• Gene id: 1946

Gene Summary

• Gene Symbol: EFNA5   Gene   UCSC   Ensembl
• Aliases: AF1, EFL5, EPLG7, GLC1M, LERK7, RAGS
• Gene name: ephrin A5
• Alternate names: ephrin-A5, AL-1, LERK-7, eph-related receptor tyrosine kinase ligand 7,
• Gene location: 5q21.3 (107670936: 107376888)     Exons: 8     NC_000005.10
• Gene summary(Entrez): Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily
• OMIM: 601535

SNPs

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: P52803  
  • Name: Ephrin A5 (AL 1) (EPH related receptor tyrosine kinase ligand 7) (LERK 7)
  • Length: 228  
  • Mass: 26297
• Sequence:

  MLHVEMLTLVFLVLWMCVFSQDPGSKAVADRYAVYWNSSNPRFQRGDYHIDVCINDYLDVFCPHYEDSVPEDKTE
  RYVLYMVNFDGYSACDHTSKGFKRWECNRPHSPNGPLKFSEKFQLFTPFSLGFEFRPGREYFYISSAIPDNGRRS
  CLKLKVFVRPTNSCMKTIGVHDRVFDVNDKVENSLEPADDTVHESAEPSRGENAAQTPRIPSRLLAILLFLLAML
  LTL

• Structural information:
  • Protein Domains: (29..16-)
    (/note="Ephrin-RBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00884"-)
  • Interpro: IPR008972  IPR031328  IPR034252  IPR019765  IPR001799  
  • Prosite: PS01299 PS51551
  • CDD: cd10425
  • PDB: 2X11 3MX0 4BK5 4BKA 4L0P 4M4R
  • PDBsum: 2X11 3MX0 4BK5 4BKA 4L0P 4M4R
  • DIP: 48296
  • STRING: ENSP00000328777
• Other Databases: GeneCards:  EFNA5  Malacards:  EFNA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022407	regulation of cell-cell adhesion	IBA	biological process
GO:0046875	ephrin receptor binding	IBA	molecular function
GO:0048013	ephrin receptor signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0031362	anchored component of external side of plasma membrane	IBA	cellular component
GO:0032956	regulation of actin cytoskeleton organization	IBA	biological process
GO:0048013	ephrin receptor signaling pathway	IDA	biological process
GO:0022407	regulation of cell-cell adhesion	IDA	biological process
GO:0070507	regulation of microtubule cytoskeleton organization	IDA	biological process
GO:0051893	regulation of focal adhesion assembly	IDA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IDA	biological process
GO:0043087	regulation of GTPase activity	IDA	biological process
GO:0031362	anchored component of external side of plasma membrane	IDA	cellular component
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0046875	ephrin receptor binding	IPI	molecular function
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	ISS	biological process
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:1900025	negative regulation of substrate adhesion-dependent cell spreading	IDA	biological process
GO:0022604	regulation of cell morphogenesis	IDA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071944	cell periphery	IEA	cellular component
GO:0071372	cellular response to follicle-stimulating hormone stimulus	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0048672	positive regulation of collateral sprouting	IEA	biological process
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0045499	chemorepellent activity	IEA	molecular function
GO:0031290	retinal ganglion cell axon guidance	IEA	biological process
GO:0022407	regulation of cell-cell adhesion	IEA	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005169	neurotrophin TRKB receptor binding	IEA	molecular function
GO:1904322	cellular response to forskolin	IEA	biological process
GO:0099560	synaptic membrane adhesion	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0048668	collateral sprouting	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	NAS	molecular function
GO:0005168	neurotrophin TRKA receptor binding	NAS	molecular function
GO:0005169	neurotrophin TRKB receptor binding	NAS	molecular function
GO:0005170	neurotrophin TRKC receptor binding	NAS	molecular function
GO:0001934	positive regulation of protein phosphorylation	NAS	biological process
GO:0005901	caveola	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0050919	negative chemotaxis	IEA	biological process
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IEA	biological process
GO:0006915	apoptotic process	IDA	NOT|biological process
GO:0046875	ephrin receptor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04010	MAPK signaling pathway
hsa05206	MicroRNAs in cancer
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04360	Axon guidance

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray