SRF (serum response factor) - Rat Genome Database

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Gene: SRF (serum response factor) Homo sapiens
Analyze
Symbol: SRF
Name: serum response factor
RGD ID: 1321393
HGNC Page HGNC
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; protein homodimerization activity; and serum response element binding activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; negative regulation of amyloid-beta clearance; and regulation of transcription, DNA-templated. Acts upstream of or within positive regulation of cell differentiation; positive regulation of transcription by RNA polymerase II; and trophectodermal cell differentiation. Located in nucleus. Implicated in cardiomyopathy and lymphangioleiomyomatosis. Biomarker of congestive heart failure and lymphangioleiomyomatosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: c-fos serum response element-binding transcription factor; MCM1; minichromosome maintenance 1 homolog; serum response factor (c-fos serum response element-binding transcription factor)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl643,171,269 - 43,181,506 (+)EnsemblGRCh38hg38GRCh38
GRCh38643,171,269 - 43,181,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37643,139,007 - 43,149,244 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,246,898 - 43,257,222 (+)NCBINCBI36hg18NCBI36
Build 34643,247,014 - 43,257,221NCBI
Celera644,691,142 - 44,701,465 (+)NCBI
Cytogenetic Map6p21.1NCBI
HuRef642,855,575 - 42,865,934 (+)NCBIHuRef
CHM1_1643,141,808 - 43,152,132 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (ISO,ISS)
actin filament organization  (ISO)
angiogenesis involved in wound healing  (TAS)
associative learning  (IEA,ISO)
bicellular tight junction assembly  (IEA,ISO)
branching involved in blood vessel morphogenesis  (IEA,ISO)
bronchus cartilage development  (IEA,ISO)
cardiac myofibril assembly  (IEA,ISO)
cardiac vascular smooth muscle cell differentiation  (IEA,ISO)
cell migration involved in sprouting angiogenesis  (IMP,ISO)
cell-cell adhesion  (ISO)
cell-matrix adhesion  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular senescence  (IMP)
contractile actin filament bundle assembly  (ISO)
developmental growth  (IEA,ISO)
dorsal aorta morphogenesis  (IEA,ISO)
epithelial cell-cell adhesion  (IEA,ISO)
epithelial structure maintenance  (IEA,ISO)
erythrocyte development  (IEA,ISO)
eyelid development in camera-type eye  (IEA,ISO)
face development  (IEA,ISO)
forebrain development  (ISO)
gastrulation  (ISO)
heart development  (ISO,ISS)
heart looping  (ISO,ISS)
heart trabecula formation  (IEA,ISO)
hematopoietic stem cell differentiation  (IEA,ISO)
hippocampus development  (IEA,ISO)
in utero embryonic development  (ISO)
leukocyte differentiation  (ISO)
long-term memory  (IEA,ISO)
long-term synaptic depression  (IEA,ISO)
lung morphogenesis  (IEA,ISO)
lung smooth muscle development  (IEA,ISO)
megakaryocyte development  (IEA,ISO)
mesoderm formation  (IEA,ISO)
morphogenesis of an epithelial sheet  (IEA,ISO)
muscle cell cellular homeostasis  (ISO,ISS)
negative regulation of amyloid-beta clearance  (IMP)
negative regulation of cell migration  (IEA,ISO)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of pri-miRNA transcription by RNA polymerase II  (ISS)
neuron development  (TAS)
neuron migration  (IEA,ISO)
neuron projection development  (IEA,ISO)
platelet activation  (IEA,ISO)
platelet formation  (IEA,ISO)
positive regulation of axon extension  (IEA,ISO)
positive regulation of cell differentiation  (IDA)
positive regulation of DNA-binding transcription factor activity  (IDA,IMP)
positive regulation of filopodium assembly  (IEA,ISO)
positive regulation of pri-miRNA transcription by RNA polymerase II  (IGI,ISS)
positive regulation of smooth muscle contraction  (IDA)
positive regulation of transcription by glucose  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,ISS)
positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation  (IGI)
positive regulation of transcription initiation from RNA polymerase II promoter  (IDA)
positive regulation of transcription via serum response element binding  (IEA)
positive regulation of transcription, DNA-templated  (ISO)
positive thymic T cell selection  (IEA,ISO)
primitive streak formation  (IEA,ISO)
regulation of cell adhesion  (IEA,ISO)
regulation of smooth muscle cell differentiation  (TAS)
regulation of transcription by RNA polymerase II  (IBA)
regulation of transcription, DNA-templated  (ISO)
regulation of water loss via skin  (IEA,ISO)
response to cytokine  (IMP,NAS)
response to hormone  (IDA)
response to hypoxia  (IEP)
response to toxic substance  (TAS)
sarcomere organization  (IEA,ISO)
skin morphogenesis  (IEA,ISO)
stress fiber assembly  (IEA,ISO)
tangential migration from the subventricular zone to the olfactory bulb  (IEA,ISO)
thymus development  (IEA,ISO)
thyroid gland development  (IEA,ISO)
trachea cartilage development  (IEA,ISO)
trophectodermal cell differentiation  (IDA)

Cellular Component
chromatin  (IEA)
cytoplasm  (TAS)
nucleoplasm  (TAS)
nucleus  (IDA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1509260   PMID:1512232   PMID:1547771   PMID:1740119   PMID:2046671   PMID:2108863   PMID:3203386   PMID:7540136   PMID:7551568   PMID:7624133   PMID:7637780   PMID:7744019  
PMID:7796532   PMID:7854423   PMID:8024585   PMID:8083237   PMID:8106390   PMID:8375385   PMID:8407951   PMID:8413226   PMID:8604338   PMID:8617811   PMID:8670842   PMID:8887666  
PMID:9010223   PMID:9032301   PMID:9271374   PMID:9334314   PMID:9388250   PMID:9545312   PMID:9584171   PMID:9786846   PMID:10082523   PMID:10318842   PMID:10318869   PMID:10336466  
PMID:10556093   PMID:10571058   PMID:10606656   PMID:10753652   PMID:10777532   PMID:10847592   PMID:10993896   PMID:11003651   PMID:11104785   PMID:11136726   PMID:11158291   PMID:11181183  
PMID:11278942   PMID:11359793   PMID:11387340   PMID:11406578   PMID:11439182   PMID:11457859   PMID:11500490   PMID:11641790   PMID:11846562   PMID:11859076   PMID:12061776   PMID:12077347  
PMID:12082086   PMID:12171911   PMID:12200418   PMID:12242287   PMID:12270917   PMID:12297045   PMID:12397177   PMID:12477932   PMID:12530967   PMID:12622724   PMID:12660819   PMID:12663674  
PMID:12788062   PMID:12788374   PMID:12853125   PMID:14565952   PMID:15014501   PMID:15180964   PMID:15207639   PMID:15282327   PMID:15326221   PMID:15456770   PMID:15489334   PMID:15492011  
PMID:15542842   PMID:15576363   PMID:15591049   PMID:15610731   PMID:15802564   PMID:15806162   PMID:15857835   PMID:15862967   PMID:16054032   PMID:16151017   PMID:16690609   PMID:17081983  
PMID:17122890   PMID:17158926   PMID:17200232   PMID:17215356   PMID:17360478   PMID:17376895   PMID:17468179   PMID:17576768   PMID:17599918   PMID:17629633   PMID:17670796   PMID:17975004  
PMID:18029348   PMID:18078809   PMID:18296735   PMID:18497331   PMID:18501668   PMID:18694962   PMID:18780286   PMID:19079548   PMID:19098903   PMID:19151320   PMID:19151755   PMID:19198601  
PMID:19274049   PMID:19329434   PMID:19342595   PMID:19350017   PMID:19359245   PMID:19513551   PMID:19578358   PMID:19687146   PMID:19724058   PMID:19783823   PMID:19801679   PMID:19913121  
PMID:19953255   PMID:20096952   PMID:20144681   PMID:20147408   PMID:20379614   PMID:20628086   PMID:20685657   PMID:20724380   PMID:20808827   PMID:20811705   PMID:21131446   PMID:21393865  
PMID:21410985   PMID:21479245   PMID:21777672   PMID:21842128   PMID:21873635   PMID:21893058   PMID:21965288   PMID:21988832   PMID:21998125   PMID:22049076   PMID:22157009   PMID:22192413  
PMID:22356487   PMID:22537405   PMID:23134219   PMID:23152437   PMID:23382706   PMID:23382855   PMID:23454662   PMID:23469924   PMID:23576568   PMID:23764775   PMID:24088304   PMID:24173109  
PMID:24249383   PMID:24627437   PMID:25009298   PMID:25080937   PMID:25298399   PMID:25402621   PMID:25681733   PMID:25728840   PMID:25896507   PMID:26100622   PMID:26321231   PMID:26554816  
PMID:26671411   PMID:26760575   PMID:26801758   PMID:26823487   PMID:26885614   PMID:27323859   PMID:27350449   PMID:27911586   PMID:28069441   PMID:28112683   PMID:28161397   PMID:28248815  
PMID:28249598   PMID:28251884   PMID:28473536   PMID:28611215   PMID:28900514   PMID:29321169   PMID:29400712   PMID:29931229   PMID:29940177   PMID:30365040   PMID:30371874   PMID:30500416  
PMID:31478943   PMID:31815603   PMID:32119877   PMID:32187044   PMID:32330601   PMID:32380971   PMID:32885587   PMID:33021523   PMID:33226137   PMID:33837725   PMID:34067464   PMID:34204945  


Genomics

Comparative Map Data
SRF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl643,171,269 - 43,181,506 (+)EnsemblGRCh38hg38GRCh38
GRCh38643,171,269 - 43,181,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37643,139,007 - 43,149,244 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,246,898 - 43,257,222 (+)NCBINCBI36hg18NCBI36
Build 34643,247,014 - 43,257,221NCBI
Celera644,691,142 - 44,701,465 (+)NCBI
Cytogenetic Map6p21.1NCBI
HuRef642,855,575 - 42,865,934 (+)NCBIHuRef
CHM1_1643,141,808 - 43,152,132 (+)NCBICHM1_1
Srf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391746,857,764 - 46,869,194 (-)NCBIGRCm39mm39
GRCm39 Ensembl1746,859,255 - 46,867,101 (-)Ensembl
GRCm381746,546,838 - 46,558,267 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1746,548,329 - 46,556,175 (-)EnsemblGRCm38mm10GRCm38
MGSCv371746,683,788 - 46,693,111 (-)NCBIGRCm37mm9NCBIm37
MGSCv361746,010,028 - 46,019,351 (-)NCBImm8
Celera1749,982,837 - 49,992,041 (-)NCBICelera
Cytogenetic Map17CNCBI
Srf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2914,426,453 - 14,435,734 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl914,426,472 - 14,435,733 (+)Ensembl
Rnor_6.0916,737,637 - 16,747,226 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl916,737,642 - 16,747,225 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0915,642,584 - 15,652,178 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.499,788,378 - 9,797,639 (+)NCBIRGSC3.4rn4RGSC3.4
Celera912,173,971 - 12,183,234 (+)NCBICelera
Cytogenetic Map9q12NCBI
Srf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554379,098,968 - 9,107,057 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554379,100,546 - 9,109,305 (+)NCBIChiLan1.0ChiLan1.0
SRF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1644,057,192 - 44,066,768 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl644,057,192 - 44,066,768 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0642,763,099 - 42,773,332 (+)NCBIMhudiblu_PPA_v0panPan3
SRF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11211,664,441 - 11,673,846 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1211,664,527 - 11,671,533 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1211,691,502 - 11,700,834 (+)NCBI
ROS_Cfam_1.01212,146,868 - 12,156,424 (+)NCBI
UMICH_Zoey_3.11211,674,421 - 11,683,753 (+)NCBI
UNSW_CanFamBas_1.01211,758,840 - 11,768,172 (+)NCBI
UU_Cfam_GSD_1.01211,853,634 - 11,862,966 (+)NCBI
Srf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494647,170,709 - 47,180,262 (+)NCBI
SpeTri2.0NW_00493647616,779,941 - 16,789,499 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl738,213,063 - 38,222,140 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1738,213,300 - 38,223,686 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2743,712,387 - 43,724,048 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SRF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11728,983,161 - 28,993,465 (-)NCBI
ChlSab1.1 Ensembl1728,983,002 - 28,992,995 (-)Ensembl
Vero_WHO_p1.0NW_02366604443,231,123 - 43,241,353 (+)NCBI
Srf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475416,371,995 - 16,381,287 (-)NCBI

Position Markers
RH46608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,148,972 - 43,149,160UniSTSGRCh37
Build 36643,256,950 - 43,257,138RGDNCBI36
Celera644,701,193 - 44,701,381RGD
Cytogenetic Map6p21.1UniSTS
HuRef642,865,662 - 42,865,850UniSTS
GeneMap99-GB4 RH Map6152.25UniSTS
D6S2165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,149,028 - 43,149,160UniSTSGRCh37
Build 36643,257,006 - 43,257,138RGDNCBI36
Celera644,701,249 - 44,701,381RGD
Cytogenetic Map6p21.1UniSTS
HuRef642,865,718 - 42,865,850UniSTS
Stanford-G3 RH Map62361.0UniSTS
NCBI RH Map6645.2UniSTS
GeneMap99-G3 RH Map62493.0UniSTS
SRF_3467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,146,987 - 43,147,718UniSTSGRCh37
Build 36643,254,965 - 43,255,696RGDNCBI36
Celera644,699,208 - 44,699,939RGD
HuRef642,863,677 - 42,864,408UniSTS
D1S3694  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map7q36.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoWestern blotNon-Functional MTI20458751
MIR1-1hsa-miR-1Tarbaseexternal_infoWesternblitNEGATIVE

Predicted Target Of
Summary Value
Count of predictions:2010
Count of miRNA genes:866
Interacting mature miRNAs:1064
Transcripts:ENST00000265354, ENST00000457278
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2429 2748 1609 510 1753 352 4355 2147 3175 386 1444 1606 171 1204 2788 3
Low 10 243 117 114 198 113 1 50 557 33 16 7 4 1 3 2
Below cutoff 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000265354   ⟹   ENSP00000265354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,171,269 - 43,181,506 (+)Ensembl
RefSeq Acc Id: NM_001292001   ⟹   NP_001278930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,172,396 - 43,181,506 (+)NCBI
CHM1_1643,143,016 - 43,152,132 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003131   ⟹   NP_003122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,171,269 - 43,181,506 (+)NCBI
GRCh37643,138,920 - 43,149,244 (+)ENTREZGENE
Build 36643,246,898 - 43,257,222 (+)NCBI Archive
HuRef642,855,575 - 42,865,934 (+)ENTREZGENE
CHM1_1643,141,921 - 43,152,132 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003122   ⟸   NM_003131
- Peptide Label: isoform 1
- UniProtKB: P11831 (UniProtKB/Swiss-Prot),   A0A024RD16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278930   ⟸   NM_001292001
- Peptide Label: isoform 2
- UniProtKB: P11831 (UniProtKB/Swiss-Prot),   B4DU24 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000265354   ⟸   ENST00000265354
Protein Domains
MADS-box

Promoters
RGD ID:7208117
Promoter ID:EPDNEW_H9805
Type:initiation region
Name:SRF_1
Description:serum response factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9806  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,171,269 - 43,171,329EPDNEW
RGD ID:7208121
Promoter ID:EPDNEW_H9806
Type:initiation region
Name:SRF_2
Description:serum response factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9805  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,171,455 - 43,171,515EPDNEW
RGD ID:6804818
Promoter ID:HG_KWN:53621
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003131
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,246,671 - 43,247,862 (+)MPROMDB
RGD ID:6812976
Promoter ID:HG_ACW:68498
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:GLUGLARBY.AAPR07-UNSPLICED,   SRF.CAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,249,021 - 43,249,521 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 copy number loss See cases [RCV000051011] Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.1(chr6:42133625-44106194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|See cases [RCV000051899] Chr6:42133625..44106194 [GRCh38]
Chr6:42101363..44073931 [GRCh37]
Chr6:42209341..44181909 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1
pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_003131.4(SRF):c.147G>T (p.Ala49=) single nucleotide variant not provided [RCV000951082] Chr6:43171803 [GRCh38]
Chr6:43139541 [GRCh37]
Chr6:6p21.1
likely benign
NM_003131.4(SRF):c.384C>T (p.Ser128=) single nucleotide variant not provided [RCV000899598] Chr6:43172040 [GRCh38]
Chr6:43139778 [GRCh37]
Chr6:6p21.1
benign
NM_003131.4(SRF):c.1354+8G>C single nucleotide variant not provided [RCV000880122] Chr6:43178493 [GRCh38]
Chr6:43146231 [GRCh37]
Chr6:6p21.1
benign
NM_003131.4(SRF):c.183G>C (p.Ala61=) single nucleotide variant not provided [RCV000937493] Chr6:43171839 [GRCh38]
Chr6:43139577 [GRCh37]
Chr6:6p21.1
likely benign
NM_003131.4(SRF):c.781-7G>T single nucleotide variant not provided [RCV000943443] Chr6:43175699 [GRCh38]
Chr6:43143437 [GRCh37]
Chr6:6p21.1
likely benign
NM_003131.4(SRF):c.715A>T (p.Thr239Ser) single nucleotide variant not provided [RCV000895873] Chr6:43174048 [GRCh38]
Chr6:43141786 [GRCh37]
Chr6:6p21.1
likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_003131.4(SRF):c.138G>A (p.Gly46=) single nucleotide variant not provided [RCV000952906] Chr6:43171794 [GRCh38]
Chr6:43139532 [GRCh37]
Chr6:6p21.1
likely benign
NM_003131.4(SRF):c.1422G>T (p.Gln474His) single nucleotide variant not provided [RCV000895294] Chr6:43178873 [GRCh38]
Chr6:43146611 [GRCh37]
Chr6:6p21.1
likely benign
NM_003131.4(SRF):c.495G>A (p.Lys165=) single nucleotide variant not provided [RCV000913428] Chr6:43172151 [GRCh38]
Chr6:43139889 [GRCh37]
Chr6:6p21.1
likely benign
NC_000006.11:g.(?_42928506)_(43737486_?)del deletion not provided [RCV001384708] Chr6:42928506..43737486 [GRCh37]
Chr6:6p21.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11291 AgrOrtholog
COSMIC SRF COSMIC
Ensembl Genes ENSG00000112658 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000265354 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265354 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.1810.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112658 GTEx
HGNC ID HGNC:11291 ENTREZGENE
Human Proteome Map SRF Human Proteome Map
InterPro MADS_SRF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_MADSbox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_MADSbox_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6722 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6722 ENTREZGENE
OMIM 600589 OMIM
Pfam SRF-TF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36116 PharmGKB
PRINTS MADSDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MADS_BOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MADS_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MADS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55455 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RD16 ENTREZGENE, UniProtKB/TrEMBL
  B4DU24 ENTREZGENE, UniProtKB/TrEMBL
  P11831 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5T648 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-09-08 SRF  serum response factor  SRF  serum response factor (c-fos serum response element-binding transcription factor)  Symbol and/or name change 5135510 APPROVED