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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 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 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ADD3 Gene

Promoters and enhancers for ADD3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I110005 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.9 +12.3 12344 6.9 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF213 ZNF143 SP3 ADD3 ADD3-AS1 PIR36361 GC10M110016 GC10M110015
GH10I109992 Enhancer 1.3 Ensembl ENCODE dbSUPER 564.6 -0.6 -583 7.4 HDGF PKNOX1 FEZF1 BATF TCF12 ZNF121 ZSCAN5C SCRT2 ATF7 KLF7 ADD3 SMC3 XPNPEP1 BBIP1 ADD3-AS1
GH10I109965 Enhancer 1.4 Ensembl ENCODE dbSUPER 27.2 -28.4 -28440 5.6 FOXA2 ARID4B FEZF1 YY1 KLF7 FOS RXRA SP5 TSHZ1 REST ADD3 XPNPEP1 ADD3-AS1
GH10I109961 Enhancer 1.3 Ensembl ENCODE dbSUPER 26.4 -34.6 -34567 1.6 PKNOX1 ZSCAN4 INSM2 KLF17 MZF1 FEZF1 ZNF2 GLIS2 ZNF213 ZNF366 ADD3 XPNPEP1 ADD3-AS1
GH10I109921 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.8 -73.7 -73657 3.1 ATF1 ARID4B SIN3A BRCA1 YY1 POLR2B ZNF207 ZNF143 ATF7 RUNX3 XPNPEP1 ADD3-AS1 ADD3 RNU4-5P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADD3 on UCSC Golden Path with GeneCards custom track

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

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)

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 StructureGene 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
    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

Post-translational modifications for ADD3 Gene

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

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

Function for ADD3 Gene

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.

Phenotypes From GWAS Catalog for ADD3 Gene

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

Human Phenotype Ontology for ADD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADD3 Gene

MGI Knock Outs for ADD3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

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

No Compound Related Data Available

Transcripts for ADD3 Gene

Unigene Clusters for ADD3 Gene

Adducin 3 (gamma):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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(4.4)
  • 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
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
genes like me logo Genes that share expression patterns with ADD3: view

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 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia ADD3 33 34
  • 93.01 (n)
cow
(Bos Taurus)
Mammalia ADD3 33 34
  • 92.43 (n)
oppossum
(Monodelphis domestica)
Mammalia ADD3 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADD3 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Add3 33
  • 87.14 (n)
mouse
(Mus musculus)
Mammalia Add3 33 16 34
  • 86.92 (n)
chicken
(Gallus gallus)
Aves ADD3 33 34
  • 79.31 (n)
lizard
(Anolis carolinensis)
Reptilia ADD3 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia add3 33
  • 67.4 (n)
Str.5919 33
zebrafish
(Danio rerio)
Actinopterygii add3a 33 34
  • 67.16 (n)
add3b 34
  • 51 (a)
OneToMany
wufc16e06 33
fruit fly
(Drosophila melanogaster)
Insecta hts 35 34
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea add-2 35 34
  • 45 (a)
add-1 34
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8742 34
  • 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 Variation AA Info Type
rs564185858 pathogenic, Cerebral palsy, spastic quadriplegic, 3, Cerebral palsy, Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008] 110,122,249(+) G/A coding_sequence_variant, missense_variant
rs41291886 likely-benign, not provided 110,112,885(+) T/C coding_sequence_variant, missense_variant
rs753541585 uncertain-significance, not provided 110,133,616(+) TAAATAAA/TAAA 3_prime_UTR_variant, terminator_codon_variant
rs765847432 uncertain-significance, not provided 110,133,598(+) AAG/ coding_sequence_variant, inframe_deletion
rs1000004262 -- 110,041,785(+) C/A 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)

Additional Variant Information for ADD3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADD3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cerebral palsy, spastic quadriplegic, 3
  • cpsq3
cerebral palsy
  • mixed cerebral palsy
spastic diplegia
  • cerebral spastic infantile paralysis
spastic paraplegia 50, autosomal recessive
  • spg50
inherited congenital spastic tetraplegia
  • spastic quadriplegic cerebral palsy
- 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.

Additional Disease Information for ADD3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Cytogenetics and cell genetics 1996) 2 3 4 22 58
  2. 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 44 58
  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 JA (Journal of hypertension 2008) 3 22 44 58
  4. 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 44 58
  5. Role of the adducin family genes in human essential hypertension. (PMID: 15716695) Lanzani C … Manunta P (Journal of hypertension 2005) 3 22 44 58

Products for ADD3 Gene

Sources for ADD3 Gene

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