• Gene id: 124930

Gene Summary

• Gene Symbol: ANKRD13B   Gene   UCSC   Ensembl
• Gene name: ankyrin repeat domain 13B
• Alternate names: ankyrin repeat domain-containing protein 13B,
• Gene location: 17q11.2 (29589768: 29615005)     Exons: 19     NC_000017.11
• OMIM: 138491

Protein Summary

• Protein general information: Q86YJ7  
  • Name: Ankyrin repeat domain containing protein 13B
  • Length: 626  
  • Mass: 70205
• Sequence:

  MIPANASARKGPEGKYPLHYLVWHNRHRELEKEVRAGQVDIEQLDPRGRTPLHLATTLGHLECARVLLAHGADVG
  RENRSGWTVLQEAVSTRDLELVQLVLRYRDYQRVVKRLAGIPVLLEKLRKAQDFYVEMKWEFTSWVPLVSKICPS
  DTYKVWKSGQNLRVDTTLLGFDHMTWQRGNRSFVFRGQDTSAVVMEIDHDRRVVYTETLALAGQDRELLLAAAQP
  TEEQVLSRLTAPVVTTQLDTKNISFERNKTGILGWRSEKTEMVNGYEAKVYGASNVELITRTRTEHLSEQHKGKV
  KGCKTPLQSFLGIAEQHGGPQNGTLITQTLSQANPTAITAEEYFNPNFELGNRDMGRPMELTTKTQKFKAKLWLC
  EEHPLSLCEQVAPIIDLMAVSNALFAKLRDFITLRLPPGFPVKIEIPIFHILNARITFGNLNGCDEPVPSVRGSP
  SSETPSPGSDSSSVSSSSSTTSCRGCEISPALFEAPRGYSMMGGQREAATRDDDDDLLQFAIQQSLLEAGSEYDQ
  VTIWEALTNSKPGTHPMSYEGRRQDRSAPPTPQRQPAPPASVPSPRPSSGPGSGGHVFRSYDEQLRLAMELSAQE
  QEERRRRARQEEEELERILRLSLTEQ

• Structural information:
  • Protein Domains: (503..52-)
    (/note="UIM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (585..60-)
    (/note="UIM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (610..62-)
    (/note="UIM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213"-)
  • Interpro: IPR021832  IPR002110  IPR020683  IPR036770  IPR003903  
  • Prosite: PS50297 PS50088 PS50330
  • STRING: ENSP00000378328
• Other Databases: GeneCards:  ANKRD13B  Malacards:  ANKRD13B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0140036	ubiquitin-dependent protein binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0002091	negative regulation of receptor internalization	IMP	biological process
GO:0140036	ubiquitin-dependent protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray