• Gene id: 84034

Gene Summary

• Gene Symbol: EMILIN2   Gene   UCSC   Ensembl
• Aliases: EMILIN-2, FOAP-10
• Gene name: elastin microfibril interfacer 2
• Alternate names: EMILIN-2, elastin microfibril interface-located protein 2, extracellular glycoprotein EMILIN-2,
• Gene location: 18p11.32-p11.31 (2847005: 2916002)     Exons: 9     NC_000018.10
• OMIM: 606605

Protein Summary

• Protein general information: Q9BXX0  
  • Name: EMILIN 2 (Elastin microfibril interface located protein 2) (Elastin microfibril interfacer 2) (Protein FOAP 10)
  • Length: 1053  
  • Mass: 115687
  • Tissue specificity: Highest levels are present in fetal heart and adult lung. Intermediate levels in peripheral leukocytes, placenta, and spinal cord and low expression in fetal brain, spleen, thymus, and lung and in adult heart, aorta, testis, bone marro
• Sequence:

  MWQPRRPWPRVPWRWALALLALVGAGLCHAGPQPGYPARPSARNKNWCAYIVNKNVSCSVLEGSESFIQAQYNCA
  WNQMPCPSALVYRVNFRPRYVTRYKTVTQLEWRCCPGFRGGDCQEGPKDPVKTLRPTPARPRNSLKKATDNEPSQ
  FSEPRKTLSPTGTAQPSWGVDPKEGPQELQEKKIQVLEEKVLRLTRTVLDLQSSLAGVSENLKHATQDDASRTRA
  PGLSSQHPKPDTTVSGDTETGQSPGVFNTKESGMKDIKSELAEVKDTLKNKSDKLEELDGKVKGYEGQLRQLQEA
  AQGPTVTMTTNELYQAYVDSKIDALREELMEGMDRKLADLKNSCEYKLTGLQQQCDDYGSSYLGVIELIGEKETS
  LRKEINNLRARLQEPSAQANCCDSEKNGDIGQQIKTLDQKIERVAEATRMLNGRLDNEFDRLIVPEPDVDFDAKW
  NELDARINVTEKNAEEHCFYIEETLRGAINGEVGDLKQLVDQKIQSLEDRLGSVLLQMTNNTGAELSPPGAAALP
  GVSGSGDERVMMELNHLKDKVQVVEDICLLNIQGKPHGMEGALPNREDRAVRDSLHLLKSLNDTMHRKFQETEQT
  IQKLQQDFSFLYSQLNHTENDVTHLQKEMSNCRAGENAGMGRFTKVGEQERTVDTLPSPQHPVAHCCSQLEERWQ
  RLQSQVISELDACKECTQGVQREVSMVEGRVSHMEKTCSKLDSISGNLQRIKEGLNKHVSSLWNCVRQMNGTLRS
  HSRDISGLKNSVQQFYSHVFQISTDLQDLVKFQPSAKAPSPPPPAEAPKEPLQPEPAPPRPSGPATAEDPGRRPV
  LPQRPPEERPPQPPGSTGVIAETGQAGPPAGAGVSGRGLPRGVDGQTGSGTVPGAEGFAGAPGYPKSPPVASPGA
  PVPSLVSFSAGLTQKPFPSDGGVVLFNKVLVNDGDVYNPSTGVFTAPYDGRYLITATLTPERDAYVEAVLSVSNA
  SVAQLHTAGYRREFLEYHRPPGALHTCGGPGAFHLIVHLKAGDAVNVVVTGGKLAHTDFDEMYSTFSGVFLYPFL
  SHL

• Structural information:
  • Protein Domains: (44..12-)
    (/note="EMI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00384-)
    (840..89-)
    (/note="Collagen-like-)
    (901..105-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR011489  IPR008983  
  • Prosite: PS50871 PS51041
  • STRING: ENSP00000254528
• Other Databases: GeneCards:  EMILIN2  Malacards:  EMILIN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030023	extracellular matrix constituent conferring elasticity	NAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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