• Gene id: 119

Gene Summary

• Gene Symbol: ADD2   Gene   UCSC   Ensembl
• Aliases: ADDB
• Gene name: adducin 2
• Alternate names: beta-adducin, adducin 2 (beta), erythrocyte adducin subunit beta,
• Gene location: 2p13.3 (70768199: 70656783)     Exons: 19     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 608129

SNPs

rs6124715

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45548848C>G
NC_000020.11   g.45548848C>T
NC_000020.10   g.44177487C>G
NC_000020.10   g.44177487C>T|SEQ=[C/G/T]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs2227290

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547503G>C
NC_000020.11   g.45547503G>T
NC_000020.10   g.44176142G>C
NC_000020.10   g.44176142G>T|SEQ=[G/C/T]|GENE=EPPIN
EPPIN-WFDC6   100526773

Protein Summary

• Protein general information: P35612  
  • Name: Beta adducin (Erythrocyte adducin subunit beta)
  • Length: 726  
  • Mass: 80854
  • 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. {ECO
• Sequence:

  MSEETVPEAASPPPPQGQPYFDRFSEDDPEYMRLRNRAADLRQDFNLMEQKKRVTMILQSPSFREELEGLIQEQM
  KKGNNSSNIWALRQIADFMASTSHAVFPTSSMNVSMMTPINDLHTADSLNLAKGERLMRCKISSVYRLLDLYGWA
  QLSDTYVTLRVSKEQDHFLISPKGVSCSEVTASSLIKVNILGEVVEKGSSCFPVDTTGFCLHSAIYAARPDVRCI
  IHLHTPATAAVSAMKWGLLPVSHNALLVGDMAYYDFNGEMEQEADRINLQKCLGPTCKILVLRNHGVVALGDTVE
  EAFYKIFHLQAACEIQVSALSSAGGVENLILLEQEKHRPHEVGSVQWAGSTFGPMQKSRLGEHEFEALMRMLDNL
  GYRTGYTYRHPFVQEKTKHKSEVEIPATVTAFVFEEDGAPVPALRQHAQKQQKEKTRWLNTPNTYLRVNVADEVQ
  RSMGSPRPKTTWMKADEVEKSSSGMPIRIENPNQFVPLYTDPQEVLEMRNKIREQNRQDVKSAGPQSQLLASVIA
  EKSRSPSTESQLMSKGDEDTKDDSEETVPNPFSQLTDQELEEYKKEVERKKLELDGEKETAPEEPGSPAKSAPAS
  PVQSPAKEAETKSPLVSPSKSLEEGTKKTETSKAATTEPETTQPEGVVVNGREEEQTAEEILSKGLSQMTTSADT
  DVDTSKDKTESVTSGPMSPEGSPSKSPSKKKKKFRTPSFLKKSKKKEKVES

• Structural information:
  • Interpro: IPR027773  IPR001303  IPR036409  
  • STRING: ENSP00000264436
• Other Databases: GeneCards:  ADD2  Malacards:  ADD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IBA	cellular component
GO:0014069	postsynaptic density	IBA	cellular component
GO:0044853	plasma membrane raft	IBA	cellular component
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0005198	structural molecule activity	IBA	molecular function
GO:0030507	spectrin binding	IBA	molecular function
GO:0051015	actin filament binding	IBA	molecular function
GO:0051016	barbed-end actin filament capping	IBA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003779	actin binding	TAS	molecular function
GO:0055085	transmembrane transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0030097	hemopoiesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0007416	synapse assembly	IEA	biological process
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0030507	spectrin binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0008290	F-actin capping protein complex	IDA	cellular component
GO:0030036	actin cytoskeleton organization	IC	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0051016	barbed-end actin filament capping	IDA	biological process
GO:0051017	actin filament bundle assembly	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003779	actin binding	IMP	molecular function
GO:0044853	plasma membrane raft	IMP	cellular component
GO:0050901	leukocyte tethering or rolling	IMP	biological process
GO:0050900	leukocyte migration	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function

Diseases

Associated diseases	References
Hypertension	PMID:24652215
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq