Add2 adducin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Add2provided by MGI
Official Full Name: adducin 2provided by MGI
Primary source: MGI:MGI:87919
See related: Ensembl:ENSMUSG00000030000 AllianceGenome:MGI:87919
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: add97; 2900072M03Rik
Summary: This gene encodes the beta subunit of the adducin family. Adducins, encoded by alpha, beta and gamma genes, are heteromeric proteins that crosslink actin filaments with spectrin at the cytoskeletal membrane. This protein, primarily found in the brain and hematopoietic cells, is regulated by phosphorylation and calmodulin interactions as it promotes spectrin assembly onto actin filaments, bundles actin and caps barbed ends of actin filaments. In mouse, deficiency of this gene can lead to mild hemolytic anemia and impaired synaptic plasticity. Mutations of this gene in mouse serve as a pathophysiological model for hereditary spherocytosis and hereditary elliptocytosis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Dec 2012]
Expression: Biased expression in CNS E18 (RPKM 33.1), whole brain E14.5 (RPKM 28.0) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C3- D1; 6 37.55 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (86005663..86101391)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (86028681..86124409)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study shows that a single injection of 3 pharmacologically distinct psychoactive drugs can modify spines in the nucleus accumbens within a day. beta-adducin is necessary for these effects. Study suggests that fine regulation of DARPP-32 phosphorylation is a major factor in mediating common effects on beta-adducin of various drugs with distinct or even opposite modes of action.
Title: Acute drug-induced spine changes in the nucleus accumbens are dependent on β-adducin.
Sez6l2 is one of the auxiliary subunits of the AMPA receptor and acts as a scaffolding protein to link GluR1 to ADD. Furthermore, Sez6l2 overexpression upregulates ADD phosphorylation, whereas siRNA-mediated downregulation of Sez612 prevents ADD phosphorylation, suggesting that Sez6l2 modulates AMPA-ADD signal transduction.
Title: Sez6l2 regulates phosphorylation of ADD and neuritogenesis.
Darpp32 interaction with beta-adducin may be the molecular pathway by which environmental changes may rapidly alter responsiveness of striatal neurons involved in the reward system.
Title: DARPP-32 interaction with adducin may mediate rapid environmental effects on striatal neurons.
Calcium plays a role in regulating the expression and function of beta-adducin to sustain normal organization of the spectrin-based cytoskeleton and the differentiation properties in keratinocytes through the calmodulin/EGFR/cadherin signaling pathway.
Title: β-Adducin siRNA disruption of the spectrin-based cytoskeleton in differentiating keratinocytes prevented by calcium acting through calmodulin/epidermal growth factor receptor/cadherin pathway.
study identified novel long-distance upstream non-canonical polyadenylation-regulatory elements that enhance or silence 3'end processing of the Add2 PAS4
Title: Long-distance regulation of Add2 pre-mRNA3'end processing.
chorein interacts with beta-adducin and beta-actin.
Title: Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.
betaAdd-knockout mice show increased dendritic spine density in nucleus accumbens and elevated locomotor activity in response to cocaine.
Title: Constitutive knockout of the membrane cytoskeleton protein beta adducin decreases mushroom spine density in the nucleus accumbens but does not prevent spine remodeling in response to cocaine.
mice lacking beta-Adducin fail to assemble new synapses upon enhanced plasticity and exhibit diminished long-term hippocampal memory upon environmental enrichment.
Title: β-Adducin is required for stable assembly of new synapses and improved memory upon environmental enrichment.
These results strongly suggest coordinated expression and phosphorylation of alpha-, beta-, and gamma-adducins as key mechanism underlying synaptic plasticity, motor coordination performance and learning behaviors.
Title: beta-adducin (Add2) KO mice show synaptic plasticity, motor coordination and behavioral deficits accompanied by changes in the expression and phosphorylation levels of the alpha- and gamma-adducin subunits.
Analysis of 3 new alleles reveals previously unknown consequences of red blood cell (RBC) spectrin deficiency, resulting in markedly reduced RBC membrane spectrin content, decreased band 3, and absent beta-adducin.
Title: Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Transposon induced (1) 1 citation
Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables spectrin binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of cytoskeleton	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament bundle assembly	ISO Inferred from Sequence Orthology more info
involved_in barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in barbed-end actin filament capping	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leukocyte migration	ISO Inferred from Sequence Orthology more info
involved_in leukocyte tethering or rolling	ISO Inferred from Sequence Orthology more info
involved_in monoatomic ion transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein binding	ISO Inferred from Sequence Orthology more info
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in synapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in synapse assembly	IEP Inferred from Expression Pattern more info	PubMed
involved_in synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of F-actin capping protein complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane raft	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: beta-adducin

Names: adducin 2 (beta); erythrocyte adducin subunit beta; snoRNA MBII-396

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001271857.1 → NP_001258786.1 beta-adducin isoform 1

See identical proteins and their annotated locations for NP_001258786.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3 and 4 encode the same isoform (1, also known as beta-1).

Source sequence(s)

AI835294, AK014496, AK147544, BE951615, BU058008, BU708888, BY146240, BY712734, CB519116, CB524359, CB722600

Consensus CDS

CCDS20308.1

UniProtKB/Swiss-Prot

Q3U0E1, Q80VH9, Q8C1C4, Q9CXE3, Q9JLE4, Q9JLE5, Q9QYB7, Q9QYB8

UniProtKB/TrEMBL

Q8C0Y2

Conserved Domains (3) summary

PRK08724
Location:410 → 598

fliD; flagellar filament capping protein FliD

TIGR00601
Location:562 → 664

rad23; UV excision repair protein Rad23

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_001271858.1 → NP_001258787.1 beta-adducin isoform 1

See identical proteins and their annotated locations for NP_001258787.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (1, also known as beta-1).

Source sequence(s)

AI835294, AK014496, AK029488, AK147544, BE951615, BU058008, BU708888, BY146240, BY712734, CB519116, CB524359, CB722600

Consensus CDS

CCDS20308.1

UniProtKB/Swiss-Prot

Q3U0E1, Q80VH9, Q8C1C4, Q9CXE3, Q9JLE4, Q9JLE5, Q9QYB7, Q9QYB8

UniProtKB/TrEMBL

Q8C0Y2

Related

ENSMUSP00000145160.2, ENSMUST00000204059.3

Conserved Domains (3) summary

PRK08724
Location:410 → 598

fliD; flagellar filament capping protein FliD

TIGR00601
Location:562 → 664

rad23; UV excision repair protein Rad23

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_001271859.1 → NP_001258788.1 beta-adducin isoform 1

See identical proteins and their annotated locations for NP_001258788.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (1, also known as beta-1).

Source sequence(s)

AC158645

Consensus CDS

CCDS20308.1

UniProtKB/Swiss-Prot

Q3U0E1, Q80VH9, Q8C1C4, Q9CXE3, Q9JLE4, Q9JLE5, Q9QYB7, Q9QYB8

UniProtKB/TrEMBL

Q8C0Y2

Related

ENSMUSP00000145296.2, ENSMUST00000203724.3

Conserved Domains (3) summary

PRK08724
Location:410 → 598

fliD; flagellar filament capping protein FliD

TIGR00601
Location:562 → 664

rad23; UV excision repair protein Rad23

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_001271860.1 → NP_001258789.1 beta-adducin isoform 2

See identical proteins and their annotated locations for NP_001258789.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks several 3' exons and contains an alternate 3' exon, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1. Both variants 5 and 6 encode the same isoform (2, also known as beta-2).

Source sequence(s)

BC053032, BY146240

Consensus CDS

CCDS85085.1

UniProtKB/Swiss-Prot

Q9QYB8

Related

ENSMUSP00000144849.2, ENSMUST00000203366.3

Conserved Domains (1) summary

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_001271861.1 → NP_001258790.1 beta-adducin isoform 2

See identical proteins and their annotated locations for NP_001258790.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, lacks several 3' exons and contains an alternate 3' exon, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1. Both variants 5 and 6 encode the same isoform (2, also known as beta-2).

Source sequence(s)

AC158645, AK028425, BC053032

Consensus CDS

CCDS85085.1

UniProtKB/Swiss-Prot

Q9QYB8

Related

ENSMUSP00000145034.2, ENSMUST00000205034.3

Conserved Domains (1) summary

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_013458.5 → NP_038486.2 beta-adducin isoform 1

See identical proteins and their annotated locations for NP_038486.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (1, also known as beta-1).

Source sequence(s)

AC158645, AI835294, AK014496, AK147544, BE951615, BU058008, BU708888, BY712734, CB519116, CB524359, CB722600

Consensus CDS

CCDS20308.1

UniProtKB/Swiss-Prot

Q3U0E1, Q80VH9, Q8C1C4, Q9CXE3, Q9JLE4, Q9JLE5, Q9QYB7, Q9QYB8

UniProtKB/TrEMBL

Q8C0Y2

Related

ENSMUSP00000032069.6, ENSMUST00000032069.8

Conserved Domains (3) summary

PRK08724
Location:410 → 598

fliD; flagellar filament capping protein FliD

TIGR00601
Location:562 → 664

rad23; UV excision repair protein Rad23

cl00214
Location:130 → 379

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...