• Gene id: 10634

Gene Summary

• Gene Symbol: GAS2L1   Gene   UCSC   Ensembl
• Aliases: GAR22
• Gene name: growth arrest specific 2 like 1
• Alternate names: GAS2-like protein 1, GAS2-related protein on chromosome 22, epididymis secretory sperm binding protein, growth arrest-specific protein 2-like 1,
• Gene location: 22q12.2 (29306649: 29312786)     Exons: 6     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. This protein localizes to the proximal end
• OMIM: 602128

Protein Summary

• Protein general information: Q99501  
  • Name: GAS2 like protein 1 (GAS2 related protein on chromosome 22) (Growth arrest specific protein 2 like 1)
  • Length: 681  
  • Mass: 72717
• Sequence:

  MADPVAGIAGSAAKSVRPFRSSEAYVEAMKEDLAEWLNALYGLGLPGGGDGFLTGLATGTTLCQHANAVTEAARA
  LAAARPARGVAFQAHSVVPGSFMARDNVATFIGWCRVELGVPEVLMFETEDLVLRKNEKSVVLCLLEVARRGARL
  GLLAPRLVQFEQEIERELRAAPPAPNAPAAGEDTTETAPAPGTPARGPRMTPSDLRNLDELVREILGRCTCPDQF
  PMIKVSEGKYRVGDSSLLIFVRVLRSHVMVRVGGGWDTLEHYLDKHDPCRCSSTAHRPPQPRVCTFSPQRVSPTT
  SPRPASPVPGSERRGSRPEMTPVSLRSTKEGPETPPRPRDQLPPHPRSRRYSGDSDSSASSAQSGPLGTRSDDTG
  TGPRRERPSRRLTTGTPASPRRPPALRSQSRDRLDRGRPRGAPGGRGAQLSVPSPARRARSQSREEQAVLLVRRD
  RDGQHSWVPRGRGSGGSGRSTPQTPRARSPAAPRLSRVSSPSPELGTTPASIFRTPLQLDPQQEQQLFRRLEEEF
  LANARALEAVASVTPTGPVPDPARAPDPPAPDSAYCSSSSSSSSLSVLGGKCGQPGDSGRTANGLPGPRSQALSS
  SSDEGSPCPGMGGPLDAPGSPLACTEPSRTWARGRMDTQPDRKPSRIPTPRGPRRPSGPAELGTWHALHSVTPRA
  EPDSWM

• Structural information:
  • Protein Domains: (27..14-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (203..27-)
    (/note="GAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00792"-)
  • Interpro: IPR001715  IPR036872  IPR003108  IPR036534  IPR029931  
  • Prosite: PS50021 PS51460
  • CDD: cd00014
  • STRING: ENSP00000481012
• Other Databases: GeneCards:  GAS2L1  Malacards:  GAS2L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0008017	microtubule binding	IBA	molecular function
GO:0051764	actin crosslink formation	IBA	biological process
GO:0008093	cytoskeletal anchor activity	IBA	molecular function
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0008093	cytoskeletal anchor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0097067	cellular response to thyroid hormone stimulus	IDA	biological process
GO:0046966	thyroid hormone receptor binding	IDA	molecular function
GO:1904825	protein localization to microtubule plus-end	IDA	biological process
GO:0009267	cellular response to starvation	ISS	biological process
GO:0007050	cell cycle arrest	ISS	biological process
GO:0035371	microtubule plus-end	IMP	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0031110	regulation of microtubule polymerization or depolymerization	IMP	biological process
GO:0005884	actin filament	IMP	colocalizes with
GO:0001578	microtubule bundle formation	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R