• Gene id: 201134

Gene Summary

• Gene Symbol: CEP112   Gene   UCSC   Ensembl
• Aliases: CCDC46, MACOCO
• Gene name: centrosomal protein 112
• Alternate names: centrosomal protein of 112 kDa, centrosomal protein 112kDa, coiled-coil domain-containing protein 46,
• Gene location: 17q24.1 (66192132: 65635536)     Exons: 37     NC_000017.11
• Gene summary(Entrez): This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the

Protein Summary

• Protein general information: Q8N8E3  
  • Name: Centrosomal protein of 112 kDa (Cep112) (Coiled coil domain containing protein 46)
  • Length: 955  
  • Mass: 112749
• Sequence:

  MEVGSEEEKWEKLDAEFDHFVVDMKPFVLKLPHRTERQRCALWIRKLCEPSGTGAGIMGRKNRNLYAKLLLHMLK
  RGALEGPFTHRPEPGTLKILPSYMSIYFDEPNPARAKGSSPEGLPAWVLGELETSEHKLNESWKLSSGEDNTLVQ
  SPTDVYSREQYTGKLRVRSHSLSPTHREDGQNITPKICEVYSKKSPVSLDDSDIEARLNSWNLGIENPRYLRQKP
  IPVSLMTPKFSLRKSSSFHDDHFLSRIREKELDMKTKMMEAKFHEEKLKLQQKHDADVQKILERKNNEIEELKTL
  YRSKQHETEETIRKLEKKVQTLIRDCQVIRETKEDQIAELKKICEQSTESLNNDWEKKLHNAVAEMEQEKFDLQK
  QHTENIQELLEDTNVRLNKMESEYMAQTQSTNHMIKELEARVQQLTGEAENSNLQRQKLIQEKAELERCYQITCS
  ELQEVKARRNTLHKEKDHLVNDYEQNMKLLQTKYDADINLLKQEHALSASKASSMIEELEQNVCQLKQQLQESEL
  QRKQQLRDQENKFQMEKSHLKHIYEKKAHDLQSELDKGKEDTQKKIHKFEEALKEKEEQLTRVTEVQRLQAQQAD
  AALEEFKRQVELNSEKVYAEMKEQMEKVEADLTRSKSLREKQSKEFLWQLEDIRQRYEQQIVELKLEHEQEKTHL
  LQQHNAEKDSLVRDHEREIENLEKQLRAANMEHENQIQEFKKRDAQVIADMEAQVHKLREELINVNSQRKQQLVE
  LGLLREEEKQRATREHEIVVNKLKAESEKMKIELKKTHAAETEMTLEKANSKLKQIEKEYTQKLAKSSQIIAELQ
  TTISSLKEENSQQQLAAERRLQDVRQKFEDEKKQLIRDNDQAIKVLQDELENRSNQVRCAEKKLQHKELESQEQI
  TYIRQEYETKLKGLMPASLRQELEDTISSLKSQVNFLQKRASILQEELTTYQGRR

• Structural information:
  • Interpro: IPR027831  
  • STRING: ENSP00000376522
• Other Databases: GeneCards:  CEP112  Malacards:  CEP112

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0097120	receptor localization to synapse	IEA	biological process
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component

Diseases

Associated diseases	References
Acephalic spermatozoa	MIK: 31654588
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31654588	Acephalic spermatozoa	c.2074C?>?T:p.(Arg692Trp) in exon 20 and c.2104C?>?T:p.(Arg702Cys) in exon 20		2 cases	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq