SP4 (Sp4 transcription factor) - Rat Genome Database

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Gene: SP4 (Sp4 transcription factor) Homo sapiens
Analyze
Symbol: SP4
Name: Sp4 transcription factor
RGD ID: 731794
HGNC Page HGNC
Description: Enables identical protein binding activity and sequence-specific DNA binding activity. Acts upstream of or within with a positive effect on regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Implicated in congenital heart disease and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HF1B; MGC130008; MGC130009; SPR-1; transcription factor Sp4
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 Ensembl721,428,043 - 21,514,822 (+)EnsemblGRCh38hg38GRCh38
GRCh38721,428,083 - 21,514,822 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37721,467,701 - 21,554,440 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36721,434,214 - 21,520,687 (+)NCBINCBI36hg18NCBI36
Build 34721,240,928 - 21,324,574NCBI
Celera721,453,188 - 21,539,659 (+)NCBI
Cytogenetic Map7p15.3NCBI
HuRef721,352,913 - 21,439,390 (+)NCBIHuRef
CHM1_1721,468,431 - 21,554,847 (+)NCBICHM1_1
CRA_TCAGchr7v2721,519,001 - 21,605,471 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (ISA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1454515   PMID:7559627   PMID:7607696   PMID:7800480   PMID:10547281   PMID:10570957   PMID:11438531   PMID:11943774   PMID:12004059   PMID:12107411   PMID:12477932   PMID:12560508  
PMID:12853948   PMID:15345676   PMID:15781457   PMID:15788387   PMID:16201967   PMID:16574784   PMID:17356515   PMID:18593936   PMID:19274049   PMID:19401786   PMID:19656107   PMID:19934275  
PMID:20038947   PMID:20125088   PMID:20298200   PMID:20487506   PMID:20538607   PMID:20634195   PMID:21873635   PMID:21919647   PMID:22017217   PMID:22614877   PMID:23103227   PMID:23332764  
PMID:23540600   PMID:23941741   PMID:24722188   PMID:25175639   PMID:25416956   PMID:25915526   PMID:26049820   PMID:26431879   PMID:26450579   PMID:26871637   PMID:26967243   PMID:28081371  
PMID:28514442   PMID:29507755   PMID:32296183  


Genomics

Comparative Map Data
SP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl721,428,043 - 21,514,822 (+)EnsemblGRCh38hg38GRCh38
GRCh38721,428,083 - 21,514,822 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37721,467,701 - 21,554,440 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36721,434,214 - 21,520,687 (+)NCBINCBI36hg18NCBI36
Build 34721,240,928 - 21,324,574NCBI
Celera721,453,188 - 21,539,659 (+)NCBI
Cytogenetic Map7p15.3NCBI
HuRef721,352,913 - 21,439,390 (+)NCBIHuRef
CHM1_1721,468,431 - 21,554,847 (+)NCBICHM1_1
CRA_TCAGchr7v2721,519,001 - 21,605,471 (+)NCBI
Sp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912118,195,421 - 118,265,211 (-)NCBIGRCm39mm39
GRCm39 Ensembl12118,198,668 - 118,265,175 (-)Ensembl
GRCm3812118,231,686 - 118,301,440 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12118,234,933 - 118,301,440 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712119,473,406 - 119,539,913 (-)NCBIGRCm37mm9NCBIm37
MGSCv3612112,460,830 - 112,527,871 (-)NCBImm8
MGSCv3612118,679,035 - 118,745,471 (-)NCBImm8
Cytogenetic Map12F2NCBI
cM Map1263.48NCBI
Sp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26139,187,458 - 139,252,741 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl6139,192,147 - 139,252,126 (-)Ensembl
Rnor_6.06146,135,877 - 146,201,344 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6146,135,877 - 146,195,819 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06155,047,728 - 155,113,698 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46145,553,512 - 145,619,389 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16145,559,698 - 145,620,144 (-)NCBI
Celera6136,844,006 - 136,908,926 (-)NCBICelera
Cytogenetic Map6q33NCBI
Sp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541023,955,408 - 24,015,667 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541023,955,408 - 24,015,667 (+)NCBIChiLan1.0ChiLan1.0
SP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1721,425,584 - 21,512,238 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl721,421,259 - 21,512,238 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0722,113,013 - 22,200,012 (+)NCBIMhudiblu_PPA_v0panPan3
SP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11435,367,764 - 35,444,972 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1435,367,165 - 35,442,063 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1434,910,211 - 34,987,234 (+)NCBI
ROS_Cfam_1.01435,292,483 - 35,369,360 (+)NCBI
UMICH_Zoey_3.11435,411,963 - 35,488,712 (+)NCBI
UNSW_CanFamBas_1.01435,111,634 - 35,188,364 (+)NCBI
UU_Cfam_GSD_1.01435,445,222 - 35,521,966 (+)NCBI
Sp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511879,604,405 - 79,667,938 (+)NCBI
SpeTri2.0NW_0049365467,279,531 - 7,342,999 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl990,336,690 - 90,410,295 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1990,337,355 - 90,410,529 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2999,754,687 - 99,827,759 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12136,748,554 - 36,832,879 (-)NCBI
ChlSab1.1 Ensembl2136,747,896 - 36,831,953 (-)Ensembl
Vero_WHO_p1.0NW_02366604267,744,520 - 67,830,449 (+)NCBI
Sp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247399,170,131 - 9,235,615 (-)NCBI

Position Markers
D7S2562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,485,496 - 21,485,708UniSTSGRCh37
GRCh37721,485,719 - 21,485,808UniSTSGRCh37
Build 36721,452,021 - 21,452,233RGDNCBI36
Celera721,470,993 - 21,471,205RGD
Celera721,471,216 - 21,471,305UniSTS
Cytogenetic Map7p15.3UniSTS
HuRef721,370,948 - 21,371,037UniSTS
HuRef721,370,727 - 21,370,937UniSTS
CRA_TCAGchr7v2721,537,029 - 21,537,118UniSTS
CRA_TCAGchr7v2721,536,806 - 21,537,018UniSTS
Marshfield Genetic Map734.15RGD
Marshfield Genetic Map734.15UniSTS
Genethon Genetic Map734.5UniSTS
deCODE Assembly Map736.52UniSTS
RH46964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,533,348 - 21,533,545UniSTSGRCh37
Build 36721,499,873 - 21,500,070RGDNCBI36
Celera721,518,845 - 21,519,042RGD
Cytogenetic Map7p15.3UniSTS
HuRef721,418,577 - 21,418,774UniSTS
CRA_TCAGchr7v2721,584,658 - 21,584,855UniSTS
GeneMap99-GB4 RH Map794.35UniSTS
NCBI RH Map7373.4UniSTS
GDB:1318416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,525,237 - 21,525,315UniSTSGRCh37
Build 36721,491,762 - 21,491,840RGDNCBI36
Celera721,510,734 - 21,510,812RGD
Cytogenetic Map7p15.3UniSTS
HuRef721,410,466 - 21,410,544UniSTS
CRA_TCAGchr7v2721,576,547 - 21,576,625UniSTS
SHGC-55987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,550,937 - 21,551,043UniSTSGRCh37
Build 36721,517,462 - 21,517,568RGDNCBI36
Celera721,536,434 - 21,536,540RGD
Cytogenetic Map7p15.3UniSTS
HuRef721,436,165 - 21,436,271UniSTS
CRA_TCAGchr7v2721,602,246 - 21,602,352UniSTS
GeneMap99-GB4 RH Map794.46UniSTS
Whitehead-RH Map763.3UniSTS
Whitehead-YAC Contig Map7 UniSTS
G60354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,485,504 - 21,485,808UniSTSGRCh37
Build 36721,452,029 - 21,452,333RGDNCBI36
Celera721,471,001 - 21,471,305RGD
Cytogenetic Map7p15.3UniSTS
HuRef721,370,735 - 21,371,037UniSTS
CRA_TCAGchr7v2721,536,814 - 21,537,118UniSTS
TNG Radiation Hybrid Map79657.0UniSTS
TNG Radiation Hybrid Map1639179.0UniSTS
G01876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,496,320 - 21,496,521UniSTSGRCh37
GRCh374117,440,915 - 117,441,091UniSTSGRCh37
Build 364117,660,363 - 117,660,539RGDNCBI36
Celera4114,732,907 - 114,733,083RGD
Celera721,481,817 - 21,482,018UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map4q26UniSTS
HuRef721,381,549 - 21,381,750UniSTS
HuRef4113,175,073 - 113,175,249UniSTS
CRA_TCAGchr7v2721,547,630 - 21,547,831UniSTS
SP4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,468,934 - 21,469,196UniSTSGRCh37
Build 36721,435,459 - 21,435,721RGDNCBI36
Celera721,454,431 - 21,454,693RGD
Cytogenetic Map7p15.3UniSTS
HuRef721,354,165 - 21,354,427UniSTS
CRA_TCAGchr7v2721,520,244 - 21,520,506UniSTS
GDB:1317532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,486,326 - 21,486,487UniSTSGRCh37
Build 36721,452,851 - 21,453,012RGDNCBI36
Celera721,471,823 - 21,471,984RGD
Cytogenetic Map7p15.3UniSTS
HuRef721,371,555 - 21,371,716UniSTS
CRA_TCAGchr7v2721,537,636 - 21,537,797UniSTS
SP4_3465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37721,550,664 - 21,551,531UniSTSGRCh37
Build 36721,517,189 - 21,518,056RGDNCBI36
Celera721,536,161 - 21,537,028RGD
HuRef721,435,892 - 21,436,759UniSTS
CRA_TCAGchr7v2721,601,973 - 21,602,840UniSTS
D7S2562  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p15.3UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR27Ahsa-miR-27a-3pMirtarbaseexternal_infoWestern blotFunctional MTI18006846
MIR27Ahsa-miR-27a-3pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI20382698

Predicted Target Of
Summary Value
Count of predictions:2517
Count of miRNA genes:825
Interacting mature miRNAs:977
Transcripts:ENST00000222584, ENST00000432066, ENST00000440636, ENST00000448246
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 50 22 99 7 605 8 245 34 318 41 210 203 2 2 45
Low 2386 2743 1592 584 1201 424 4107 2085 3407 372 1250 1410 173 1 1202 2740 5 2
Below cutoff 3 226 35 33 145 33 4 78 9 6 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001326542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001326543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_137166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF438799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF516188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ639622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222584   ⟹   ENSP00000222584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl721,428,083 - 21,514,822 (+)Ensembl
RefSeq Acc Id: ENST00000432066   ⟹   ENSP00000393623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl721,428,043 - 21,477,239 (+)Ensembl
RefSeq Acc Id: ENST00000440636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl721,428,195 - 21,428,900 (+)Ensembl
RefSeq Acc Id: ENST00000448246   ⟹   ENSP00000390817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl721,428,044 - 21,514,554 (+)Ensembl
RefSeq Acc Id: ENST00000649633   ⟹   ENSP00000496957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl721,428,201 - 21,514,505 (+)Ensembl
RefSeq Acc Id: NM_001326542   ⟹   NP_001313471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,083 - 21,514,822 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001326543   ⟹   NP_001313472
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,083 - 21,514,822 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003112   ⟹   NP_003103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,083 - 21,514,822 (+)NCBI
GRCh37721,467,689 - 21,554,440 (+)NCBI
Build 36721,434,214 - 21,520,687 (+)NCBI Archive
HuRef721,352,913 - 21,439,390 (+)ENTREZGENE
CHM1_1721,468,431 - 21,554,847 (+)NCBI
CRA_TCAGchr7v2721,519,001 - 21,605,471 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_137166
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,083 - 21,428,903 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005249829   ⟹   XP_005249886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,100 - 21,487,738 (+)NCBI
GRCh37721,467,689 - 21,554,440 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515486   ⟹   XP_011513788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,100 - 21,482,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515487   ⟹   XP_011513789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,100 - 21,477,117 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017012557   ⟹   XP_016868046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,100 - 21,481,906 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003103   ⟸   NM_003112
- Peptide Label: isoform 1
- UniProtKB: Q02446 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005249886   ⟸   XM_005249829
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011513788   ⟸   XM_011515486
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513789   ⟸   XM_011515487
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016868046   ⟸   XM_017012557
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001313472   ⟸   NM_001326543
- Peptide Label: isoform 3
- UniProtKB: Q02446 (UniProtKB/Swiss-Prot),   Q32M51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001313471   ⟸   NM_001326542
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000496957   ⟸   ENST00000649633
RefSeq Acc Id: ENSP00000393623   ⟸   ENST00000432066
RefSeq Acc Id: ENSP00000222584   ⟸   ENST00000222584
RefSeq Acc Id: ENSP00000390817   ⟸   ENST00000448246
Protein Domains
C2H2-type

Promoters
RGD ID:7210057
Promoter ID:EPDNEW_H10773
Type:initiation region
Name:SP4_1
Description:Sp4 transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38721,428,100 - 21,428,160EPDNEW
RGD ID:6806218
Promoter ID:HG_KWN:56491
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000211617,   OTTHUMT00000326588,   OTTHUMT00000326589,   OTTHUMT00000326783,   UC003SVB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36721,433,231 - 21,434,312 (+)MPROMDB
RGD ID:6813299
Promoter ID:HG_ACW:71569
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SP4.DAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36721,436,131 - 21,436,631 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] Chr7:8274775..21988311 [GRCh38]
Chr7:8314405..22027929 [GRCh37]
Chr7:8280930..21994454 [NCBI36]
Chr7:7p21.3-15.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 copy number gain See cases [RCV000053531] Chr7:16234212..26167278 [GRCh38]
Chr7:16273837..26206898 [GRCh37]
Chr7:16240362..26173423 [NCBI36]
Chr7:7p21.2-15.2
pathogenic
NM_003112.3(SP4):c.1882C>T (p.Pro628Ser) single nucleotide variant Malignant melanoma [RCV000061609] Chr7:21477282 [GRCh38]
Chr7:21516900 [GRCh37]
Chr7:21483425 [NCBI36]
Chr7:7p15.3
not provided
NM_003112.3(SP4):c.1883C>T (p.Pro628Leu) single nucleotide variant Malignant melanoma [RCV000061610] Chr7:21477283 [GRCh38]
Chr7:21516901 [GRCh37]
Chr7:21483426 [NCBI36]
Chr7:7p15.3
not provided
NM_003112.3(SP4):c.2107+8854C>G single nucleotide variant Lung cancer [RCV000105950] Chr7:21490977 [GRCh38]
Chr7:21530595 [GRCh37]
Chr7:7p15.3
uncertain significance
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 copy number loss See cases [RCV000134333] Chr7:20210912..27849400 [GRCh38]
Chr7:20250535..27889019 [GRCh37]
Chr7:20217060..27855544 [NCBI36]
Chr7:7p21.1-15.2
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1 copy number loss See cases [RCV000136842] Chr7:19145712..22193713 [GRCh38]
Chr7:19185335..22233331 [GRCh37]
Chr7:19151860..22199856 [NCBI36]
Chr7:7p21.1-15.3
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 copy number loss See cases [RCV000137924] Chr7:15533812..24851432 [GRCh38]
Chr7:15573437..24891051 [GRCh37]
Chr7:15539962..24857576 [NCBI36]
Chr7:7p21.2-15.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_003112.5(SP4):c.2068C>T (p.Arg690Trp) single nucleotide variant Monoclonal B-Cell Lymphocytosis [RCV000208557] Chr7:21482084 [GRCh38]
Chr7:21521702 [GRCh37]
Chr7:7p15.3
uncertain significance
GRCh37/hg19 7p15.3(chr7:21483605-21589243)x3 copy number gain Premature ovarian failure [RCV000225352] Chr7:21483605..21589243 [GRCh37]
Chr7:7p15.3
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p15.3(chr7:21538066-21596876)x1 copy number loss not provided [RCV000682765] Chr7:21538066..21596876 [GRCh37]
Chr7:7p15.3
uncertain significance
GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3 copy number gain not provided [RCV000682908] Chr7:14544155..21719929 [GRCh37]
Chr7:7p21.2-15.3
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_003112.5(SP4):c.721C>G (p.Leu241Val) single nucleotide variant not provided [RCV000949310] Chr7:21429886 [GRCh38]
Chr7:21469504 [GRCh37]
Chr7:7p15.3
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p15.3(chr7:21551586-21690078)x3 copy number gain not provided [RCV000848448] Chr7:21551586..21690078 [GRCh37]
Chr7:7p15.3
uncertain significance
GRCh37/hg19 7p15.3(chr7:21483799-21542891)x1 copy number loss not provided [RCV001005923] Chr7:21483799..21542891 [GRCh37]
Chr7:7p15.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11209 AgrOrtholog
COSMIC SP4 COSMIC
Ensembl Genes ENSG00000105866 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000222584 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390817 UniProtKB/TrEMBL
  ENSP00000393623 UniProtKB/TrEMBL
  ENSP00000496957 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222584 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432066 UniProtKB/TrEMBL
  ENST00000448246 UniProtKB/TrEMBL
  ENST00000649633 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000105866 GTEx
HGNC ID HGNC:11209 ENTREZGENE
Human Proteome Map SP4 Human Proteome Map
InterPro SP4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6671 UniProtKB/Swiss-Prot
NCBI Gene 6671 ENTREZGENE
OMIM 600540 OMIM
PANTHER PTHR23235:SF17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36046 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRW4_HUMAN UniProtKB/TrEMBL
  C9JUS7_HUMAN UniProtKB/TrEMBL
  F8WB93_HUMAN UniProtKB/TrEMBL
  L0R552_HUMAN UniProtKB/TrEMBL
  Q02446 ENTREZGENE
  Q32M51 ENTREZGENE, UniProtKB/TrEMBL
  SP4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O60402 UniProtKB/Swiss-Prot
  Q32M52 UniProtKB/Swiss-Prot