2Llp>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ADD3 - Select products 50% OFF >
- * ADD3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ADD3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADD3
miRNA for ADD3 Gene
- miRTarBase miRNAs that target ADD3
-
- mmu-miR-19b-3p (MIRT012388)
- mmu-miR-24-3p (MIRT013792)
- mmu-miR-149-5p (MIRT014490)
- hsa-miR-374b-5p (MIRT016076)
- hsa-miR-124-3p (MIRT022859)
- hsa-miR-24-3p (MIRT030536)
- hsa-miR-23a-3p (MIRT110336)
- hsa-miR-23b-3p (MIRT110338)
- hsa-miR-130a-5p (MIRT110339)
- hsa-miR-374a-5p (MIRT110340)
- hsa-miR-23c (MIRT110344)
- hsa-miR-155-5p (MIRT125863)
- hsa-miR-1202 (MIRT125869)
- hsa-miR-3972 (MIRT125875)
- hsa-miR-5006-5p (MIRT125880)
- hsa-miR-145-5p (MIRT437436)
- hsa-miR-5692c (MIRT561030)
- hsa-miR-5692b (MIRT561031)
- hsa-miR-369-3p (MIRT561032)
- hsa-miR-129-5p (MIRT636737)
- hsa-miR-4776-3p (MIRT636738)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADD3
- Browse OriGene Inhibitory RNA Products For ADD3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADD3
Clone Products
- Applied Biological Materials (abm): Clones for ADD3 - Select products 50% OFF >
- * ADD3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210161
- MG223289
- MG223887
- MG224700
- MR210161
- MR210161L3
- MR210161L4
- MR223289
- MR223289L3
- MR223289L4
- MR223887
- MR223887L3
- MR223887L4
- MR224700
- MR224700L3
- MR224700L4
- MR230943
- RC209129
- RC209129L1
- RC209129L2
- RC209129L3
- RC209129L4
- RC211957
- RC211957L3
- RC211957L4
- RC214407
- RC214407L3
- RC214407L4
- RG209129
- RG211957
- RG214407
- RR207822
- RR207822L3
- RR207822L4
- RR217127
- MR210161L3V
- MR210161L4V
- MR223289L3V
- MR223289L4V
- MR223887L3V
- MR223887L4V
- MR224700L3V
- MR224700L4V
- RC209129L1V
- RC209129L2V
- RC209129L3V
- RC209129L4V
- RC211957L3V
- RC211957L4V
- RC214407L3V
- RC214407L4V
- RR207822L3V
- RR207822L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ADD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADD3
Cell Line Products
-
Horizon Cell Lines for ADD3
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ADD3 Gene
Localization for ADD3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ADD3 Gene
- Cytoplasm, cytoskeleton. Cell membrane. Peripheral membrane protein. Cytoplasmic side.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 4 |
| extracellular | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000794 | condensed nuclear chromosome | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IBA | 21873635 |
| GO:0005886 | plasma membrane | IEA,IDA | -- |
Pathways & Interactions for ADD3 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 | ||
Pathways by source for ADD3 Gene
2 Reactome pathways for ADD3 Gene
4 Qiagen pathways for ADD3 Gene
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- cAMP Pathway
- PKA Signaling
Interacting Proteins for ADD3 Gene
GPS-Prot Interaction Network for ADD3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007010 | cytoskeleton organization | IEA | -- |
| GO:0051016 | barbed-end actin filament capping | IBA | 21873635 |
| GO:0051017 | actin filament bundle assembly | IBA | 21873635 |
| GO:0055085 | transmembrane transport | TAS | -- |
Transcripts for ADD3 Gene
mRNA/cDNA for ADD3 Gene
- 7 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000277900 4337 nts (view in UCSC)
- ENST00000356080 4413 nts (view in UCSC)
- ENST00000360162 3114 nts (view in UCSC)
- ENST00000459738 229 nts (view in UCSC)
- ENST00000468251 697 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ADD3 - Select products 50% OFF >
- * ADD3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ADD3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADD3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADD3
- Browse OriGene Inhibitory RNA Products For ADD3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADD3
Clone Products
- Applied Biological Materials (abm): Clones for ADD3 - Select products 50% OFF >
- * ADD3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210161
- MG223289
- MG223887
- MG224700
- MR210161
- MR210161L3
- MR210161L4
- MR223289
- MR223289L3
- MR223289L4
- MR223887
- MR223887L3
- MR223887L4
- MR224700
- MR224700L3
- MR224700L4
- MR230943
- RC209129
- RC209129L1
- RC209129L2
- RC209129L3
- RC209129L4
- RC211957
- RC211957L3
- RC211957L4
- RC214407
- RC214407L3
- RC214407L4
- RG209129
- RG211957
- RG214407
- RR207822
- RR207822L3
- RR207822L4
- RR217127
- MR210161L3V
- MR210161L4V
- MR223289L3V
- MR223289L4V
- MR223887L3V
- MR223887L4V
- MR224700L3V
- MR224700L4V
- RC209129L1V
- RC209129L2V
- RC209129L3V
- RC209129L4V
- RC211957L3V
- RC211957L4V
- RC214407L3V
- RC214407L4V
- RR207822L3V
- RR207822L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ADD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADD3
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14a | · | 14b | · | 14c | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP20: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP21: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP22: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP23: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP24: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP25: | - |
| ExUns: | 14d | · | 14e | · | 14f | ^ | 15a | · | 15b | · | 15c | · | 15d | ^ | 16a | · | 16b | · | 16c | · | 16d | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25a | · | 25b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP20: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP22: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP23: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP24: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP25: |
Relevant External Links for ADD3 Gene
- GeneLoc Exon Structure for
- ADD3
Expression for ADD3 Gene
This gene is overexpressed in Spinal cord (8.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADD3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADD3
SOURCE GeneReport for Unigene cluster for ADD3 Gene:
Hs.501012mRNA Expression by UniProt/SwissProt for ADD3 Gene:
Q9UEY8-ADDG_HUMAN
Tissue specificity:
Isoform 1 is ubiquitously expressed.
Evidence on tissue expression from TISSUES for ADD3 Gene
- Nervous system(4.9)
- Blood(4.6)
- Liver(4.5)
- Lung(3.9)
- Kidney(3.9)
- Intestine(3.4)
- Eye(3.4)
- Skin(3)
- Heart(2.9)
- Muscle(2.8)
- Pancreas(2.7)
- Lymph node(2.5)
- Thyroid gland(2.5)
- Bone marrow(2.4)
- Gall bladder(2.4)
- Spleen(2.4)
- Stomach(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ADD3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- face
- head
- skull
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ADD3
-
OriGene qPCR primer pairs and template standards for ADD3
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ADD3 Gene
Orthologs for ADD3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ADD3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ADD3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ADD3 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ADD3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ADD3 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Add3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Add3 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ADD3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ADD3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | add3 30 |
|
||
| Str.5919 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | add3a 30 31 |
|
OneToMany | |
| add3b 31 |
|
OneToMany | |||
| wufc16e06 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | hts 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | add-1 31 |
|
ManyToMany | |
| add-2 31 32 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8742 31 |
|
ManyToMany |
- Species where no ortholog for ADD3 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 ADD3 Gene
- ENSEMBL:
- Gene Tree for ADD3 (if available)
- TreeFam:
- Gene Tree for ADD3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ADD3: view image
Paralogs for ADD3 Gene
Variants for ADD3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADD3 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 708943 | Likely Benign: not provided | 110,130,393(+) | C/T | MISSENSE_VARIANT | |
| 717243 | Benign: not provided | 110,117,344(+) | A/G | SYNONYMOUS_VARIANT | |
| 726537 | Likely Benign: not provided | 110,133,375(+) | C/T | SYNONYMOUS_VARIANT | |
| 735729 | Likely Benign: not provided | 110,133,615(+) | C/A | SYNONYMOUS_VARIANT | |
| 736400 | Likely Benign: not provided | 110,132,406(+) | C/T | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2501162 | CNV | deletion | 19546169 |
| esv2676886 | CNV | deletion | 23128226 |
| esv3546845 | CNV | deletion | 23714750 |
| esv3624531 | CNV | loss | 21293372 |
| esv3624532 | CNV | loss | 21293372 |
| nsv1052255 | CNV | gain | 25217958 |
| nsv7211 | OTHER | inversion | 18451855 |
| nsv7547 | CNV | deletion | 18451855 |
| nsv951845 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.11;
61.15% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ADD3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADD3 Gene
Disorders for ADD3 Gene
(8) MalaCards diseases for ADD3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cerebral palsy, spastic quadriplegic, 3 |
|
|
| cerebral palsy |
|
|
| inherited congenital spastic tetraplegia |
|
|
| biliary atresia |
|
|
| actinomycosis |
|
|
Search ADD3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ADDG_HUMAN- Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008]: A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment. {ECO:0000269 PubMed:23836506}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ADD3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ADD3 Gene
Publications for ADD3 Gene
- Cloning, expression and chromosome mapping of adducin-like 70 (ADDL), a human cDNA highly homologous to human erythrocyte adducin. (PMID: 8893809) Katagiri T … Hirai Y (Cytogenetics and cell genetics 1996) 2 3 4 23
- 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 23 41
- Effects of genetic variation in adducin on left ventricular diastolic function as assessed by tissue Doppler imaging in a Flemish population. (PMID: 18475162) Kuznetsova T … Staessen JA (Journal of hypertension 2008) 3 23 41
- 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 23 41
- Role of the adducin family genes in human essential hypertension. (PMID: 15716695) Lanzani C … Manunta P (Journal of hypertension 2005) 3 23 41
ExternalLinks
Products for ADD3 Gene
- Custom Antibody ServicesOriGene Antibodies for ADD3
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- Browse OriGene Inhibitory RNA Products For ADD3
- OriGene qPCR primer pairs for ADD3
- OriGene qPCR primer pairs and template standards for ADD3
- OriGene CRISPR knockouts for ADD3
- MG210161
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- RC209129L1V
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- RC211957L3V
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- RC214407L3V
- RC214407L4V
- RR207822L3V
- RR207822L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ADD3
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- Novus Biologicals proteins and lysates for ADD3
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- VectorBuilder Viral vectors for ADD3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ADD3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ADD3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ADD3
- antibodies-online: Show 24 available ADD3 Antibodies ranked by validation data
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- antibodies-online: Search results for available ADD3 related products ranked by validation data
- antibodies-online: Show 6 available ADD3 Proteins ranked by validation data
- Compare Top ADD3 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for ADD3
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- Santa Cruz Biotechnology (SCBT) CRISPR for ADD3
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADD3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ADD3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADD3
- Biorbyt antibodies for ADD3
Sources for ADD3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (18) IUBMB
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
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- (48) IMGT
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- (50) miRBase
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- (53) PubMed
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (84) COMPARTMENTS
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- (159) GeneImprint
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