• Gene id: 84448

Gene Summary

• Gene Symbol: ABLIM2   Gene   UCSC   Ensembl
• Gene name: actin binding LIM protein family member 2
• Alternate names: actin-binding LIM protein 2, abLIM-2, testis tissue sperm-binding protein Li 35a,
• Gene location: 4p16.1 (8158812: 7965311)     Exons: 25     NC_000004.12
• OMIM: 608539

Protein Summary

• Protein general information: Q6H8Q1  
  • Name: Actin binding LIM protein 2 (abLIM 2) (Actin binding LIM protein family member 2)
  • Length: 611  
  • Mass: 67812
  • Tissue specificity: Highly expressed in skeletal muscle. {ECO
• Sequence:

  MSAVSQPQAAPSPLEKSPSTAILCNTCGNVCKGEVLRVQDKYFHIKCFVCKACGCDLAEGGFFVRQGEYICTLDY
  QRLYGTRCFSCDQFIEGEVVSALGKTYHPDCFVCAVCRLPFPPGDRVTFNGKECMCQKCSLPVSVGSSAHLSQGL
  RSCGGCGTEIKNGQALVALDKHWHLGCFKCKSCGKLLNAEYISKDGLPYCEADYHAKFGIRCDSCEKYITGRVLE
  AGEKHYHPSCALCVRCGQMFAEGEEMYLQGSSIWHPACRQAARTEDRNKETRTSSESIISVPASSTSGSPSRVIY
  AKLGGEILDYRDLAALPKSKAIYDIDRPDMISYSPYISHSAGDRQSYGEGDQDDRSYKQCRTSSPSSTGSVSLGR
  YTPTSRSPQHYSRPGSESGRSTPSLSVLSDSKPPPSTYQQAPRHFHVPDTGVKDNIYRKPPIYRQHAARRSDGED
  GSLDQDNRKKSSWLMLKGDADTRTNSPDLDTQSLSHSSGTDRDPLQRMAGDSFHSRFPYSKSDPLPGHGKNGLDQ
  RNANLAPCGADPDASWGMREYKIYPYDSLIVTNRIRVKLPKDVDRTRLERHLSPEEFQEVFGMSIEEFDRLALWK
  RNDLKKKALLF

• Structural information:
  • Protein Domains: (22..8-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (81..14-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (151..21-)
    3 (/note="LIM-zinc-binding)
    (/evidence="ECO:00-)
  • Interpro: IPR028450  IPR032402  IPR003128  IPR036886  IPR001781  
  • Prosite: PS51089 PS00478 PS50023
  • PDB: 1V6G 1WIG 2L3X
  • PDBsum: 1V6G 1WIG 2L3X
  • STRING: ENSP00000393511
• Other Databases: GeneCards:  ABLIM2  Malacards:  ABLIM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0030032	lamellipodium assembly	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray