ARHGEF5 (Rho guanine nucleotide exchange factor 5) - Rat Genome Database

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Gene: ARHGEF5 (Rho guanine nucleotide exchange factor 5) Homo sapiens
Analyze
Symbol: ARHGEF5
Name: Rho guanine nucleotide exchange factor 5
RGD ID: 735723
HGNC Page HGNC:13209
Description: Enables guanyl-nucleotide exchange factor activity. Involved in several processes, including positive regulation of JUN kinase activity; positive regulation of protein import; and positive regulation of stress fiber assembly. Located in cytosol; nucleoplasm; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686N1969; ephexin-3; ephexin3; GEF5; guanine nucleotide regulatory protein TIM; oncogene TIM; P60; p60 TIM; Rho guanine nucleotide exchange factor (GEF) 5; TIM; TIM1; transforming immortalized mammary oncogene
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ARHGEF34P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387144,355,402 - 144,380,632 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7144,355,288 - 144,380,632 (+)EnsemblGRCh38hg38GRCh38
GRCh377144,052,495 - 144,077,725 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367143,683,422 - 143,708,658 (+)NCBINCBI36Build 36hg18NCBI36
Build 347143,490,136 - 143,515,372NCBI
Celera7138,733,824 - 138,751,769 (+)NCBICelera
Cytogenetic Map7q35NCBI
HuRef7138,140,991 - 138,155,879 (+)NCBIHuRef
CHM1_17144,061,000 - 144,086,219 (+)NCBICHM1_1
T2T-CHM13v2.07145,535,577 - 145,560,799 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27143,390,747 - 143,415,984 (+)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

Cellular Component
anchoring junction  (IEA)
cell periphery  (IDA)
cell projection  (IEA)
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,TAS)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)
plasma membrane  (IDA)
podosome  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7656213   PMID:8134109   PMID:9314836   PMID:12006984   PMID:12107413   PMID:12477932   PMID:12853948   PMID:14662653   PMID:14702039   PMID:15489334   PMID:15601624   PMID:15681748  
PMID:15778465   PMID:15951569   PMID:16964398   PMID:18029348   PMID:18067320   PMID:18444243   PMID:19713215   PMID:19913121   PMID:20628086   PMID:21516116   PMID:21525037   PMID:21832049  
PMID:21873635   PMID:21988832   PMID:23359676   PMID:23535729   PMID:23647072   PMID:23956138   PMID:24126923   PMID:24157810   PMID:24189400   PMID:25416956   PMID:25476789   PMID:25645980  
PMID:25743165   PMID:25754235   PMID:25777963   PMID:25911094   PMID:26503245   PMID:27107012   PMID:28514442   PMID:29509190   PMID:31871319   PMID:31980649   PMID:32203420   PMID:32296183  
PMID:32707033   PMID:33961781   PMID:34591642   PMID:35044719   PMID:35384245   PMID:35563538   PMID:36089195   PMID:36931259   PMID:37515282   PMID:38777146  


Genomics

Comparative Map Data
ARHGEF5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387144,355,402 - 144,380,632 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7144,355,288 - 144,380,632 (+)EnsemblGRCh38hg38GRCh38
GRCh377144,052,495 - 144,077,725 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367143,683,422 - 143,708,658 (+)NCBINCBI36Build 36hg18NCBI36
Build 347143,490,136 - 143,515,372NCBI
Celera7138,733,824 - 138,751,769 (+)NCBICelera
Cytogenetic Map7q35NCBI
HuRef7138,140,991 - 138,155,879 (+)NCBIHuRef
CHM1_17144,061,000 - 144,086,219 (+)NCBICHM1_1
T2T-CHM13v2.07145,535,577 - 145,560,799 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27143,390,747 - 143,415,984 (+)NCBI
Arhgef5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39643,242,578 - 43,266,250 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl643,242,516 - 43,266,254 (+)EnsemblGRCm39 Ensembl
GRCm38643,265,644 - 43,289,320 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl643,265,582 - 43,289,320 (+)EnsemblGRCm38mm10GRCm38
MGSCv37643,215,643 - 43,239,319 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36643,194,207 - 43,218,927 (+)NCBIMGSCv36mm8
Celera643,213,631 - 43,237,307 (+)NCBICelera
Cytogenetic Map6B2.1NCBI
cM Map621.15NCBI
Arhgef5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8473,087,240 - 73,112,311 (+)NCBIGRCr8
mRatBN7.2472,087,205 - 72,112,316 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl472,087,247 - 72,111,254 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0472,710,775 - 72,736,415 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl472,718,458 - 72,735,007 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04137,413,739 - 137,438,761 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4471,036,550 - 71,053,522 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1471,320,405 - 71,322,300 (+)NCBI
Celera467,033,097 - 67,058,406 (+)NCBICelera
Cytogenetic Map4q24NCBI
Arhgef5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955491545,342 - 563,543 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955491539,040 - 561,494 (+)NCBIChiLan1.0ChiLan1.0
ARHGEF5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26180,928,249 - 180,953,531 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1732,938,508 - 32,963,788 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07136,069,598 - 136,094,866 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17148,558,803 - 148,584,078 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7148,558,803 - 148,584,078 (+)Ensemblpanpan1.1panPan2
ARHGEF5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1165,648,947 - 5,673,488 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl165,649,944 - 5,673,568 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha166,760,254 - 6,784,778 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0165,512,244 - 5,536,787 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl165,513,241 - 5,536,878 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1165,442,361 - 5,466,636 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0165,300,545 - 5,325,074 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0165,371,318 - 5,395,833 (-)NCBIUU_Cfam_GSD_1.0
Arhgef5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511811,502,574 - 11,524,399 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365271,385,119 - 1,400,337 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365271,385,117 - 1,400,847 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGEF5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9113,364,879 - 113,394,389 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19113,364,849 - 113,394,446 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29124,683,889 - 124,703,521 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGEF5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121112,993,339 - 113,021,237 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21113,000,705 - 113,018,050 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660729,769,246 - 9,794,511 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arhgef5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480010,843,729 - 10,870,392 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480010,846,664 - 10,870,331 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARHGEF5
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 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 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_005435.3(ARHGEF5):c.569C>T (p.Pro190Leu) single nucleotide variant Malignant melanoma [RCV000061591] Chr7:144363238 [GRCh38]
Chr7:144060331 [GRCh37]
Chr7:143691264 [NCBI36]
Chr7:7q35		 not provided
NM_005435.3(ARHGEF5):c.936G>A (p.Arg312=) single nucleotide variant Malignant melanoma [RCV000061592] Chr7:144363605 [GRCh38]
Chr7:144060698 [GRCh37]
Chr7:143691631 [NCBI36]
Chr7:7q35		 not provided
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35		 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 7q35(chr7:143735880-144409525)x3 copy number gain See cases [RCV000136107] Chr7:143735880..144409525 [GRCh38]
Chr7:143432973..144106618 [GRCh37]
Chr7:143063906..143737551 [NCBI36]
Chr7:7q35		 likely benign
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4 copy number gain See cases [RCV000138555] Chr7:143596735..150089125 [GRCh38]
Chr7:143293828..149786214 [GRCh37]
Chr7:143003950..149417147 [NCBI36]
Chr7:7q35-36.1		 likely pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35		 uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 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
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 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 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 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
NM_005435.4(ARHGEF5):c.256G>A (p.Val86Met) single nucleotide variant not specified [RCV004325565] Chr7:144362925 [GRCh38]
Chr7:144060018 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.667C>T (p.His223Tyr) single nucleotide variant not specified [RCV004313787] Chr7:144363336 [GRCh38]
Chr7:144060429 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.875G>A (p.Gly292Glu) single nucleotide variant not specified [RCV004300671] Chr7:144363544 [GRCh38]
Chr7:144060637 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.3898G>A (p.Val1300Ile) single nucleotide variant not specified [RCV004292708] Chr7:144372351 [GRCh38]
Chr7:144069444 [GRCh37]
Chr7:7q35		 likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 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
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1		 benign
GRCh37/hg19 7q35(chr7:143887276-144079906)x1 copy number loss not provided [RCV000747095] Chr7:143887276..144079906 [GRCh37]
Chr7:7q35		 uncertain significance
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 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q35(chr7:143572320-144474990)x3 copy number gain not provided [RCV000848430] Chr7:143572320..144474990 [GRCh37]
Chr7:7q35		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35		 uncertain significance
NM_005435.4(ARHGEF5):c.793G>T (p.Val265Phe) single nucleotide variant not specified [RCV004320703] Chr7:144363462 [GRCh38]
Chr7:144060555 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.1031A>G (p.Lys344Arg) single nucleotide variant not specified [RCV004284121] Chr7:144363700 [GRCh38]
Chr7:144060793 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.640G>A (p.Glu214Lys) single nucleotide variant not specified [RCV004303751] Chr7:144363309 [GRCh38]
Chr7:144060402 [GRCh37]
Chr7:7q35		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_005435.4(ARHGEF5):c.2782A>G (p.Met928Val) single nucleotide variant not specified [RCV004301496] Chr7:144365451 [GRCh38]
Chr7:144062544 [GRCh37]
Chr7:7q35		 uncertain significance
GRCh37/hg19 7q35(chr7:143425718-144075390)x1 copy number loss See cases [RCV002286335] Chr7:143425718..144075390 [GRCh37]
Chr7:7q35		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_005435.4(ARHGEF5):c.3858C>G (p.Ser1286Arg) single nucleotide variant not specified [RCV004187163] Chr7:144372311 [GRCh38]
Chr7:144069404 [GRCh37]
Chr7:7q35		 likely benign
NM_005435.4(ARHGEF5):c.2684G>A (p.Arg895His) single nucleotide variant not specified [RCV004240388] Chr7:144365353 [GRCh38]
Chr7:144062446 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2441C>T (p.Pro814Leu) single nucleotide variant not specified [RCV004237530] Chr7:144365110 [GRCh38]
Chr7:144062203 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.703C>G (p.Gln235Glu) single nucleotide variant not specified [RCV004150804] Chr7:144363372 [GRCh38]
Chr7:144060465 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4481T>G (p.Ile1494Ser) single nucleotide variant not specified [RCV004169254] Chr7:144377140 [GRCh38]
Chr7:144074233 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4025C>T (p.Thr1342Met) single nucleotide variant not specified [RCV004191905] Chr7:144372732 [GRCh38]
Chr7:144069825 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4571G>A (p.Arg1524Gln) single nucleotide variant not specified [RCV004148376] Chr7:144378801 [GRCh38]
Chr7:144075894 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.1287G>A (p.Met429Ile) single nucleotide variant not specified [RCV004128125] Chr7:144363956 [GRCh38]
Chr7:144061049 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2113C>A (p.Pro705Thr) single nucleotide variant not specified [RCV004164402] Chr7:144364782 [GRCh38]
Chr7:144061875 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2577G>T (p.Arg859Ser) single nucleotide variant not specified [RCV004197365] Chr7:144365246 [GRCh38]
Chr7:144062339 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4148C>T (p.Pro1383Leu) single nucleotide variant not specified [RCV004156652] Chr7:144374739 [GRCh38]
Chr7:144071832 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.3090C>A (p.Asn1030Lys) single nucleotide variant not specified [RCV004148429] Chr7:144365759 [GRCh38]
Chr7:144062852 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.242A>G (p.Glu81Gly) single nucleotide variant not specified [RCV004157892] Chr7:144362911 [GRCh38]
Chr7:144060004 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.1631G>T (p.Arg544Met) single nucleotide variant not specified [RCV004130808] Chr7:144364300 [GRCh38]
Chr7:144061393 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.1090A>G (p.Ile364Val) single nucleotide variant not specified [RCV004133512] Chr7:144363759 [GRCh38]
Chr7:144060852 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2378C>T (p.Ser793Phe) single nucleotide variant not specified [RCV004185836] Chr7:144365047 [GRCh38]
Chr7:144062140 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.3013T>G (p.Trp1005Gly) single nucleotide variant not specified [RCV004108279] Chr7:144365682 [GRCh38]
Chr7:144062775 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.343C>G (p.Gln115Glu) single nucleotide variant not specified [RCV004199185] Chr7:144363012 [GRCh38]
Chr7:144060105 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2876A>T (p.His959Leu) single nucleotide variant not specified [RCV004077607] Chr7:144365545 [GRCh38]
Chr7:144062638 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2891C>T (p.Ala964Val) single nucleotide variant not specified [RCV004281307] Chr7:144365560 [GRCh38]
Chr7:144062653 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.992A>G (p.Gln331Arg) single nucleotide variant not specified [RCV004317538] Chr7:144363661 [GRCh38]
Chr7:144060754 [GRCh37]
Chr7:7q35		 likely benign
NM_005435.4(ARHGEF5):c.3571C>T (p.Arg1191Cys) single nucleotide variant not specified [RCV004330923] Chr7:144371200 [GRCh38]
Chr7:144068293 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.1430A>G (p.Lys477Arg) single nucleotide variant not specified [RCV004268976] Chr7:144364099 [GRCh38]
Chr7:144061192 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2425T>C (p.Tyr809His) single nucleotide variant not specified [RCV004259286] Chr7:144365094 [GRCh38]
Chr7:144062187 [GRCh37]
Chr7:7q35		 uncertain significance
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_005435.4(ARHGEF5):c.1387A>G (p.Ile463Val) single nucleotide variant not specified [RCV004342429] Chr7:144364056 [GRCh38]
Chr7:144061149 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.218A>G (p.Glu73Gly) single nucleotide variant not specified [RCV004338473] Chr7:144362887 [GRCh38]
Chr7:144059980 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.1346T>C (p.Leu449Pro) single nucleotide variant not specified [RCV004357472] Chr7:144364015 [GRCh38]
Chr7:144061108 [GRCh37]
Chr7:7q35		 uncertain significance
GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1 copy number loss not provided [RCV003482990] Chr7:144075624..149323060 [GRCh37]
Chr7:7q35-36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_005435.4(ARHGEF5):c.1504G>T (p.Val502Leu) single nucleotide variant not provided [RCV003423815]|not specified [RCV004364624] Chr7:144364173 [GRCh38]
Chr7:144061266 [GRCh37]
Chr7:7q35		 likely benign|uncertain significance
NM_005435.4(ARHGEF5):c.4149G>A (p.Pro1383=) single nucleotide variant not provided [RCV003434216] Chr7:144374740 [GRCh38]
Chr7:144071833 [GRCh37]
Chr7:7q35		 likely benign
NM_005435.4(ARHGEF5):c.1092A>C (p.Ile364=) single nucleotide variant not provided [RCV003423814] Chr7:144363761 [GRCh38]
Chr7:144060854 [GRCh37]
Chr7:7q35		 likely benign
NM_005435.4(ARHGEF5):c.2700G>A (p.Pro900=) single nucleotide variant not provided [RCV003423816] Chr7:144365369 [GRCh38]
Chr7:144062462 [GRCh37]
Chr7:7q35		 likely benign
NM_005435.4(ARHGEF5):c.906C>T (p.Asp302=) single nucleotide variant not provided [RCV003434215] Chr7:144363575 [GRCh38]
Chr7:144060668 [GRCh37]
Chr7:7q35		 likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_005435.4(ARHGEF5):c.1228C>G (p.Leu410Val) single nucleotide variant not specified [RCV004425230] Chr7:144363897 [GRCh38]
Chr7:144060990 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2532C>G (p.Ile844Met) single nucleotide variant not specified [RCV004425231] Chr7:144365201 [GRCh38]
Chr7:144062294 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.2602G>A (p.Gly868Arg) single nucleotide variant not specified [RCV004425232] Chr7:144365271 [GRCh38]
Chr7:144062364 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4535C>G (p.Ser1512Cys) single nucleotide variant not specified [RCV004425233] Chr7:144378765 [GRCh38]
Chr7:144075858 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4658T>A (p.Leu1553His) single nucleotide variant not specified [RCV004425235] Chr7:144379920 [GRCh38]
Chr7:144077013 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.478A>T (p.Thr160Ser) single nucleotide variant not specified [RCV004425236] Chr7:144363147 [GRCh38]
Chr7:144060240 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.675G>C (p.Gln225His) single nucleotide variant not specified [RCV004425237] Chr7:144363344 [GRCh38]
Chr7:144060437 [GRCh37]
Chr7:7q35		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_005435.4(ARHGEF5):c.4039G>A (p.Ala1347Thr) single nucleotide variant not specified [RCV004662984] Chr7:144372746 [GRCh38]
Chr7:144069839 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4108T>C (p.Tyr1370His) single nucleotide variant not specified [RCV004662997] Chr7:144373252 [GRCh38]
Chr7:144070345 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.1324G>C (p.Glu442Gln) single nucleotide variant not specified [RCV004663006] Chr7:144363993 [GRCh38]
Chr7:144061086 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4576A>G (p.Asn1526Asp) single nucleotide variant not specified [RCV004663015] Chr7:144378806 [GRCh38]
Chr7:144075899 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.1271G>T (p.Gly424Val) single nucleotide variant not specified [RCV004662958] Chr7:144363940 [GRCh38]
Chr7:144061033 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.798T>A (p.Asn266Lys) single nucleotide variant not specified [RCV004671945] Chr7:144363467 [GRCh38]
Chr7:144060560 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4447C>T (p.Arg1483Cys) single nucleotide variant not specified [RCV004662966] Chr7:144375662 [GRCh38]
Chr7:144072755 [GRCh37]
Chr7:7q35		 uncertain significance
NM_005435.4(ARHGEF5):c.4409G>A (p.Arg1470Gln) single nucleotide variant not specified [RCV004662974] Chr7:144375624 [GRCh38]
Chr7:144072717 [GRCh37]
Chr7:7q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1095
Count of miRNA genes:562
Interacting mature miRNAs:628
Transcripts:ENST00000056217, ENST00000471847, ENST00000474817, ENST00000498580
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406967232GWAS616208_Hbreast cancer, ovarian carcinoma QTL GWAS616208 (human)9e-11breast cancer, ovarian carcinoma7144377836144377837Human
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
406960964GWAS609940_Hprostate carcinoma, breast carcinoma, ovarian carcinoma QTL GWAS609940 (human)7e-12prostate carcinoma, breast carcinoma, ovarian carcinoma7144377836144377837Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human
406911468GWAS560444_Hbreast carcinoma QTL GWAS560444 (human)7e-11breast carcinoma7144377836144377837Human
406913551GWAS562527_Hbreast carcinoma QTL GWAS562527 (human)1e-08breast carcinoma7144377836144377837Human
406926480GWAS575456_Hgut microbiome measurement QTL GWAS575456 (human)0.000005gut microbiome measurement7144377836144377837Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
406889234GWAS538210_Hbreast carcinoma QTL GWAS538210 (human)2e-11breast carcinoma7144377836144377837Human
406958996GWAS607972_Hbreast carcinoma QTL GWAS607972 (human)1e-11breast carcinoma7144377836144377837Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
406913689GWAS562665_Hbreast carcinoma QTL GWAS562665 (human)4e-10breast carcinoma7144377836144377837Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
407108953GWAS757929_HFEV/FVC ratio, response to bronchodilator QTL GWAS757929 (human)0.000004FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)7144378024144378025Human

Markers in Region
RH80813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,077,171 - 144,077,421UniSTSGRCh37
Build 367143,708,104 - 143,708,354RGDNCBI36
Celera7138,751,215 - 138,751,465RGD
Cytogenetic Map7q35UniSTS
HuRef7138,155,325 - 138,155,575UniSTS
CRA_TCAGchr7v27143,415,430 - 143,415,680UniSTS
GeneMap99-GB4 RH Map7659.14UniSTS
RH103260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,072,935 - 144,073,064UniSTSGRCh37
GRCh377143,970,757 - 143,970,886UniSTSGRCh37
Build 367143,601,690 - 143,601,819RGDNCBI36
Celera7138,746,979 - 138,747,108RGD
Cytogenetic Map7q35UniSTS
HuRef7138,151,089 - 138,151,218UniSTS
CRA_TCAGchr7v27143,411,194 - 143,411,323UniSTS
CRA_TCAGchr7v27143,309,015 - 143,309,144UniSTS
GeneMap99-GB4 RH Map7658.07UniSTS
TIM1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,076,992 - 144,077,453UniSTSGRCh37
Build 367143,707,925 - 143,708,386RGDNCBI36
Celera7138,751,036 - 138,751,497RGD
Cytogenetic Map7q35UniSTS
HuRef7138,155,146 - 138,155,607UniSTS
CRA_TCAGchr7v27143,415,251 - 143,415,712UniSTS
ARHGEF5_3900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377144,077,051 - 144,077,744UniSTSGRCh37
Build 367143,707,984 - 143,708,677RGDNCBI36
Celera7138,751,095 - 138,751,788RGD
HuRef7138,155,205 - 138,155,898UniSTS
CRA_TCAGchr7v27143,415,310 - 143,416,003UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2426 2788 2227 4885 1719 2308 4 620 1792 462 2250 7128 6308 43 3656 844 1724 1577 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK160365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF209445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG831953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI256663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD674013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U02082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000056217   ⟹   ENSP00000056217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7144,355,402 - 144,380,632 (+)Ensembl
Ensembl Acc Id: ENST00000471847   ⟹   ENSP00000418227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7144,366,133 - 144,380,056 (+)Ensembl
Ensembl Acc Id: ENST00000474817   ⟹   ENSP00000418745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7144,364,909 - 144,380,631 (+)Ensembl
Ensembl Acc Id: ENST00000498580   ⟹   ENSP00000417979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7144,355,288 - 144,367,339 (+)Ensembl
RefSeq Acc Id: NM_005435   ⟹   NP_005426
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,355,402 - 144,380,632 (+)NCBI
GRCh377144,052,489 - 144,077,725 (+)RGD
Build 367143,683,422 - 143,708,658 (+)NCBI Archive
Celera7138,733,824 - 138,751,769 (+)RGD
HuRef7138,140,991 - 138,155,879 (+)RGD
CHM1_17144,061,000 - 144,086,219 (+)NCBI
T2T-CHM13v2.07145,535,577 - 145,560,799 (+)NCBI
CRA_TCAGchr7v27143,390,747 - 143,415,984 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017012623   ⟹   XP_016868112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,355,402 - 144,371,992 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054359021   ⟹   XP_054214996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07145,535,577 - 145,560,799 (+)NCBI
RefSeq Acc Id: NP_005426   ⟸   NM_005435
- UniProtKB: A6NNJ2 (UniProtKB/Swiss-Prot),   Q6ZML7 (UniProtKB/Swiss-Prot),   Q12774 (UniProtKB/Swiss-Prot),   B9EGR7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868112   ⟸   XM_017012623
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000056217   ⟸   ENST00000056217
Ensembl Acc Id: ENSP00000417979   ⟸   ENST00000498580
Ensembl Acc Id: ENSP00000418227   ⟸   ENST00000471847
Ensembl Acc Id: ENSP00000418745   ⟸   ENST00000474817
RefSeq Acc Id: XP_054214996   ⟸   XM_054359021
- Peptide Label: isoform X2
Protein Domains
DH   PH   Rho guanine nucleotide exchange factor 5/35 N-   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12774-F1-model_v2 AlphaFold Q12774 1-1597 view protein structure

Promoters
RGD ID:7212189
Promoter ID:EPDNEW_H11841
Type:initiation region
Name:ARHGEF5_3
Description:Rho guanine nucleotide exchange factor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11842  EPDNEW_H11843  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,355,142 - 144,355,202EPDNEW
RGD ID:7212191
Promoter ID:EPDNEW_H11842
Type:initiation region
Name:ARHGEF5_1
Description:Rho guanine nucleotide exchange factor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11841  EPDNEW_H11843  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,355,326 - 144,355,386EPDNEW
RGD ID:7212203
Promoter ID:EPDNEW_H11843
Type:multiple initiation site
Name:ARHGEF5_2
Description:Rho guanine nucleotide exchange factor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11841  EPDNEW_H11842  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,366,109 - 144,366,169EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13209 AgrOrtholog
COSMIC ARHGEF5 COSMIC
Ensembl Genes ENSG00000050327 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284933 UniProtKB/TrEMBL
Ensembl Transcript ENST00000056217 ENTREZGENE
  ENST00000056217.10 UniProtKB/Swiss-Prot
  ENST00000471847.2 UniProtKB/Swiss-Prot
  ENST00000474817.5 UniProtKB/TrEMBL
  ENST00000498580.5 UniProtKB/TrEMBL
  ENST00000642803.2 UniProtKB/TrEMBL
  ENST00000647153.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000050327 GTEx
  ENSG00000284933 GTEx
HGNC ID HGNC:13209 ENTREZGENE
Human Proteome Map ARHGEF5 Human Proteome Map
InterPro ARHGEF5/35_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephexin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDS_CDC24_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_ephexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7984 UniProtKB/Swiss-Prot
NCBI Gene 7984 ENTREZGENE
OMIM 600888 OMIM
PANTHER DH DOMAIN-CONTAINING PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANINE NUCLEOTIDE EXCHANGE FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ARHGEF5_35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24975 PharmGKB
PROSITE DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N7S2_HUMAN UniProtKB/TrEMBL
  A0A2R8YF49_HUMAN UniProtKB/TrEMBL
  A6NNJ2 ENTREZGENE
  ARHG5_HUMAN UniProtKB/Swiss-Prot
  B9EGR7 ENTREZGENE, UniProtKB/TrEMBL
  C9J591_HUMAN UniProtKB/TrEMBL
  H0Y895_HUMAN UniProtKB/TrEMBL
  H9XFB6_HUMAN UniProtKB/TrEMBL
  Q12774 ENTREZGENE
  Q6ZML7 ENTREZGENE
UniProt Secondary A6NNJ2 UniProtKB/Swiss-Prot
  Q6ZML7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ARHGEF5  Rho guanine nucleotide exchange factor 5  ARHGEF5  Rho guanine nucleotide exchange factor (GEF) 5  Symbol and/or name change 5135510 APPROVED