FRS2 fibroblast growth factor receptor substrate 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FRS2provided by HGNC
Official Full Name: fibroblast growth factor receptor substrate 2provided by HGNC
Primary source: HGNC:HGNC:16971
See related: Ensembl:ENSG00000166225 MIM:607743; AllianceGenome:HGNC:16971
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SNT; SNT1; FRS1A; FRS2A; SNT-1; FRS2alpha
Summary: Enables fibroblast growth factor receptor binding activity and neurotrophin TRKA receptor binding activity. Involved in negative regulation of cardiac muscle cell differentiation. Acts upstream of or within fibroblast growth factor receptor signaling pathway. Located in adherens junction. Biomarker of renal cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q15

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (69470388..69579793)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (69449328..69558701)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (69864168..69973573)

Chromosome 12 - NC_000012.12 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
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?

FRS2 regulated by miR-429 and miR-206 promotes angiogenesis in osteosarcoma.
Title: FRS2 regulated by miR-429 and miR-206 promotes angiogenesis in osteosarcoma.
Over-expression of microRNA-145 Elevating Autophagy Activities via Downregulating FRS2 Expression.
Title: Over-expression of microRNA-145 Elevating Autophagy Activities via Downregulating FRS2 Expression.
Expression of fibroblast growth factor receptor substrate 2 (FRS2) in primary retroperitoneal liposarcoma and its clinical implications.
Title: Expression of fibroblast growth factor receptor substrate 2 (FRS2) in primary retroperitoneal liposarcoma and its clinical implications.
Hsa_circ_0093741 competes with FRS2 for miR-562 binding sites to promote nephroblastoma progression.
Title: Hsa_circ_0093741 competes with FRS2 for miR-562 binding sites to promote nephroblastoma progression.
Expression of FRS2 in atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma: an immunohistochemical analysis of 182 cases with genetic data.
Title: Expression of FRS2 in atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma: an immunohistochemical analysis of 182 cases with genetic data.
Circular RNA circUBR4 regulates ox-LDL-induced proliferation and migration of vascular smooth muscle cells through miR-185-5p/FRS2 axis.
Title: Circular RNA circUBR4 regulates ox-LDL-induced proliferation and migration of vascular smooth muscle cells through miR-185-5p/FRS2 axis.
Long non-coding RNA (lncRNA) nuclear enriched abundant transcript 1 (NEAT1) regulates fibroblast growth factor receptor substrate 2 (FRS2) by targeting microRNA (miR)-29-3p in hypertrophic scar fibroblasts.
Title: Long non-coding RNA (lncRNA) nuclear enriched abundant transcript 1 (NEAT1) regulates fibroblast growth factor receptor substrate 2 (FRS2) by targeting microRNA (miR)-29-3p in hypertrophic scar fibroblasts.
Upregulation of lncRNA ZFAS1 promotes lung adenocarcinoma progression by sponging miR-1271-5p and upregulating FRS2.
Title: Upregulation of lncRNA ZFAS1 promotes lung adenocarcinoma progression by sponging miR-1271-5p and upregulating FRS2.
LncRNA ANRIL regulates cell proliferation and migration via sponging miR-339-5p and regulating FRS2 expression in atherosclerosis.
Title: LncRNA ANRIL regulates cell proliferation and migration via sponging miR-339-5p and regulating FRS2 expression in atherosclerosis.
MiR-140-5p and miR-92a-3p suppress the cell proliferation, migration and invasion and promoted apoptosis in Wilms' tumor by targeting FRS2.
Title: MiR-140-5p and miR-92a-3p suppress the cell proliferation, migration and invasion and promoted apoptosis in Wilms' tumor by targeting FRS2.

Submit: New GeneRIF Correction See all GeneRIFs (42)

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
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 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

RH121882 (e-PCR)
- UniSTS:137736

SHGC-35867 (e-PCR)
- UniSTS:21809

WI-21627 (e-PCR)
- UniSTS:47960

D12S1703 (e-PCR)
- UniSTS:35936

WI-14856 (e-PCR)
- UniSTS:8553

RH134714 (e-PCR)
- UniSTS:217992

D12S885 (e-PCR)
- UniSTS:149898

SGC33268 (e-PCR)
- UniSTS:33958

D12S1680 (e-PCR), detects polymorphism
- UniSTS:183

G09517 (e-PCR)
- UniSTS:60861

RH47270 (e-PCR)
- UniSTS:90577

SHGC-36122 (e-PCR)
- UniSTS:78574

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables neurotrophin TRKA receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatase activator activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein tyrosine kinase adaptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in anterior/posterior axis specification, embryo	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine phosphatase signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in gastrulation with mouth forming second	IEA Inferred from Electronic Annotation more info
involved_in lens fiber cell development	IEA Inferred from Electronic Annotation more info
involved_in lens placode formation involved in camera-type eye formation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in organ induction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in ventricular septum development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: fibroblast growth factor receptor substrate 2

Names: FGFR signalling adaptor; FGFR substrate 2; FGFR-signaling adaptor SNT; epididymis secretory sperm binding protein; suc1-associated neurotrophic factor target 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_001042555.3 → NP_001036020.1 fibroblast growth factor receptor substrate 2

See identical proteins and their annotated locations for NP_001036020.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC018921, BC021562, BP363404, CD677411, DA311708

Consensus CDS

CCDS41809.1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
NM_001278351.2 → NP_001265280.1 fibroblast growth factor receptor substrate 2

See identical proteins and their annotated locations for NP_001265280.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript. All variants encode the same protein.

Source sequence(s)

AC018921, BC021562, CD677411, DA189114, DR003634

Consensus CDS

CCDS41809.1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
NM_001278353.2 → NP_001265282.1 fibroblast growth factor receptor substrate 2

See identical proteins and their annotated locations for NP_001265282.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) has multiple differences in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC018921, BC021562, BP230333, BU166503, CD677411, DA189114, DA311708

Consensus CDS

CCDS41809.1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
NM_001278354.2 → NP_001265283.1 fibroblast growth factor receptor substrate 2

See identical proteins and their annotated locations for NP_001265283.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an exon in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC018921, BC021562, CD677411, DA189114, DA721439, DR003634

Consensus CDS

CCDS41809.1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
NM_001278355.2 → NP_001265284.1 fibroblast growth factor receptor substrate 2

See identical proteins and their annotated locations for NP_001265284.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) has multiple differences in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC018921, AK312477, BP311537, CD677411, DA311708, DB081843

Consensus CDS

CCDS41809.1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
NM_001278356.2 → NP_001265285.1 fibroblast growth factor receptor substrate 2

See identical proteins and their annotated locations for NP_001265285.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks two exons in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC018921, AK312477, BP363404, CD677411, DA311708

Consensus CDS

CCDS41809.1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Related

ENSP00000450048.1, ENST00000549921.6

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
NM_001278357.2 → NP_001265286.1 fibroblast growth factor receptor substrate 2

See identical proteins and their annotated locations for NP_001265286.1

Status: VALIDATED

Description

Transcript Variant: This variant (8) lacks four exons in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC018921, AK312477, BC021562, CD677411, DA189114, DA311708

Consensus CDS

CCDS41809.1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Related

ENSP00000447241.1, ENST00000550389.5

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
NM_006654.5 → NP_006645.3 fibroblast growth factor receptor substrate 2

See identical proteins and their annotated locations for NP_006645.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an exon in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC018921, BC021562, BP230333, BP363404, CD677411, DA311708

Consensus CDS

CCDS41809.1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

69470388..69579793

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018718.2 → XP_016874207.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
XM_047428121.1 → XP_047284077.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_017018717.2 → XP_016874206.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain
XM_047428118.1 → XP_047284074.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_047428122.1 → XP_047284078.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_047428119.1 → XP_047284075.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_047428120.1 → XP_047284076.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_047428123.1 → XP_047284079.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_017018719.2 → XP_016874208.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

A0A384NQ31, L7RTG7

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

69449328..69558701

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370826.1 → XP_054226801.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_054370830.1 → XP_054226805.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_054370824.1 → XP_054226799.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_054370825.1 → XP_054226800.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_054370831.1 → XP_054226806.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_054370827.1 → XP_054226802.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_054370828.1 → XP_054226803.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_054370832.1 → XP_054226807.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7
XM_054370829.1 → XP_054226804.1 fibroblast growth factor receptor substrate 2 isoform X1

UniProtKB/Swiss-Prot

B0LPF2, B2R684, O43558, Q7LDQ6, Q8WU20

UniProtKB/TrEMBL

L7RTG7