• Gene id: 8470

Gene Summary

• Gene Symbol: SORBS2   Gene   UCSC   Ensembl
• Aliases: ARGBP2, PRO0618
• Gene name: sorbin and SH3 domain containing 2
• Alternate names: sorbin and SH3 domain-containing protein 2, Arg binding protein 2, Arg/Abl-interacting protein 2, arg-binding protein 2,
• Gene location: 4q35.1 (185956371: 185585443)     Exons: 1     NC_000004.12
• Gene summary(Entrez): Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes
• OMIM: 616349

Protein Summary

• Protein general information: O94875  
  • Name: Sorbin and SH3 domain containing protein 2 (Arg binding protein 2) (ArgBP2) (Arg/Abl interacting protein 2) (Sorbin)
  • Length: 1100  
  • Mass: 124108
  • Tissue specificity: Abundantly expressed in heart. In cardiac muscle cells, located in the Z-disks of sarcomere. Also found, but to a lower extent, in small and large intestine, pancreas, thymus, colon, spleen, prostate, testis, brain, ovary and epithelia
• Sequence:

  MSYYQRPFSPSAYSLPASLNSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGI
  GPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPDDDTDMYNTPYTYNAGLYNPPYSAQSHPAAKTQTYRPLS
  KSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQH
  ERPASLYQSSIDRSLERPMSSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSP
  SSPSRAKGGDDSKICPSLCSYSGLNGNPSSELDYCSTYRQHLDVPRDSPRAISFKNGWQMARQNAEIWSSTEETV
  SPKIKSRSCDDLLNDDCDSFPDPKVKSESMGSLLCEEDSKESCPMAWGSPYVPEVRSNGRSRIRHRSARNAPGFL
  KMYKKMHRINRKDLMNSEVICSVKSRILQYESEQQHKDLLRAWSQCSTEEVPRDMVPTRISEFEKLIQKSKSMPN
  LGDDMLSPVTLEPPQNGLCPKRRFSIEYLLEEENQSGPPARGRRGCQSNALVPIHIEVTSDEQPRAHVEFSDSDQ
  DGVVSDHSDYIHLEGSSFCSESDFDHFSFTSSESFYGSSHHHHHHHHHHHRHLISSCKGRCPASYTRFTTMLKHE
  RARHENTEEPRRQEMDPGLSKLAFLVSPVPFRRKKNSAPKKQTEKAKCKASVFEALDSALKDICDQIKAEKKRGS
  LPDNSILHRLISELLPDVPERNSSLRALRRSPLHQPLHPLPPDGAIHCPPYQNDCGRMPRSASFQDVDTANSSCH
  HQDRGGALQDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKAQTSKELSFKKGDTVYILRKIDQNW
  YEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNW
  YEGKIPGTNRQGIFPVSYVEVVKKNTKGAEDYPDPPIPHSYSSDRIHSLSSNKPQRPVFTHENIQGGGEPFQALY
  NYTPRNEDELELRESDVIDVMEKCDDGWFVGTSRRTKFFGTFPGNYVKRL

• Structural information:
  • Protein Domains: (66..12-)
    (/note="SoHo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00195-)
    (863..92-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (938..99-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (-)
  • Interpro: IPR036028  IPR001452  IPR003127  IPR028506  IPR013087  
  • Prosite: PS50002 PS50831
  • PDB: 5VEI
  • PDBsum: 5VEI
  • DIP: 31634
  • STRING: ENSP00000347852
• Other Databases: GeneCards:  SORBS2  Malacards:  SORBS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0007015	actin filament organization	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0008093	cytoskeletal anchor activity	TAS	molecular function
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061049	cell growth involved in cardiac muscle cell development	ISS	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0030018	Z disc	NAS	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005634	nucleus	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray