EPHA7 EPH receptor A7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPHA7provided by HGNC
Official Full Name: EPH receptor A7provided by HGNC
Primary source: HGNC:HGNC:3390
See related: Ensembl:ENSG00000135333 MIM:602190; AllianceGenome:HGNC:3390
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: EHK3; EK11; EHK-3; HEK11
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. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Expression: Broad expression in prostate (RPKM 3.4), kidney (RPKM 2.8) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q16.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (93240020..93419559, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (94452021..94631561, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (93949738..94129277, complement)

Chromosome 6 - NC_000006.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

STAT3-EphA7 axis contributes to the progression of esophageal squamous cell carcinoma.
Title: STAT3-EphA7 axis contributes to the progression of esophageal squamous cell carcinoma.
Circulating microRNA-944 and its target gene EPHA7 as a potential biomarker for colorectal cancer.
Title: Circulating microRNA-944 and its target gene EPHA7 as a potential biomarker for colorectal cancer.
The identification and validation of EphA7 hypermethylation, a novel biomarker, in cervical cancer.
Title: The identification and validation of EphA7 hypermethylation, a novel biomarker, in cervical cancer.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Title: EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Crystal structure of clinically reported mutations Gly656Arg, Gly656Glu and Asp751His identified in the kinase domain of EphA7.
Title: Crystal structure of clinically reported mutations Gly656Arg, Gly656Glu and Asp751His identified in the kinase domain of EphA7.
Identification of the soluble EphA7-interacting protein Nicalin as a regulator of EphA7 expression.
Title: Identification of the soluble EphA7-interacting protein Nicalin as a regulator of EphA7 expression.
Long noncoding RNA KCNQ1OT1 promotes proliferation, migration, and invasion in maxillary sinus squamous cell carcinoma by regulating miR-204/EphA7 axis.
Title: Long noncoding RNA KCNQ1OT1 promotes proliferation, migration, and invasion in maxillary sinus squamous cell carcinoma by regulating miR-204/EphA7 axis.
miR18a5p promotes melanoma cell proliferation and inhibits apoptosis and autophagy by targeting EPHA7 signaling.
Title: miR‑18a‑5p promotes melanoma cell proliferation and inhibits apoptosis and autophagy by targeting EPHA7 signaling.
MicroRNA-448/EPHA7 axis regulates cell proliferation, invasion and migration via regulation of PI3K/AKT signaling pathway and epithelial-to-mesenchymal transition in non-small cell lung cancer.
Title: MicroRNA-448/EPHA7 axis regulates cell proliferation, invasion and migration via regulation of PI3K/AKT signaling pathway and epithelial-to-mesenchymal transition in non-small cell lung cancer.
Down-regulation of HCP5 inhibits cell proliferation, migration, and invasion through regulating EPHA7 by competitively binding miR-101 in osteosarcoma.
Title: Down-regulation of HCP5 inhibits cell proliferation, migration, and invasion through regulating EPHA7 by competitively binding miR-101 in osteosarcoma.

Submit: New GeneRIF Correction See all GeneRIFs (36)

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
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. 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

D6S1942 (e-PCR)
- UniSTS:23300

RH118913 (e-PCR)
- UniSTS:138905

D6S1056 (e-PCR), detects polymorphism
- UniSTS:7110

D6S1293 (e-PCR)
- UniSTS:8914

EPHA7_329 (e-PCR)
- UniSTS:277209

RH103361 (e-PCR)
- UniSTS:88806

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 axon guidance receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables boss receptor activity	IEA Inferred from Electronic Annotation more info
enables brain-derived neurotrophic factor receptor activity	IEA Inferred from Electronic Annotation more info
enables chemorepellent activity	ISS Inferred from Sequence or Structural Similarity more info
enables epidermal growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables fibroblast growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables growth factor binding	IEA Inferred from Electronic Annotation more info
enables hepatocyte growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables insulin receptor activity	IEA Inferred from Electronic Annotation more info
enables insulin-like growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables macrophage colony-stimulating factor receptor activity	IEA Inferred from Electronic Annotation more info
enables placental growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor alpha-receptor activity	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor beta-receptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein tyrosine kinase collagen receptor activity	IEA Inferred from Electronic Annotation more info
enables stem cell factor receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane-ephrin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables vascular endothelial growth factor receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Kit signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in brain-derived neurotrophic factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in branching morphogenesis of a nerve	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in collagen-activated tyrosine kinase receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ephrin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in hepatocyte growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin-like growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in macrophage colony-stimulating factor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in negative chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in nephric duct morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet-derived growth factor receptor-alpha signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in platelet-derived growth factor receptor-beta signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cysteine-type endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein autophosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinal ganglion cell axon guidance	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor receptor-1 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
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

General protein information

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Preferred Names: ephrin type-A receptor 7

Names: EPH homology kinase 3; EPH-like kinase 11; Eph homology kinase-3; receptor protein-tyrosine kinase HEK11; tyrosine-protein kinase receptor EHK-3

NP_001275558.1

EC 2.7.10.1

NP_001275559.1

EC 2.7.10.1

NP_001363394.1

EC 2.7.10.1

NP_001363395.1

EC 2.7.10.1

NP_001363396.1

EC 2.7.10.1

NP_001363397.1

EC 2.7.10.1

NP_001363398.1

EC 2.7.10.1

NP_001363399.1

EC 2.7.10.1

NP_001363400.1

EC 2.7.10.1

NP_004431.1

EC 2.7.10.1

XP_016865855.1

EC 2.7.10.1

XP_047274230.1

EC 2.7.10.1

XP_054210424.1

EC 2.7.10.1

XP_054210425.1

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.

Genomic

NG_033944.1 RefSeqGene

Range

5024..184563

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001288629.2 → NP_001275558.1 ephrin type-A receptor 7 isoform 2 precursor

See identical proteins and their annotated locations for NP_001275558.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to isoform 1, and encodes a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AB209269, AL354857, AL591036, L36642

UniProtKB/TrEMBL

A0A7P0TBL4

Conserved Domains (5) summary

cd09548
Location:914 → 983

SAM_EPH-A7; SAM domain of EPH-A7 subfamily of tyrosine kinase receptors

cd10485
Location:30 → 206

EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7

cd00063
Location:443 → 534

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:623 → 889

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

pfam14575
Location:560 → 625

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
NM_001288630.2 → NP_001275559.1 ephrin type-A receptor 7 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL121966

Consensus CDS

CCDS75494.1

UniProtKB/Swiss-Prot

Q15375

Related

ENSP00000358303.1, ENST00000369297.1

Conserved Domains (1) summary

cd10485
Location:30 → 206

EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7
NM_001376465.1 → NP_001363394.1 ephrin type-A receptor 7 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL121966, AL354857, AL591036

Consensus CDS

CCDS93973.1

UniProtKB/TrEMBL

A0A7P0TBL4

Related

ENSP00000506130.1, ENST00000680224.1

Conserved Domains (5) summary

cd09548
Location:915 → 984

SAM_EPH-A7; SAM domain of EPH-A7 subfamily of tyrosine kinase receptors

cd10485
Location:30 → 206

EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7

cd00063
Location:443 → 534

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:624 → 890

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

pfam14575
Location:565 → 626

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
NM_001376466.1 → NP_001363395.1 ephrin type-A receptor 7 isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AL121966, AL354857, AL591036

UniProtKB/TrEMBL

A0A7P0TBL4

Related

ENSP00000506654.1, ENST00000680082.1

Conserved Domains (5) summary

cd09548
Location:910 → 979

SAM_EPH-A7; SAM domain of EPH-A7 subfamily of tyrosine kinase receptors

cd10485
Location:30 → 206

EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7

cd00063
Location:443 → 534

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:619 → 885

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

pfam14575
Location:560 → 621

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
NM_001376467.1 → NP_001363396.1 ephrin type-A receptor 7 isoform 6 precursor

Status: REVIEWED

Source sequence(s)

AL121966, AL354857, AL591036

UniProtKB/TrEMBL

A0A7P0TB85

Related

ENST00000680473.1

Conserved Domains (4) summary

cd10485
Location:30 → 206

EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7

cd00063
Location:443 → 534

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 ...

pfam07699
Location:275 → 312

Ephrin_rec_like; Putative ephrin-receptor like

pfam00041
Location:333 → 421

fn3; Fibronectin type III domain
NM_001376468.1 → NP_001363397.1 ephrin type-A receptor 7 isoform 7 precursor

Status: REVIEWED

Source sequence(s)

AL121966, AL354857, AL591036

Consensus CDS

CCDS93974.1

UniProtKB/TrEMBL

A0A7P0T9L5, A0A7P0TB85

Related

ENSP00000505741.1, ENST00000681532.1

Conserved Domains (4) summary

cd10485
Location:30 → 206

EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7

cd00063
Location:443 → 534

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 ...

pfam00041
Location:333 → 427

fn3; Fibronectin type III domain

pfam07699
Location:275 → 312

Ephrin_rec_like; Putative ephrin-receptor like
NM_001376469.1 → NP_001363398.1 ephrin type-A receptor 7 isoform 8 precursor

Status: REVIEWED

Source sequence(s)

AL121966, AL591036

Related

ENST00000681503.1

Conserved Domains (3) summary

cd10485
Location:30 → 206

EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7

cd00063
Location:332 → 438

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 ...

pfam07699
Location:275 → 312

Ephrin_rec_like; Putative ephrin-receptor like
NM_001376470.1 → NP_001363399.1 ephrin type-A receptor 7 isoform 9

Status: REVIEWED

Source sequence(s)

AL121966, AL354857, AL591036

Consensus CDS

CCDS93971.1

UniProtKB/TrEMBL

A0A7P0TA58, A0A7P0TBL4

Related

ENSP00000505937.1, ENST00000680190.1

Conserved Domains (5) summary

cd09548
Location:843 → 912

SAM_EPH-A7; SAM domain of EPH-A7 subfamily of tyrosine kinase receptors

cd00063
Location:367 → 458

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:552 → 818

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

pfam14575
Location:491 → 552

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl02704
Location:1 → 130

EphR_LBD; Ligand Binding Domain of Ephrin Receptors
NM_001376471.1 → NP_001363400.1 ephrin type-A receptor 7 isoform 10

Status: REVIEWED

Source sequence(s)

AL121966, AL354857, AL591036

Consensus CDS

CCDS93972.1

UniProtKB/TrEMBL

A0A7P0T9G1, A0A7P0TB85

Related

ENSP00000505682.1, ENST00000680953.1

Conserved Domains (3) summary

cd00063
Location:367 → 458

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 ...

pfam07699
Location:199 → 236

Ephrin_rec_like; Putative ephrin-receptor like

cl02704
Location:1 → 130

EphR_LBD; Ligand Binding Domain of Ephrin Receptors
NM_004440.4 → NP_004431.1 ephrin type-A receptor 7 isoform 1 precursor

See identical proteins and their annotated locations for NP_004431.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB209269, AL354857, AL591036, BC126125, DA503795, L36642

Consensus CDS

CCDS5031.1

UniProtKB/Swiss-Prot

A0AUX7, B2R8W1, B7ZLJ9, B7ZLK0, Q15375, Q59G40, Q5VTU0, Q8N368, Q9H124

UniProtKB/TrEMBL

A0A7P0TBL4

Related

ENSP00000358309.4, ENST00000369303.9

Conserved Domains (5) summary

cd09548
Location:919 → 988

SAM_EPH-A7; SAM domain of EPH-A7 subfamily of tyrosine kinase receptors

cd10485
Location:30 → 206

EphR_LBD_A7; Ligand Binding Domain of Ephrin type-A Receptor 7

cd00063
Location:443 → 534

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:628 → 894

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

pfam14575
Location:565 → 630

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain