• Gene id: 55057

Gene Summary

• Gene Symbol: CRYBG2   Gene   UCSC   Ensembl
• Aliases: AIM1L
• Gene name: crystallin beta-gamma domain containing 2
• Alternate names: beta/gamma crystallin domain-containing protein 2, absent in melanoma 1 like, absent in melanoma 1-like protein, beta-gamma crystallin domain containing 2,
• Gene location: 1p36.11 (26354129: 26321858)     Exons: 22     NC_000001.11

Protein Summary

• Protein general information: Q8N1P7  
  • Name: Beta/gamma crystallin domain containing protein 2 (Absent in melanoma 1 like protein)
  • Length: 1661  
  • Mass: 177913
• Sequence:

  MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRREEVEVNGFATQEEET
  VNCQGPRDTAGSKNFQSHGPIFSKKYIPPPKEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGP
  REPSPHPGVGLTSGSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRPVSSGEALPRGRQVSRMVPPVVVGSP
  PGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASA
  HLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVV
  PTHPGARLTPLVLPPKKKDGPVDPPAATVLPMVRSEHVTVPGQPPAPSTTRRKDVPSPGGLSAPSSPRNKFVQNS
  ENVPVLPFTQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKGPGAPAASSPTQKEVVQGSSAPAALF
  PTWKEVVKGPGAPDASFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALSTTPKEVVKGPGAPAASSPTQKEVV
  KGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQGPKGSSSIQKEAVQGIAGSLAPPLTKEETVQGPIAPATSL
  PKQDKGVQDSEGSPISSLTQKEVVQDPDALPAPSSSVDRVSPSPGGTPAPVPTGAEASTESQLVSDPTEGKTCTE
  TSREEDEVALAADLEIFLDTLRSMEPPEILRTHRLPRAPRSSYLSMYATLPAIEEDQLGPWVLGPGPQEVPSLEE
  KEEEEEEEPENPYLSDDEKLQRRQEKAGPSPSRDLHPARPTQVSCSPLEMMKKHVAGTKGPHSELGLELQGGSRP
  TSRLGGSLLFGSLVPTAKEASTPEPLGTKLSALLPHGAPGLRKVPGQLPLLCSERSSPTEKLACSLPLEGWSPAL
  KTQGKLNTRPGKVIFFSESGCQGSGREVWGDIVDASGWAPVASIRVVRGCWVLYEEPEFRGQKLVLPEGDMELRT
  PGTKWSPQGIGSLRRVVWDYSTPEISLFSEEGLKGEQVKLTEALKNSQGLEKPLQVASATVSAGLWLLYPKPLFE
  DTPYILEPGEYPTSEAWGTSDPSVGSLKPMRLGCPSVEKPGEPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQS
  PHLASVGSLRVLGGCWVGYEKEGFRGHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFGDPAVVLFEAMDFEGH
  GVEVSKALPDVELVQHGPSTQAIHVLSGVWVAYQEVGFSGEQYVLEKGVYRNCEDWGAGNSTLASLQPVLQVGEH
  DLHFVSKIQLFSRPDFLGDHFSFEDDQAALPASFRPQSCRVHGGSWILFDETNFEGDQHILSEGEFPTLTAMGCL
  ASTVLGSLQKVSLHFSEPSIFLYGLECFEGKEIELSREVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWL
  VGSCEITNWLTYSGTQRVGSLYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVADPQAGGSCIWYYEDGL
  LKNQMAPTMSLQVIGPPSPGSKVVLWAESRLPRQTWSISESGHICSQMFEGQILDVKGGRGYDRDHVVLWEPDED
  RASQIWTIHVL

• Structural information:
  • Protein Domains: (986..102-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (1024..106-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (1073..111-)
    (/not-)
  • Interpro: IPR001064  IPR011024  IPR035992  IPR000772  
  • Prosite: PS50915 PS50231
  • STRING: ENSP00000310435
• Other Databases: GeneCards:  CRYBG2  Malacards:  CRYBG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030246	carbohydrate binding	IEA	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray