GRHL2 (grainyhead like transcription factor 2) - Rat Genome Database

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Gene: GRHL2 (grainyhead like transcription factor 2) Homo sapiens
Analyze
Symbol: GRHL2
Name: grainyhead like transcription factor 2
RGD ID: 1342517
HGNC Page HGNC
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific; chromatin DNA binding activity; and sequence-specific DNA binding activity. Involved in several processes, including bicellular tight junction assembly; negative regulation of keratinocyte differentiation; and regulation of nucleobase-containing compound metabolic process. Localizes to cell-cell junction and nucleoplasm. Implicated in autosomal dominant nonsyndromic deafness 28 and posterior polymorphous corneal dystrophy 4.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BOM; brother of mammalian grainyhead; brother-of-MGR; DFNA28; ECTDS; FLJ11172; FLJ13782; grainyhead-like 2; grainyhead-like protein 2 homolog; grainyhead-like transcription factor 2; MGC149294; MGC149295; PPCD4; TFCP2L3; transcription factor CP2-like 3
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 Ensembl8101,492,439 - 101,669,726 (+)EnsemblGRCh38hg38GRCh38
GRCh388101,492,439 - 101,678,104 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378102,504,667 - 102,681,954 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368102,574,162 - 102,750,995 (+)NCBINCBI36hg18NCBI36
Build 348102,574,161 - 102,750,995NCBI
Celera898,689,599 - 98,866,864 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef897,702,727 - 97,879,982 (+)NCBIHuRef
CHM1_18102,544,909 - 102,722,208 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell-cell junction  (IDA)
chromatin  (ISA)
membrane  (IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA)

References

Additional References at PubMed
PMID:12175488   PMID:12477932   PMID:12549979   PMID:14702039   PMID:15489334   PMID:16461635   PMID:17921507   PMID:18029348   PMID:18752864   PMID:19015635   PMID:19274049   PMID:20301607  
PMID:20379614   PMID:20938050   PMID:20978075   PMID:21081122   PMID:21557239   PMID:21832049   PMID:21873635   PMID:21949371   PMID:22379025   PMID:23254293   PMID:23284647   PMID:23403292  
PMID:23690579   PMID:23813623   PMID:23814079   PMID:23897914   PMID:24068586   PMID:24131873   PMID:24390342   PMID:24756066   PMID:25152456   PMID:25416956   PMID:25550776   PMID:25758223  
PMID:26069269   PMID:26085095   PMID:26400775   PMID:26826389   PMID:26847018   PMID:26887977   PMID:26933170   PMID:27008704   PMID:27083884   PMID:27084311   PMID:27271650   PMID:27612988  
PMID:27926873   PMID:28040329   PMID:28266048   PMID:28278050   PMID:28459369   PMID:28473532   PMID:28514442   PMID:28543713   PMID:28611215   PMID:28636799   PMID:28714958   PMID:28960866  
PMID:29110737   PMID:29309642   PMID:29455378   PMID:29499165   PMID:29509190   PMID:29987050   PMID:30455249   PMID:30508726   PMID:30853467   PMID:30917932   PMID:30958537   PMID:31084623  
PMID:31232964   PMID:31233731   PMID:31340691   PMID:31354028   PMID:31372511   PMID:31515488   PMID:32296183   PMID:32660626  


Genomics

Comparative Map Data
GRHL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8101,492,439 - 101,669,726 (+)EnsemblGRCh38hg38GRCh38
GRCh388101,492,439 - 101,678,104 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378102,504,667 - 102,681,954 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368102,574,162 - 102,750,995 (+)NCBINCBI36hg18NCBI36
Build 348102,574,161 - 102,750,995NCBI
Celera898,689,599 - 98,866,864 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef897,702,727 - 97,879,982 (+)NCBIHuRef
CHM1_18102,544,909 - 102,722,208 (+)NCBICHM1_1
Grhl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391537,233,065 - 37,363,813 (+)NCBIGRCm39mm39
GRCm39 Ensembl1537,233,280 - 37,363,813 (+)Ensembl
GRCm381537,232,821 - 37,363,569 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1537,233,036 - 37,363,569 (+)EnsemblGRCm38mm10GRCm38
MGSCv371537,162,791 - 37,293,324 (+)NCBIGRCm37mm9NCBIm37
MGSCv361537,177,836 - 37,308,152 (+)NCBImm8
Celera1537,856,086 - 37,983,260 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
Grhl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2768,400,287 - 68,530,269 (+)NCBI
Rnor_6.0 Ensembl776,059,386 - 76,197,856 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0776,058,623 - 76,197,360 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0776,188,138 - 76,317,845 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4772,742,859 - 72,872,351 (+)NCBIRGSC3.4rn4RGSC3.4
Celera765,469,270 - 65,597,175 (+)NCBICelera
Cytogenetic Map7q22NCBI
Grhl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541726,401,363 - 26,533,297 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541726,401,337 - 26,533,297 (+)NCBIChiLan1.0ChiLan1.0
GRHL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18100,295,531 - 100,471,830 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8100,308,575 - 100,471,830 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0898,129,147 - 98,308,120 (+)NCBIMhudiblu_PPA_v0panPan3
GRHL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1133,204,898 - 3,362,533 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl133,204,925 - 3,362,096 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha133,204,498 - 3,362,392 (+)NCBI
ROS_Cfam_1.0133,362,118 - 3,520,180 (+)NCBI
UMICH_Zoey_3.1133,205,577 - 3,363,466 (+)NCBI
UNSW_CanFamBas_1.0133,318,462 - 3,476,089 (+)NCBI
UU_Cfam_GSD_1.0133,335,250 - 3,493,208 (+)NCBI
Grhl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530334,430,577 - 34,577,590 (-)NCBI
SpeTri2.0NW_00493647041,856,683 - 41,961,666 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRHL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl435,371,136 - 35,564,919 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1435,368,788 - 35,565,394 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2438,263,513 - 38,412,524 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GRHL2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1896,340,459 - 96,526,366 (+)NCBI
ChlSab1.1 Ensembl896,342,189 - 96,526,363 (+)Ensembl
Grhl2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476318,784,815 - 18,916,358 (+)NCBI

Position Markers
WI-11745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,656,624 - 102,656,773UniSTSGRCh37
Build 368102,725,800 - 102,725,949RGDNCBI36
Celera898,841,538 - 98,841,687RGD
Cytogenetic Map8q22.3UniSTS
HuRef897,854,712 - 97,854,861UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
Whitehead-RH Map8584.3UniSTS
NCBI RH Map81079.9UniSTS
RH123420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,567,353 - 102,567,631UniSTSGRCh37
Build 368102,636,529 - 102,636,807RGDNCBI36
Celera898,752,251 - 98,752,529RGD
Cytogenetic Map8q22.3UniSTS
HuRef897,765,520 - 97,765,798UniSTS
TNG Radiation Hybrid Map850229.0UniSTS
RH65468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,681,736 - 102,681,874UniSTSGRCh37
Build 368102,750,912 - 102,751,050RGDNCBI36
Celera898,866,646 - 98,866,784RGD
Cytogenetic Map8q22.3UniSTS
HuRef897,879,764 - 97,879,902UniSTS
GeneMap99-GB4 RH Map8440.32UniSTS
RH36161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378102,503,614 - 102,503,732UniSTSGRCh37
Build 368102,572,790 - 102,572,908RGDNCBI36
Celera898,688,545 - 98,688,663RGD
Cytogenetic Map8q22.3UniSTS
HuRef897,701,673 - 97,701,791UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
NCBI RH Map81016.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2117
Count of miRNA genes:1008
Interacting mature miRNAs:1231
Transcripts:ENST00000251808, ENST00000395927, ENST00000472106, ENST00000474338, ENST00000517674, ENST00000521085
Prediction methods:Microtar, 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 446 1 627 173 6 18 1468 2 1 103 560 871 165 2 695 5
Low 552 43 460 108 162 104 81 23 279 163 312 627 9 1 36 24 1 2
Below cutoff 1328 2493 523 284 1023 284 2323 1860 2906 56 543 76 1015 1727

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK002034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX117477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN916458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC289750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000395927   ⟹   ENSP00000379260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,492,758 - 101,666,893 (+)Ensembl
RefSeq Acc Id: ENST00000472106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,492,442 - 101,544,070 (+)Ensembl
RefSeq Acc Id: ENST00000474338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,636,770 - 101,664,501 (+)Ensembl
RefSeq Acc Id: ENST00000517674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,632,226 - 101,664,510 (+)Ensembl
RefSeq Acc Id: ENST00000521085   ⟹   ENSP00000430473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,492,439 - 101,492,789 (+)Ensembl
RefSeq Acc Id: ENST00000646743   ⟹   ENSP00000495564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8101,492,439 - 101,669,726 (+)Ensembl
RefSeq Acc Id: NM_001330593   ⟹   NP_001317522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,492,439 - 101,669,726 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024915   ⟹   NP_079191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,492,439 - 101,669,726 (+)NCBI
GRCh378102,504,668 - 102,681,954 (+)RGD
Build 368102,574,162 - 102,750,995 (+)NCBI Archive
Celera898,689,599 - 98,866,864 (+)RGD
HuRef897,702,727 - 97,879,982 (+)RGD
CHM1_18102,544,909 - 102,722,208 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517306   ⟹   XP_011515608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,492,470 - 101,668,814 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517307   ⟹   XP_011515609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,492,442 - 101,678,104 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447286   ⟹   XP_024303054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,492,584 - 101,495,874 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079191   ⟸   NM_024915
- Peptide Label: isoform 1
- UniProtKB: Q6ISB3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515608   ⟸   XM_011517306
- Peptide Label: isoform X1
- UniProtKB: Q6ISB3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515609   ⟸   XM_011517307
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001317522   ⟸   NM_001330593
- Peptide Label: isoform 2
- UniProtKB: Q6ISB3 (UniProtKB/Swiss-Prot),   B4DL28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303054   ⟸   XM_024447286
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000430473   ⟸   ENST00000521085
RefSeq Acc Id: ENSP00000379260   ⟸   ENST00000395927
RefSeq Acc Id: ENSP00000495564   ⟸   ENST00000646743
Protein Domains
CP2

Promoters
RGD ID:7213911
Promoter ID:EPDNEW_H12701
Type:initiation region
Name:GRHL2_2
Description:grainyhead like transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12702  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,492,242 - 101,492,302EPDNEW
RGD ID:7213913
Promoter ID:EPDNEW_H12702
Type:initiation region
Name:GRHL2_1
Description:grainyhead like transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12701  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388101,492,439 - 101,492,499EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024915.4(GRHL2):c.20+133del deletion Corneal dystrophy [RCV000656694]|Corneal dystrophy, posterior polymorphous 4 [RCV000656696] Chr8:101492922 [GRCh38]
Chr8:102505150 [GRCh37]
Chr8:8q22.3
pathogenic|likely pathogenic
NM_024915.3(GRHL2):c.20+133del deletion CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 [RCV000656696] Chr8:101492922 [GRCh38]
Chr8:102505150 [GRCh37]
Chr8:8q22.3
pathogenic
NM_024915.4(GRHL2):c.1609dup (p.Arg537fs) duplication Deafness, autosomal dominant 28 [RCV000002279] Chr8:101644221..101644222 [GRCh38]
Chr8:102656449..102656450 [GRCh37]
Chr8:8q22.3
pathogenic
NM_024915.4(GRHL2):c.1258-1G>A single nucleotide variant Deafness, autosomal dominant 28 [RCV000077792] Chr8:101631636 [GRCh38]
Chr8:102643864 [GRCh37]
Chr8:8q22.3
pathogenic
NM_024915.4(GRHL2):c.*6G>A single nucleotide variant not specified [RCV000039457] Chr8:101666709 [GRCh38]
Chr8:102678937 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.1098+9C>T single nucleotide variant not provided [RCV000966203]|not specified [RCV000039458] Chr8:101599160 [GRCh38]
Chr8:102611388 [GRCh37]
Chr8:8q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024915.4(GRHL2):c.1243G>A (p.Val415Ile) single nucleotide variant not specified [RCV000039459] Chr8:101619683 [GRCh38]
Chr8:102631911 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) single nucleotide variant not specified [RCV000039460] Chr8:101664478 [GRCh38]
Chr8:102676706 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.1806G>C (p.Ser602=) single nucleotide variant not provided [RCV000973425]|not specified [RCV000039461] Chr8:101666631 [GRCh38]
Chr8:102678859 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.26A>G (p.Lys9Arg) single nucleotide variant none provided [RCV001283206]|not provided [RCV000992093]|not specified [RCV000039462] Chr8:101543246 [GRCh38]
Chr8:102555474 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.373T>G (p.Ser125Ala) single nucleotide variant not specified [RCV000039463] Chr8:101558507 [GRCh38]
Chr8:102570735 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.651C>T (p.Ser217=) single nucleotide variant not provided [RCV000883876]|not specified [RCV000039464] Chr8:101558785 [GRCh38]
Chr8:102571013 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.689G>A (p.Ser230Asn) single nucleotide variant not specified [RCV000039465] Chr8:101570349 [GRCh38]
Chr8:102582577 [GRCh37]
Chr8:8q22.3
likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_024915.3(GRHL2):c.634C>T (p.Pro212Ser) single nucleotide variant Malignant melanoma [RCV000068054] Chr8:101558768 [GRCh38]
Chr8:102570996 [GRCh37]
Chr8:102640172 [NCBI36]
Chr8:8q22.3
not provided
NM_024915.3(GRHL2):c.1067C>T (p.Ser356Phe) single nucleotide variant Malignant melanoma [RCV000068055] Chr8:101599120 [GRCh38]
Chr8:102611348 [GRCh37]
Chr8:102680524 [NCBI36]
Chr8:8q22.3
not provided
NM_024915.3(GRHL2):c.1095G>A (p.Ala365=) single nucleotide variant Malignant melanoma [RCV000068056] Chr8:101599148 [GRCh38]
Chr8:102611376 [GRCh37]
Chr8:102680552 [NCBI36]
Chr8:8q22.3
not provided
NM_024915.3(GRHL2):c.1818C>T (p.Thr606=) single nucleotide variant Malignant melanoma [RCV000068057] Chr8:101666643 [GRCh38]
Chr8:102678871 [GRCh37]
Chr8:102748047 [NCBI36]
Chr8:8q22.3
not provided
NM_024915.3(GRHL2):c.20+6884A>C single nucleotide variant Lung cancer [RCV000106747] Chr8:101499673 [GRCh38]
Chr8:102511901 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His) single nucleotide variant Ectodermal dysplasia/short stature syndrome [RCV000144237]|not provided [RCV001281606] Chr8:101619632 [GRCh38]
Chr8:102631860 [GRCh37]
Chr8:8q22.3
pathogenic|likely pathogenic
NM_024915.4(GRHL2):c.1445T>A (p.Ile482Lys) single nucleotide variant Ectodermal dysplasia/short stature syndrome [RCV000144238] Chr8:101632325 [GRCh38]
Chr8:102644553 [GRCh37]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1 copy number loss See cases [RCV000137322] Chr8:99580206..101547228 [GRCh38]
Chr8:100592434..102559456 [GRCh37]
Chr8:100661610..102628632 [NCBI36]
Chr8:8q22.2-22.3
likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_024915.4(GRHL2):c.449T>G (p.Ile150Ser) single nucleotide variant not specified [RCV000156257] Chr8:101558583 [GRCh38]
Chr8:102570811 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.543G>A (p.Glu181=) single nucleotide variant not specified [RCV000150798] Chr8:101558677 [GRCh38]
Chr8:102570905 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.1500G>A (p.Thr500=) single nucleotide variant not provided [RCV000959032]|not specified [RCV000150799] Chr8:101636911 [GRCh38]
Chr8:102649139 [GRCh37]
Chr8:8q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024915.4(GRHL2):c.1517+12A>G single nucleotide variant not specified [RCV000150800] Chr8:101636940 [GRCh38]
Chr8:102649168 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.1690A>T (p.Met564Leu) single nucleotide variant not specified [RCV000150801] Chr8:101649491 [GRCh38]
Chr8:102661719 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.216+8C>T single nucleotide variant not specified [RCV000155124] Chr8:101543444 [GRCh38]
Chr8:102555672 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) single nucleotide variant not specified [RCV000155125] Chr8:101558682 [GRCh38]
Chr8:102570910 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.1572A>G (p.Pro524=) single nucleotide variant not provided [RCV000992092]|not specified [RCV000155363] Chr8:101644185 [GRCh38]
Chr8:102656413 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.285-14del deletion none provided [RCV001289720]|not specified [RCV000155600] Chr8:101558400 [GRCh38]
Chr8:102570628 [GRCh37]
Chr8:8q22.3
benign|not provided
NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn) single nucleotide variant not specified [RCV000218162] Chr8:101558775 [GRCh38]
Chr8:102571003 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) single nucleotide variant not provided [RCV000732186]|not specified [RCV000218517] Chr8:101573737 [GRCh38]
Chr8:102585965 [GRCh37]
Chr8:8q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024915.4(GRHL2):c.816A>G (p.Lys272=) single nucleotide variant not specified [RCV000222734] Chr8:101573749 [GRCh38]
Chr8:102585977 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.1764-12C>G single nucleotide variant not specified [RCV000214532] Chr8:101666577 [GRCh38]
Chr8:102678805 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr) single nucleotide variant not specified [RCV000223159] Chr8:101632228 [GRCh38]
Chr8:102644456 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.1416T>C (p.Pro472=) single nucleotide variant not specified [RCV000216820] Chr8:101632296 [GRCh38]
Chr8:102644524 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.1764-19C>T single nucleotide variant not specified [RCV000254175] Chr8:101666570 [GRCh38]
Chr8:102678798 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.1499C>A (p.Thr500Lys) single nucleotide variant not provided [RCV000336699] Chr8:101636910 [GRCh38]
Chr8:102649138 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.1098+1G>A single nucleotide variant not provided [RCV000358123] Chr8:101599152 [GRCh38]
Chr8:102611380 [GRCh37]
Chr8:8q22.3
likely pathogenic
NM_024915.4(GRHL2):c.801del (p.Met267fs) deletion not provided [RCV000487664] Chr8:101573734 [GRCh38]
Chr8:102585962 [GRCh37]
Chr8:8q22.3
likely pathogenic
NM_024915.4(GRHL2):c.1376T>C (p.Leu459Ser) single nucleotide variant not provided [RCV000732118] Chr8:101632256 [GRCh38]
Chr8:102644484 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_024915.4(GRHL2):c.34G>T (p.Val12Leu) single nucleotide variant Progressive sensorineural hearing impairment [RCV000416587] Chr8:101543254 [GRCh38]
Chr8:102555482 [GRCh37]
Chr8:8q22.3
likely pathogenic|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102590127-104034598)x1 copy number loss See cases [RCV000511503] Chr8:102590127..104034598 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_024915.4(GRHL2):c.1081G>A (p.Val361Met) single nucleotide variant not specified [RCV000604007] Chr8:101599134 [GRCh38]
Chr8:102611362 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.20+544G>T single nucleotide variant Corneal dystrophy [RCV000656692]|Corneal dystrophy, posterior polymorphous 4 [RCV000656697] Chr8:101493333 [GRCh38]
Chr8:102505561 [GRCh37]
Chr8:8q22.3
pathogenic|likely pathogenic
NM_024915.4(GRHL2):c.20+257del deletion Corneal dystrophy [RCV000656693] Chr8:101493045 [GRCh38]
Chr8:102505273 [GRCh37]
Chr8:8q22.3
likely pathogenic
NM_024915.4(GRHL2):c.319T>A (p.Leu107Met) single nucleotide variant not specified [RCV000610408] Chr8:101558453 [GRCh38]
Chr8:102570681 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.83C>G (p.Ala28Gly) single nucleotide variant not specified [RCV000613350] Chr8:101543303 [GRCh38]
Chr8:102555531 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.685C>T (p.Arg229Trp) single nucleotide variant not specified [RCV000616467] Chr8:101570345 [GRCh38]
Chr8:102582573 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_024915.4(GRHL2):c.1212A>G (p.Lys404=) single nucleotide variant not specified [RCV000607957] Chr8:101619652 [GRCh38]
Chr8:102631880 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.1836G>A (p.Glu612=) single nucleotide variant not specified [RCV000614053] Chr8:101666661 [GRCh38]
Chr8:102678889 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.-24C>G single nucleotide variant Corneal dystrophy, posterior polymorphous 4 [RCV000988105]|not specified [RCV000614137] Chr8:101492746 [GRCh38]
Chr8:102504974 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.849C>T (p.Thr283=) single nucleotide variant not specified [RCV000611961] Chr8:101573782 [GRCh38]
Chr8:102586010 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.-23G>C single nucleotide variant not specified [RCV000605776] Chr8:101492747 [GRCh38]
Chr8:102504975 [GRCh37]
Chr8:8q22.3
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102584167-104236192)x1 copy number loss not provided [RCV000683013] Chr8:102584167..104236192 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3
pathogenic
NM_024915.4(GRHL2):c.1806G>A (p.Ser602=) single nucleotide variant not provided [RCV000711853] Chr8:101666631 [GRCh38]
Chr8:102678859 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102614648-102626522)x1 copy number loss not provided [RCV000747742] Chr8:102614648..102626522 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8q22.3(chr8:102622392-102627955)x1 copy number loss not provided [RCV000747743] Chr8:102622392..102627955 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.1264G>T (p.Glu422Ter) single nucleotide variant not provided [RCV000760848] Chr8:101631643 [GRCh38]
Chr8:102643871 [GRCh37]
Chr8:8q22.3
likely pathogenic
NM_024915.4(GRHL2):c.417C>T (p.Tyr139=) single nucleotide variant not provided [RCV000841011] Chr8:101558551 [GRCh38]
Chr8:102570779 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.1345+26C>T single nucleotide variant not provided [RCV000834376] Chr8:101631750 [GRCh38]
Chr8:102643978 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.454G>A (p.Val152Met) single nucleotide variant not specified [RCV000825767] Chr8:101558588 [GRCh38]
Chr8:102570816 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.974A>C (p.His325Pro) single nucleotide variant not specified [RCV000825932] Chr8:101577490 [GRCh38]
Chr8:102589718 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_024915.4(GRHL2):c.1152G>A (p.Val384=) single nucleotide variant not provided [RCV000842414] Chr8:101619592 [GRCh38]
Chr8:102631820 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.432C>T (p.Pro144=) single nucleotide variant not specified [RCV000825167] Chr8:101558566 [GRCh38]
Chr8:102570794 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.1546C>T (p.Arg516Trp) single nucleotide variant not specified [RCV000825346] Chr8:101644159 [GRCh38]
Chr8:102656387 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_024915.4(GRHL2):c.981G>A (p.Ala327=) single nucleotide variant not provided [RCV000992094] Chr8:101577497 [GRCh38]
Chr8:102589725 [GRCh37]
Chr8:8q22.3
benign
NM_024915.4(GRHL2):c.1698+7C>T single nucleotide variant not provided [RCV000905097] Chr8:101649506 [GRCh38]
Chr8:102661734 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.987G>A (p.Gln329=) single nucleotide variant not provided [RCV000999061] Chr8:101577503 [GRCh38]
Chr8:102589731 [GRCh37]
Chr8:8q22.3
likely benign
NM_024915.4(GRHL2):c.975_986del (p.His325_Lys328del) deletion not provided [RCV001091698] Chr8:101577487..101577498 [GRCh38]
Chr8:102589715..102589726 [GRCh37]
Chr8:8q22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2799 AgrOrtholog
COSMIC GRHL2 COSMIC
Ensembl Genes ENSG00000083307 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000379260 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495564 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000395927 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000646743 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000083307 GTEx
HGNC ID HGNC:2799 ENTREZGENE
Human Proteome Map GRHL2 Human Proteome Map
InterPro CP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79977 UniProtKB/Swiss-Prot
NCBI Gene 79977 ENTREZGENE
OMIM 608576 OMIM
  608641 OMIM
  616029 OMIM
  618031 OMIM
Pfam CP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27270 PharmGKB
UniProt B4DL28 ENTREZGENE, UniProtKB/TrEMBL
  GRHL2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A1L303 UniProtKB/Swiss-Prot
  Q6NT03 UniProtKB/Swiss-Prot
  Q9H8B8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 GRHL2  grainyhead like transcription factor 2  GRHL2  grainyhead-like transcription factor 2  Symbol and/or name change 5135510 APPROVED
2015-08-04 GRHL2  grainyhead-like transcription factor 2  GRHL2  grainyhead-like 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED