SRF

serum response factor, the group of MADS box family

Basic information

Region (hg38): 6:43171269-43181506

Links

ENSG00000112658 ∙ NCBI:6722 ∙ OMIM:600589 ∙ HGNC:11291 ∙ Uniprot:P11831 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRF gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	1	5
missense			13	4		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding						0
Total	0	0	13	8	1

Variants in SRF

This is a list of pathogenic ClinVar variants found in the SRF region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-43171682-C-T		not specified	Uncertain significance (Aug 12, 2024)
6-43171703-C-T		not specified	Uncertain significance (Dec 26, 2023)
6-43171717-A-T		not specified	Uncertain significance (Mar 14, 2025)
6-43171794-G-A			Likely benign (Dec 31, 2019)
6-43171803-G-T			Likely benign (Dec 31, 2019)
6-43171839-G-C			Likely benign (Jul 11, 2018)
6-43171981-A-G		not specified	Likely benign (Apr 07, 2023)
6-43172005-T-G		not specified	Likely benign (Apr 07, 2023)
6-43172040-C-T			Benign (Dec 31, 2019)
6-43172151-G-A			Likely benign (Dec 31, 2019)
6-43174048-A-T			Likely benign (Mar 01, 2018)
6-43174103-G-C		not specified	Uncertain significance (Dec 03, 2021)
6-43175699-G-T			Likely benign (Aug 18, 2018)
6-43175790-A-G		not specified	Uncertain significance (Oct 17, 2023)
6-43175817-C-T		not specified	Uncertain significance (Jul 12, 2023)
6-43175910-G-C		not specified	Uncertain significance (Jan 17, 2023)
6-43175926-G-A		not specified	Uncertain significance (Aug 28, 2024)
6-43175961-A-C		not specified	Uncertain significance (May 24, 2023)
6-43176622-C-T		not specified	Uncertain significance (Dec 07, 2023)
6-43178326-G-A		not specified	Uncertain significance (Dec 30, 2023)
6-43178355-G-A		not specified	Uncertain significance (Dec 03, 2024)
6-43178419-G-A		not specified	Uncertain significance (Jun 02, 2024)
6-43178493-G-C			Benign (Jun 05, 2018)
6-43178862-T-G			Uncertain significance (Nov 01, 2022)
6-43178873-G-T			Likely benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRF	protein_coding	protein_coding	ENST00000265354	7	10207

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.975	0.0245	125728	0	1	125729	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.79	131	257	0.510	0.0000137	3241
Missense in Polyphen		15	32.244	0.4652		331
Synonymous	0.529	108	115	0.937	0.00000722	1146
Loss of Function	3.45	1	15.8	0.0633	7.63e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: 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. {ECO:0000250|UniProtKB:Q9JM73}.
• Pathway: HTLV-I infection - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Heart Development;SRF and miRs in Smooth Muscle Differentiation and Proliferation;TarBasePathway;miR-targeted genes in muscle cell - TarBase;miRs in Muscle Cell Differentiation;Cell Differentiation - Index expanded;Cell Differentiation - Index;Mesodermal Commitment Pathway;MAPK Signaling Pathway;VEGFA-VEGFR2 Signaling Pathway;PDGFR-beta pathway;Insulin Signaling;Serotonin HTR1 Group and FOS Pathway;Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;Serotonin Receptor 4-6-7 and NR3C Signaling;Signal Transduction;hop pathway in cardiac development;igf-1 signaling pathway;RHO GTPases Activate Formins;pdgf signaling pathway;RHO GTPase Effectors;Signaling by Rho GTPases;Signaling events mediated by HDAC Class II;growth hormone signaling pathway;role of mal in rho-mediated activation of srf;ErbB1 downstream signaling;Coregulation of Androgen receptor activity;p38 signaling mediated by MAPKAP kinases;PDGFR-beta signaling pathway;Trk receptor signaling mediated by the MAPK pathway;PDGFR-alpha signaling pathway;RhoA signaling pathway (Consensus)

Recessive Scores

• pRec: 0.404

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.935
• hipred: Y
• hipred_score: 0.825
• ghis: 0.511

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Srf
• Phenotype: growth/size/body region phenotype; endocrine/exocrine gland phenotype; muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; skeleton phenotype; embryo phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); immune system phenotype

Gene ontology

• Biological process: branching involved in blood vessel morphogenesis;response to hypoxia;mesoderm formation;neuron migration;trophectodermal cell differentiation;heart looping;morphogenesis of an epithelial sheet;cell migration involved in sprouting angiogenesis;positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;transcription by RNA polymerase II;cell-matrix adhesion;multicellular organism development;heart development;long-term memory;negative regulation of cell population proliferation;associative learning;response to toxic substance;response to hormone;epithelial structure maintenance;positive regulation of transcription via serum response element binding;hippocampus development;tangential migration from the subventricular zone to the olfactory bulb;actin cytoskeleton organization;regulation of cell adhesion;platelet activation;platelet formation;negative regulation of cell migration;thyroid gland development;neuron projection development;regulation of water loss via skin;response to cytokine;megakaryocyte development;dorsal aorta morphogenesis;mRNA transcription by RNA polymerase II;stress fiber assembly;skin morphogenesis;positive thymic T cell selection;sarcomere organization;positive regulation of cell differentiation;positive regulation of axon extension;positive regulation of transcription by RNA polymerase II;positive regulation of smooth muscle contraction;positive regulation of transcription by glucose;muscle cell cellular homeostasis;thymus development;developmental growth;neuron development;erythrocyte development;positive regulation of DNA-binding transcription factor activity;regulation of smooth muscle cell differentiation;positive regulation of filopodium assembly;cardiac myofibril assembly;angiogenesis involved in wound healing;hematopoietic stem cell differentiation;positive regulation of transcription initiation from RNA polymerase II promoter;long-term synaptic depression;face development;heart trabecula formation;lung morphogenesis;bronchus cartilage development;trachea cartilage development;cardiac vascular smooth muscle cell differentiation;eyelid development in camera-type eye;lung smooth muscle development;bicellular tight junction assembly;cellular response to glucose stimulus;primitive streak formation;epithelial cell-cell adhesion;cellular senescence;negative regulation of amyloid-beta clearance;negative regulation of pri-miRNA transcription by RNA polymerase II;positive regulation of pri-miRNA transcription by RNA polymerase II
• Cellular component: nuclear chromatin;nucleus;nucleoplasm;cytoplasm
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;transcription factor binding;serum response element binding;chromatin DNA binding;protein homodimerization activity;histone deacetylase binding;sequence-specific DNA binding;transcription regulatory region DNA binding;RNA polymerase II-specific DNA-binding transcription factor binding;primary miRNA binding