• Gene id: 64753

Gene Summary

• Gene Symbol: CCDC136   Gene   UCSC   Ensembl
• Aliases: NAG6
• Gene name: coiled-coil domain containing 136
• Alternate names: coiled-coil domain-containing protein 136, nasopharyngeal carcinoma-associated gene 6 protein,
• Gene location: 7q32.1 (128790761: 128822129)     Exons: 24     NC_000004.12
• OMIM: 611902

Protein Summary

• Protein general information: Q96JN2  
  • Name: Coiled coil domain containing protein 136 (Nasopharyngeal carcinoma associated gene 6 protein)
  • Length: 1154  
  • Mass: 134045
  • Tissue specificity: Expressed in gastric tissues. Down-regulated in gastric cancer. {ECO
• Sequence:

  MQAMEGEVLLPALYEEEEEEEEEEEEVEEEEEQVQKGGSVGSLSVNKHRGLSLTETELEELRAQVLQLVAELEET
  RELAGQHEDDSLELQGLLEDERLASAQQAEVFTKQIQQLQGELRSLREEISLLEHEKESELKEIEQELHLAQAEI
  QSLRQAAEDSATEHESDIASLQEDLCRMQNELEDMERIRGDYEMEIASLRAEMEMKSSEPSGSLGLSDYSGLQEE
  LQELRERYHFLNEEYRALQESNSSLTGQLADLESERTQRATERWLQSQTLSMTSAESQTSEMDFLEPDPEMQLLR
  QQLRDAEEQMHGMKNKCQELCCELEELQHHRQVSEEEQRRLQRELKCAQNEVLRFQTSHSVTQNEELKSRLCTLQ
  KKYDTSQDEQNELLKMQLQLQTELRQLKVMKSTLVENQSEKELLCRLQKLHLQHQNVTCEKEKLLERQQQLQEEL
  QCHEAELQHLRDTVASFKESNEKDTETHAQLQEMKQLYQASKDELERQKHMYDQLEQDLLLCQLELKELKASHPI
  PEDKGKCANKCDTLLSRLTELQEKYKASQKEMGQLQMEQCELLEDQRRMQEEQGQLQEELHRLTLPLPKSGLLLK
  SQELLTKLEDLCELQLLYQGMQEEQKKLIQNQDCVLKEQLEIHEELRRFKESHFQEVLENPDDSKLAKSSKCNRN
  KQSKLLMEQMQALQVMYDAGQAKQELLQQEQGRLLEERKRLQADLQLCLEEMQLLQVQSPSIKMSLESYGKSYGS
  MVPSNENCRKTYDTTVDDNESYYKSYTSTQTSSKSFLKSYDSSTSASEAYGKSYCTTSNSSITYKKSYGSTSSSD
  TCQKSFVSSCTDEEPAEPEDMERFEEMVVKVLIKLQAVQAMYQISQEEHSQLQEQMEKLLAKQKDLKEELDACER
  EFKECMECLEKPMAPQNDKNEIKELQTKLRELQLQYQASMDEQGRLLVVQEQLEGQLQCCQEELRQLREKRPSVV
  KEARGKNANKNMNKNANGVKMKKVTKPCSDTSESDLETRKSLEVVLYYKASQRKLDGLAKEEEKKEEMEEEKKQV
  KEEAKEQCGDELVAEPADPEEAKSTEDQEENEEDKEEEEKEEDSEEEEDDADSSLESPEENNPLRLSESKKSSPT
  PNPPIFSLPLVGLVVISALLWCWWAETSS

• Structural information:
  • STRING: ENSP00000297788
• Other Databases: GeneCards:  CCDC136  Malacards:  CCDC136

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007338	single fertilization	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0002080	acrosomal membrane	ISS	cellular component
GO:0001675	acrosome assembly	ISS	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0002080	acrosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
Required for acrosome formation and fertilization	MIK: 27076447
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Male infertility	MIK: 27076447
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27076447	Required for acrosome formation and fertilization, Male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray