SRF

Chr 6

serum response factor

SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5' of the site of transcription initiation of some genes (such as FOS). Together with MRTFA transcription coactivator, controls expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. Required for cardiac differentiation and maturation

Research

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

770

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.30LOEUF

pLI 0.975

Z-score 3.45

OE 0.06 (0.02–0.30)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.79Z-score

OE missense 0.51 (0.44–0.59)

131 obs / 256.8 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.06 (0.02–0.30)

0≤0.351.4

Missense OE?0.51 (0.44–0.59)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 1 / 15.8Missense obs/exp: 131 / 256.8Syn Z: 0.53

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

SRF · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Malignant Solid Neoplasm

Immune Checkpoint Inhibitor Toxicity Risk Prediction in Solid Tumors

RECRUITING

NCT04871542SWOG Cancer Research NetworkStarted 2021-09-13

Biospecimen CollectionQuestionnaire Administration

Intracranial MeningiomaRecurrent MeningiomaNF2 Gene Mutation

Vismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas

RECRUITING

NCT02523014Phase PHASE2Alliance for Clinical Trials in OncologyStarted 2015-09-28

VismodegibFAK Inhibitor GSK2256098Capivasertib

Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Adding the Immunotherapy Drug Cemiplimab to Usual Treatment for People With Advanced Non-Small Cell Lung Cancer Who Had Previous Treatment With Platinum Chemotherapy and Immunotherapy (An Expanded Lung-MAP Treatment Trial)

RECRUITING

NCT06616584Phase PHASE2, PHASE3SWOG Cancer Research NetworkStarted 2025-05-22

Biospecimen CollectionCemiplimabComputed Tomography

Acute Myeloid Leukemia

Venetoclax and HMA Treatment of Older and Unfit Adults With FLT3 Mutated Acute Myeloid Leukemia (AML) (A MyeloMATCH Treatment Trial)

RECRUITING

NCT06317649Phase PHASE2National Cancer Institute (NCI)Started 2024-09-27

AzacitidineBiospecimen CollectionBone Marrow Aspiration

Melanoma (Skin)

High-Dose Interferon Alfa in Treating Patients With Stage II or Stage III Melanoma

ACTIVE NOT RECRUITING

NCT00003641Phase PHASE3ECOG-ACRIN Cancer Research GroupStarted 1999-03-25

interferon alfa-2bobservation

Lung Non-Small Cell CarcinomaStage I Lung Cancer AJCC v8Stage II Lung Cancer AJCC v8

Testing the Addition of the Drug Atezolizumab to the Usual Radiation Treatment for Patients With Early Non-small Cell Lung Cancer

ACTIVE NOT RECRUITING

NCT04214262Phase PHASE3National Cancer Institute (NCI)Started 2020-08-13

AtezolizumabBiospecimen CollectionComputed Tomography

Breast Cancer

S1207 Hormone Therapy With or Without Everolimus in Treating Patients With Breast Cancer

ACTIVE NOT RECRUITING

NCT01674140Phase PHASE3SWOG Cancer Research NetworkStarted 2013-09-12

anastrozoleeverolimusexemestane

Neovascular Age-Related Macular Degeneration (nAMD)Wet AMD

Efficacy and Safety Study of Ixoberogene Soroparvovec (Ixo-vec) in Participants With Neovascular Age-Related Macular Degeneration

ACTIVE NOT RECRUITING

NCT06856577Phase PHASE3Adverum Biotechnologies, Inc.Started 2025-02-28

Ixo-vecAflibercept

Multiple Myeloma

S1803, Lenalidomide +/- Daratumumab/rHuPh20 as Post-ASCT Maintenance for MM w/MRD to Direct Therapy Duration

ACTIVE NOT RECRUITING

NCT04071457Phase PHASE3SWOG Cancer Research NetworkStarted 2019-08-13

LenalidomideDaratumumab/rHuPH20

ALK Gene RearrangementALK Gene TranslocationALK Positive

Crizotinib in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Removed by Surgery and ALK Fusion Mutations (An ALCHEMIST Treatment Trial)

ACTIVE NOT RECRUITING

NCT02201992Phase PHASE3ECOG-ACRIN Cancer Research GroupStarted 2015-03-23

Clinical ObservationCrizotinibLaboratory Biomarker Analysis

Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Comparing Combinations of Targeted Drugs for Advanced Non-Small Cell Lung Cancer That Has EGFR and MET Gene Changes (A Lung-MAP Treatment Trial)

RECRUITING

NCT05642572Phase PHASE2SWOG Cancer Research NetworkStarted 2023-05-05

Biospecimen CollectionCapmatinibComputed Tomography

Long-term Study of ADVM-022 in Neovascular (Wet) AMD [OPTIC-EXT]

ACTIVE NOT RECRUITING

NCT04645212Adverum Biotechnologies, Inc.Started 2020-12-14

ADVM-022