• Gene id: 22997

Gene Summary

• Gene Symbol: IGSF9B   Gene   UCSC   Ensembl
• Aliases: LINC00947, MIR4697HG
• Gene name: immunoglobulin superfamily member 9B
• Alternate names: protein turtle homolog B, MIR4697 host gene (non-protein coding), long intergenic non-protein coding RNA 947,
• Gene location: 11q25 (133956967: 133896437)     Exons: 20     NC_000011.10
• OMIM: 609095

Protein Summary

• Protein general information: Q9UPX0  
  • Name: Protein turtle homolog B (Immunoglobulin superfamily member 9B) (IgSF9B)
  • Length: 1349  
  • Mass: 147089
• Sequence:

  MIWYVATFIASVIGTRGLAAEGAHGLREEPEFVTARAGESVVLRCDVIHPVTGQPPPYVVEWFKFGVPIPIFIKF
  GYYPPHVDPEYAGRASLHDKASLRLEQVRSEDQGWYECKVLMLDQQYDTFHNGSWVHLTINAPPTFTETPPQYIE
  AKEGGSITMTCTAFGNPKPIVTWLKEGTLLGASGKYQVSDGSLTVTSVSREDRGAYTCRAYSIQGEAVHTTHLLV
  QGPPFIVSPPENITVNISQDALLTCRAEAYPGNLTYTWYWQDENVYFQNDLKLRVRILIDGTLIIFRVKPEDSGK
  YTCVPSNSLGRSPSASAYLTVQYPARVLNMPPVIYVPVGIHGYIRCPVDAEPPATVVKWNKDGRPLQVEKNLGWT
  LMEDGSIRIEEATEEALGTYTCVPYNTLGTMGQSAPARLVLKDPPYFTVLPGWEYRQEAGRELLIPCAAAGDPFP
  VITWRKVGKPSRSKHSALPSGSLQFRALSKEDHGEWECVATNVVTSITASTHLTVIGTSPHAPGSVRVQVSMTTA
  NVSWEPGYDGGYEQTFSVWMKRAQFGPHDWLSLPVPPGPSWLLVDTLEPETAYQFSVLAQNKLGTSAFSEVVTVN
  TLAFPITTPEPLVLVTPPRCLIANRTQQGVLLSWLPPANHSFPIDRYIMEFRVAERWELLDDGIPGTEGEFFAKD
  LSQDTWYEFRVLAVMQDLISEPSNIAGVSSTDIFPQPDLTEDGLARPVLAGIVATICFLAAAILFSTLAACFVNK
  QRKRKLKRKKDPPLSITHCRKSLESPLSSGKVSPESIRTLRAPSESSDDQGQPAAKRMLSPTREKELSLYKKTKR
  AISSKKYSVAKAEAEAEATTPIELISRGPDGRFVMDPAEMEPSLKSRRIEGFPFAEETDMYPEFRQSDEENEDPL
  VPTSVAALKSQLTPLSSSQESYLPPPAYSPRFQPRGLEGPGGLEGRLQATGQARPPAPRPFHHGQYYGYLSSSSP
  GEVEPPPFYVPEVGSPLSSVMSSPPLPTEGPFGHPTIPEENGENASNSTLPLTQTPTGGRSPEPWGRPEFPFGGL
  ETPAMMFPHQLPPCDVPESLQPKAGLPRGLPPTSLQVPAAYPGILSLEAPKGWAGKSPGRGPVPAPPAAKWQDRP
  MQPLVSQGQLRHTSQGMGIPVLPYPEPAEPGAHGGPSTFGLDTRWYEPQPRPRPSPRQARRAEPSLHQVVLQPSR
  LSPLTQSPLSSRTGSPELAARARPRPGLLQQAEMSEITLQPPAAVSFSRKSTPSTGSPSQSSRSGSPSYRPAMGF
  TTLATGYPSPPPGPAPAGPGDSLDVFGQTPSPRRTGEELLRPETPPPTLPTSGKLQRDRPAPATSPPERALSKL

• Structural information:
  • Protein Domains: (24..12-)
    (/note="Ig-like-1)
    (139..22-)
    (/note="Ig-like-2)
    (228..32-)
    (/note="Ig-like-3)
    (324..41-)
    (/note="Ig-like-4)
    (420..50-)
    (/note="Ig-like-5)
    (512..60-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:00002-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR003599  IPR003598  IPR013106  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000436552
• Other Databases: GeneCards:  IGSF9B  Malacards:  IGSF9B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0099629	postsynaptic specialization of symmetric synapse	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0099560	synaptic membrane adhesion	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0019900	kinase binding	IEA	molecular function
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0097151	positive regulation of inhibitory postsynaptic potential	IEA	biological process
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component

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
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray