• Gene id: 10959

Gene Summary

• Gene Symbol: TMED2   Gene   UCSC   Ensembl
• Aliases: P24A, RNP24, p24, p24b1, p24beta1
• Gene name: transmembrane p24 trafficking protein 2
• Alternate names: transmembrane emp24 domain-containing protein 2, coated vesicle membrane protein, membrane protein p24A, p24 family protein beta-1, transmembrane emp24 domain trafficking protein 2,
• Gene location: 12q24.31 (123584551: 123598581)     Exons: 5     NC_000012.12

Protein Summary

• Protein general information: Q15363  
  • Name: Transmembrane emp24 domain containing protein 2 (Membrane protein p24A) (p24) (p24 family protein beta 1) (p24beta1)
  • Length: 201  
  • Mass: 22761
• Sequence:

  MVTLAELLVLLAALLATVSGYFVSIDAHAEECFFERVTSGTKMGLIFEVAEGGFLDIDVEITGPDNKGIYKGDRE
  SSGKYTFAAHMDGTYKFCFSNRMSTMTPKIVMFTIDIGEAPKGQDMETEAHQNKLEEMINELAVAMTAVKHEQEY
  MEVRERIHRAINDNTNSRVVLWSFFEALVLVAMTLGQIYYLKRFFEVRRVV

• Structural information:
  • Protein Domains: (30..11-)
    (/note="GOLD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00096"-)
  • Interpro: IPR009038  IPR036598  IPR015720  
  • Prosite: PS50866
  • PDB: 5AZW
  • PDBsum: 5AZW
  • STRING: ENSP00000262225
• Other Databases: GeneCards:  TMED2  Malacards:  TMED2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	ISS	cellular component
GO:0042589	zymogen granule membrane	ISS	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	biological process
GO:0007030	Golgi organization	IBA	biological process
GO:0030134	COPII-coated ER to Golgi transport vesicle	IBA	cellular component
GO:0072659	protein localization to plasma membrane	IDA	biological process
GO:0034260	negative regulation of GTPase activity	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006886	intracellular protein transport	IDA	biological process
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0048205	COPI coating of Golgi vesicle	TAS	biological process
GO:0035459	vesicle cargo loading	TAS	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0036342	post-anal tail morphogenesis	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0032525	somite rostral/caudal axis specification	IEA	biological process
GO:0001893	maternal placenta development	IEA	biological process
GO:0001892	embryonic placenta development	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0042589	zymogen granule membrane	IEA	cellular component
GO:0030137	COPI-coated vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0030663	COPI-coated vesicle membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0030137	COPI-coated vesicle	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881