Free for academic non-profit institutions. Other users need a Commercial license

ADD3 Gene(Protein Coding)

Adducin 3

GCID:
GC10P109996
GIFtS:
56
Genes Participants
UDN Logo

Aliases for ADD3 Gene

Aliases for ADD3 Gene

  • Adducin 3 2 3 5
  • Adducin-Like Protein 70 3 4
  • Adducin 3 (Gamma) 2 3
  • Gamma-Adducin 2 3
  • ADDL 3 4
  • CPSQ3 3

External Ids for ADD3 Gene

Previous HGNC Symbols for ADD3 Gene

  • ADDL

Previous GeneCards Identifiers for ADD3 Gene

  • GC10P110658
  • GC10P111094
  • GC10P111897
  • GC10P111430
  • GC10P111432
  • GC10P111755
  • GC10P105396

Summaries for ADD3 Gene

Entrez Gene Summary 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 Spastic Paraplegia 50, Autosomal Recessive and Inherited Congenital Spastic Tetraplegia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Activation of cAMP-Dependent PKA. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is ADD2.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for ADD3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADD3 Gene

Genomics for ADD3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ADD3 Gene

Enhancers for ADD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G109965 1.5 Ensembl ENCODE dbSUPER 27.2 -28.4 -28440 5.6 FOXA2 ARID4B SIN3A FEZF1 YY1 GATA2 KLF7 FOS SP5 TSHZ1 ADD3 XPNPEP1
GH10G109961 1.4 Ensembl ENCODE dbSUPER 26.4 -34.6 -34568 1.6 PKNOX1 ZSCAN4 INSM2 KLF17 FEZF1 ZNF2 GLIS2 ZNF366 ZNF263 SP3 ADD3 XPNPEP1
GH10G110005 1.6 FANTOM5 ENCODE dbSUPER 15.9 +12.3 12345 6.9 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF263 SP3 SP5 ADD3 ADD3-AS1 GC10M110015 GC10M110016
GH10G110079 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +85.9 85911 5.0 ELF3 FOXA2 NFRKB FEZF1 ZEB1 CHAMP1 YY1 GATA2 ZNF366 ZSCAN5C ADD3 MXI1 SMNDC1 SNRPGP12 GC10M110015 GC10M110016
GH10G109980 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.1 -14.4 -14363 2.5 BCOR HDAC1 PKNOX1 TBL1XR1 TAL1 DDX20 ZMYM3 FOSL1 TCF12 ZNF316 ADD3 ADD3-AS1 MXI1 XPNPEP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADD3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ADD3 gene promoter:

Genomic Location for ADD3 Gene

Chromosome:
10
Start:
109,996,365 bp from pter
End:
110,135,565 bp from pter
Size:
139,201 bases
Orientation:
Plus strand

Genomic View for ADD3 Gene

Genes around ADD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADD3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ADD3 Gene

Proteins for ADD3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ADD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UEY8-ADDG_HUMAN
    Recommended name:
    Gamma-adducin
    Protein Accession:
    Q9UEY8
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for ADD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADD3 Gene

Protein Expression for ADD3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ADD3 Gene

Other Protein References for ADD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ADD3 Gene

Domains & Families for ADD3 Gene

Protein Domains for ADD3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ADD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UEY8

UniProtKB/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.
genes like me logo Genes that share domains with ADD3: view

No data available for Gene Families for ADD3 Gene

Function for ADD3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ADD3 Gene

GENATLAS Biochemistry:
adducin 3,actin accessory protein,calmodulin binding,ubiquitously expressed
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.

Gene Ontology (GO) - Molecular Function for ADD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0005200 structural constituent of cytoskeleton TAS 8893809
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with ADD3: view
genes like me logo Genes that share phenotypes with ADD3: view

Animal Models for ADD3 Gene

MGI Knock Outs for ADD3:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADD3 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for ADD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ADD3: view

Pathways & Interactions for ADD3 Gene

genes like me logo Genes that share pathways with ADD3: view

Gene Ontology (GO) - Biological Process for ADD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with ADD3: view

No data available for SIGNOR curated interactions for ADD3 Gene

Drugs & Compounds for ADD3 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ADD3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ADD3 Gene

(7) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(565) Selected AceView cDNA sequences:
(20) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADD3 Gene

Adducin 3 (gamma):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADD3 Gene

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
ECgene alternative splicing isoforms for
ADD3

Expression for ADD3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADD3 Gene

mRNA expression in normal human tissues for ADD3 Gene
mRNA expression by BioGPS for ADD3 GenemRNA expression by GTEx for ADD3 Gene

Protein differential expression in normal tissues from HIPED for ADD3 Gene

This gene is overexpressed in Spinal cord (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADD3 Gene



Protein tissue co-expression partners for ADD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADD3 Gene:

ADD3

SOURCE GeneReport for Unigene cluster for ADD3 Gene:

Hs.501012

mRNA 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(4.4)
  • Liver(4.3)
  • Lung(3.6)
  • Kidney(3.5)
  • Eye(2.9)
  • Intestine(2.8)
  • Pancreas(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADD3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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
genes like me logo Genes that share expression patterns with ADD3: view

Primer 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.

Orthologs for ADD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ADD3 34 35
  • 99.76 (n)
dog
(Canis familiaris)
 Mammalia ADD3 34 35
  • 93.01 (n)
cow
(Bos Taurus)
 Mammalia ADD3 34 35
  • 92.43 (n)
oppossum
(Monodelphis domestica)
 Mammalia ADD3 35
  • 91 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ADD3 35
  • 90 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Add3 34
  • 87.14 (n)
mouse
(Mus musculus)
 Mammalia Add3 34 16 35
  • 86.92 (n)
chicken
(Gallus gallus)
 Aves ADD3 34 35
  • 79.31 (n)
lizard
(Anolis carolinensis)
 Reptilia ADD3 35
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia add3 34
  • 67.4 (n)
Str.5919 34
zebrafish
(Danio rerio)
 Actinopterygii add3a 34 35
  • 67.16 (n)
add3b 35
  • 51 (a)
 OneToMany
wufc16e06 34
fruit fly
(Drosophila melanogaster)
 Insecta hts 36 35
  • 36 (a)
worm
(Caenorhabditis elegans)
 Secernentea add-2 36 35
  • 45 (a)
add-1 35
  • 29 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8742 35
  • 36 (a)
 ManyToMany
Species where no ortholog for ADD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ADD3 Gene

Paralogs for ADD3 Gene

(2) SIMAP similar genes for ADD3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ADD3: view

Variants for ADD3 Gene

Sequence variations from dbSNP and Humsavar for ADD3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs564185858 Pathogenic, Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008] 110,122,249(+) GGTTG(A/G)CGAAA reference, missense
rs1000004262 -- 110,041,785(+) ACTTG(A/C)AATAG intron-variant
rs1000009251 -- 110,081,464(+) AAATT(C/T)GAATC intron-variant
rs1000029788 -- 110,041,185(+) TGAAC(A/T)TAGAG intron-variant
rs1000072898 -- 110,035,069(+) GGCTT(A/G)CCATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADD3 Gene

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

Variation tolerance for ADD3 Gene

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)

Relevant External Links for ADD3 Gene

Human Gene Mutation Database (HGMD)
ADD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADD3 Gene

Disorders for ADD3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ADD3 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 50, autosomal recessive
  • hereditary spastic paraplegia 50
inherited congenital spastic tetraplegia
  • spastic quadriplegic cerebral palsy
cerebral palsy
  • infantile cerebral palsy
dyscalculia
  • disorder of arithmetical skills
hereditary elliptocytosis
  • congenital elliptocytosis
- elite association - COSMIC cancer census association via MalaCards
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.

Relevant External Links for ADD3

Genetic Association Database (GAD)
ADD3
Human Genome Epidemiology (HuGE) Navigator
ADD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADD3
genes like me logo Genes that share disorders with ADD3: view

No data available for Genatlas for ADD3 Gene

Publications for ADD3 Gene

  1. 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. (Cytogenet. Cell Genet. 1996) 2 3 4 22 64
  2. Arterial properties in relation to genetic variations in the adducin subunits in a white population. (PMID: 18787518) SeidlerovA! J. … Bianchi G. (Am. J. Hypertens. 2009) 3 22 46 64
  3. 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 J.A. (J. Hypertens. 2008) 3 22 46 64
  4. Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphatic hydrops in MAcniA"re's syndrome. (PMID: 18667944) Teggi R. … Bussi M. (Otol. Neurotol. 2008) 3 22 46 64
  5. Role of the adducin family genes in human essential hypertension. (PMID: 15716695) Lanzani C. … Manunta P. (J. Hypertens. 2005) 3 22 46 64

Products for ADD3 Gene

Sources for ADD3 Gene

Content
Loading form....