EPHA5 EPH receptor A5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPHA5provided by HGNC
Official Full Name: EPH receptor A5provided by HGNC
Primary source: HGNC:HGNC:3389
See related: Ensembl:ENSG00000145242 MIM:600004; AllianceGenome:HGNC:3389
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EK7; CEK7; EHK1; HEK7; EHK-1; TYRO4
Summary: This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
Expression: Biased expression in brain (RPKM 4.9), ovary (RPKM 1.0) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.1-q13.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (65319567..65670489, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (68756500..69108844, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (66185285..66536207, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between EPHA5 methylation status in peripheral blood leukocytes and the risk and prognosis of gastric cancer.
Title: Association between EPHA5 methylation status in peripheral blood leukocytes and the risk and prognosis of gastric cancer.
Immunohistochemical evaluation of forkhead box A1 and EphA5 markers in serous ovarian carcinomas, and their impact on the clinical outcome of patients.
Title: Immunohistochemical evaluation of forkhead box A1 and EphA5 markers in serous ovarian carcinomas, and their impact on the clinical outcome of patients.
Expression of EPHA5 in lung adenocarcinoma is associated with lymph node metastasis and EGFR mutation.
Title: Expression of EPHA5 in lung adenocarcinoma is associated with lymph node metastasis and EGFR mutation.
Deep learning model reveals potential risk genes for ADHD, especially Ephrin receptor gene EPHA5.
Title: Deep learning model reveals potential risk genes for ADHD, especially Ephrin receptor gene EPHA5.
Genetic variation in EPHA contributes to sensitivity to paclitaxel-induced peripheral neuropathy.
Title: Genetic variation in EPHA contributes to sensitivity to paclitaxel-induced peripheral neuropathy.
EPHA5 mutation impairs natural killer cell-mediated cytotoxicity against non-small lung cancer cells and promotes cancer cell migration and invasion.
Title: EPHA5 mutation impairs natural killer cell-mediated cytotoxicity against non-small lung cancer cells and promotes cancer cell migration and invasion.
EPHA5 mutations predict survival after immunotherapy in lung adenocarcinoma.
Title: EPHA5 mutations predict survival after immunotherapy in lung adenocarcinoma.
Gene-based analysis identified EPHA6 as the gene most significantly associated with paclitaxel-induced neuropathy...This first study sequencing EPHA genes revealed that low-frequency variants in EPHA6, EPHA5, and EPHA8 contribute to the susceptibility to paclitaxel-induced neuropathy
Title: Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.
Our data indicate that EphA5 receptor may be a tumor suppressor in colorectal carcinoma and it may be a new therapeutic target for colorectal carcinoma.
Title: Reduced expression of EphA5 is associated with lymph node metastasis, advanced TNM stage, and poor prognosis in colorectal carcinoma.
EphA5 protein was negatively (0) or weakly (1+) expressed in 48 of 78 (61.5%), moderately (2+) expressed in 15 of 78 (19.2%) and strongly (3+) expressed in 15 of 78 (19.2%) tumour samples of clear cell renal cell carcinoma (ccRCC). Decreased expression of EphA5 was detected more often in females than in males
Title: Decreased expression of EphA5 is associated with Fuhrman nuclear grade and pathological tumour stage in ccRCC.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-N25770 (e-PCR)
- UniSTS:71693

SHGC4-1516 (e-PCR)
- UniSTS:60961

SHGC-8247 (e-PCR)
- UniSTS:18726

SHGC-67256 (e-PCR)
- UniSTS:50747

D4S1574 (e-PCR), detects polymorphism
- UniSTS:85611

D4S1574 (e-PCR), detects polymorphism
- UniSTS:75664

D4S2683 (e-PCR)
- UniSTS:1191

SHGC-50222 (e-PCR)
- UniSTS:19380

D4S3280 (e-PCR)
- UniSTS:19381

SHGC-13970 (e-PCR)
- UniSTS:18369

RH119182 (e-PCR)
- UniSTS:138691

STS-N22219 (e-PCR)
- UniSTS:2266

EPHA5 (e-PCR)
- UniSTS:519148

RH45566 (e-PCR)
- UniSTS:50932

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GPI-linked ephrin receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables ephrin receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane-ephrin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane-ephrin receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in cAMP-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ephrin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippocampus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron development	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of CREB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in rough endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ephrin type-A receptor 5

Names: EPH homology kinase 1; EPH-like kinase 7; brain-specific kinase; epididymis secretory sperm binding protein; receptor protein-tyrosine kinase HEK7; tyrosine-protein kinase receptor EHK-1

NP_001268694.1

EC 2.7.10.1

NP_001268695.1

EC 2.7.10.1

NP_001268696.1

EC 2.7.10.1

NP_001305690.1

EC 2.7.10.1

NP_004430.4

EC 2.7.10.1

NP_872272.2

EC 2.7.10.1

XP_005265710.1

EC 2.7.10.1

XP_011530037.1

EC 2.7.10.1

XP_016863367.1

EC 2.7.10.1

XP_016863369.1

EC 2.7.10.1

XP_016863370.1

EC 2.7.10.1

XP_047305718.1

EC 2.7.10.1

XP_047305719.1

EC 2.7.10.1

XP_054205160.1

EC 2.7.10.1

XP_054205161.1

EC 2.7.10.1

XP_054205162.1

EC 2.7.10.1

XP_054205163.1

EC 2.7.10.1

XP_054205164.1

EC 2.7.10.1

XP_054205165.1

EC 2.7.10.1

XP_054205166.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001281765.3 → NP_001268694.1 ephrin type-A receptor 5 isoform c

See identical proteins and their annotated locations for NP_001268694.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest protein (isoform c).

Source sequence(s)

AC018683, AC104137, BC136257, BX537946

Consensus CDS

CCDS75133.1

UniProtKB/TrEMBL

B7ZKJ3, Q59FT4

Related

ENSP00000480763.1, ENST00000622150.4

Conserved Domains (7) summary

cd09546
Location:966 → 1031

SAM_EPH-A5; SAM domain of EPH-A5 subfamily of tyrosine kinase receptors

smart00454
Location:970 → 1028

SAM; Sterile alpha motif

cd10483
Location:60 → 232

EphR_LBD_A5; Ligand Binding Domain of Ephrin type-A Receptor 5

cd00063
Location:469 → 559

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:671 → 937

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam07714
Location:676 → 933

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:579 → 671

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
NM_001281766.3 → NP_001268695.1 ephrin type-A receptor 5 isoform d

See identical proteins and their annotated locations for NP_001268695.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the coding region compared to variant 3. The resulting protein (isoform d) is shorter but has the same N- and C-termini compared to isoform c.

Source sequence(s)

AC018683, AC104137, BC143427, BX537946

Consensus CDS

CCDS75131.1

UniProtKB/TrEMBL

B7ZKW7, Q59FT4

Related

ENSP00000478537.1, ENST00000613740.5

Conserved Domains (7) summary

cd09546
Location:944 → 1009

SAM_EPH-A5; SAM domain of EPH-A5 subfamily of tyrosine kinase receptors

smart00454
Location:948 → 1006

SAM; Sterile alpha motif

cd10483
Location:60 → 232

EphR_LBD_A5; Ligand Binding Domain of Ephrin type-A Receptor 5

cd00063
Location:469 → 559

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:649 → 915

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam07714
Location:654 → 911

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:579 → 649

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
NM_001281767.3 → NP_001268696.1 ephrin type-A receptor 5 isoform e

See identical proteins and their annotated locations for NP_001268696.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) includes a 3' terminal exon that extends past a splice site used in variant c, resulting in a different 3' coding region and 3' UTR. The resulting protein (isoform e) is shorter and has a distinct C-terminus compared to isoform c.

Source sequence(s)

AB209375, AC018683, AC104137, BM664168, H11658

Consensus CDS

CCDS75132.1

UniProtKB/TrEMBL

F8VP57, Q59FT4

Related

ENSP00000427638.1, ENST00000511294.1

Conserved Domains (6) summary

cd10483
Location:60 → 232

EphR_LBD_A5; Ligand Binding Domain of Ephrin type-A Receptor 5

cd00063
Location:469 → 559

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:671 → 937

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam00041
Location:359 → 447

fn3; Fibronectin type III domain

pfam14575
Location:576 → 673

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl15755
Location:966 → 1004

SAM_superfamily; SAM (Sterile alpha motif )
NM_001318761.2 → NP_001305690.1 ephrin type-A receptor 5 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 3. The resulting protein (isoform f) has a shorter N-terminus compared to isoform c.

Source sequence(s)

AC018683, BC136258, BX537946

UniProtKB/TrEMBL

Q59FT4

Conserved Domains (7) summary

cd09546
Location:897 → 962

SAM_EPH-A5; SAM domain of EPH-A5 subfamily of tyrosine kinase receptors

smart00454
Location:901 → 959

SAM; Sterile alpha motif

cd00063
Location:400 → 490

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:602 → 868

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam07714
Location:607 → 864

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:510 → 602

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl02704
Location:1 → 163

EphR_LBD; Ligand Binding Domain of Ephrin Receptors
NM_004439.8 → NP_004430.4 ephrin type-A receptor 5 isoform a

See identical proteins and their annotated locations for NP_004430.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) used an alternate splice site in the coding region compared to variant 3. The resulting protein (isoform a) is shorter but has the same N- and C-termini compared to isoform c.

Source sequence(s)

AB209375, AC018683, AC104137, BC136257, BX537946, X95425

Consensus CDS

CCDS3513.1

UniProtKB/Swiss-Prot

P54756, Q7Z3F2

UniProtKB/TrEMBL

A0A384MU00, Q59FT4

Related

ENSP00000273854.3, ENST00000273854.7

Conserved Domains (6) summary

cd09546
Location:965 → 1030

SAM_EPH-A5; SAM domain of EPH-A5 subfamily of tyrosine kinase receptors

cd10483
Location:60 → 232

EphR_LBD_A5; Ligand Binding Domain of Ephrin type-A Receptor 5

cd00063
Location:469 → 559

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:670 → 936

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam00041
Location:359 → 447

fn3; Fibronectin type III domain

pfam14575
Location:578 → 670

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
NM_182472.5 → NP_872272.2 ephrin type-A receptor 5 isoform b

See identical proteins and their annotated locations for NP_872272.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site and lacks an alternate exon in the coding region compared to variant 3. The resulting protein (isoform b) is shorter but has the same N- and C-termini compared to isoform c.

Source sequence(s)

AB209375, AC018683, AC104137, BC136257, BX537946, L36644, X95425

Consensus CDS

CCDS3514.1

UniProtKB/TrEMBL

Q59FT4

Related

ENSP00000346899.4, ENST00000354839.8

Conserved Domains (7) summary

cd09546
Location:943 → 1008

SAM_EPH-A5; SAM domain of EPH-A5 subfamily of tyrosine kinase receptors

smart00454
Location:947 → 1005

SAM; Sterile alpha motif

cd10483
Location:60 → 232

EphR_LBD_A5; Ligand Binding Domain of Ephrin type-A Receptor 5

cd00063
Location:469 → 559

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:648 → 914

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam07714
Location:653 → 910

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:578 → 648

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

65319567..65670489 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047449763.1 → XP_047305719.1 ephrin type-A receptor 5 isoform X5
XM_017007880.3 → XP_016863369.1 ephrin type-A receptor 5 isoform X6

UniProtKB/TrEMBL

Q59FT4
XM_005265653.5 → XP_005265710.1 ephrin type-A receptor 5 isoform X4

UniProtKB/TrEMBL

F8W9W0, Q59FT4

Related

ENSP00000389208.2, ENST00000432638.6

Conserved Domains (7) summary

cd09546
Location:802 → 867

SAM_EPH-A5; SAM domain of EPH-A5 subfamily of tyrosine kinase receptors

smart00454
Location:806 → 864

SAM; Sterile alpha motif

cd10483
Location:60 → 232

EphR_LBD_A5; Ligand Binding Domain of Ephrin type-A Receptor 5

cd00063
Location:305 → 395

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:507 → 773

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam07714
Location:512 → 769

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:415 → 507

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
XM_047449762.1 → XP_047305718.1 ephrin type-A receptor 5 isoform X3
XM_017007878.3 → XP_016863367.1 ephrin type-A receptor 5 isoform X2

UniProtKB/TrEMBL

Q59FT4
XM_011531735.4 → XP_011530037.1 ephrin type-A receptor 5 isoform X1

UniProtKB/TrEMBL

Q59FT4

Conserved Domains (7) summary

cd09546
Location:854 → 919

SAM_EPH-A5; SAM domain of EPH-A5 subfamily of tyrosine kinase receptors

smart00454
Location:858 → 916

SAM; Sterile alpha motif

cd10483
Location:60 → 232

EphR_LBD_A5; Ligand Binding Domain of Ephrin type-A Receptor 5

cd00063
Location:357 → 447

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05066
Location:559 → 825

PTKc_EphR_A; Catalytic domain of the Protein Tyrosine Kinases, Class EphA Ephrin Receptors

pfam07714
Location:564 → 821

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:467 → 559

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
XM_017007881.3 → XP_016863370.1 ephrin type-A receptor 5 isoform X7

UniProtKB/TrEMBL

Q59FT4

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

68756500..69108844 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349189.1 → XP_054205164.1 ephrin type-A receptor 5 isoform X5
XM_054349190.1 → XP_054205165.1 ephrin type-A receptor 5 isoform X6
XM_054349188.1 → XP_054205163.1 ephrin type-A receptor 5 isoform X4

UniProtKB/TrEMBL

F8W9W0
XM_054349187.1 → XP_054205162.1 ephrin type-A receptor 5 isoform X3
XM_054349186.1 → XP_054205161.1 ephrin type-A receptor 5 isoform X2
XM_054349185.1 → XP_054205160.1 ephrin type-A receptor 5 isoform X1
XM_054349191.1 → XP_054205166.1 ephrin type-A receptor 5 isoform X7