RHPN2 (rhophilin Rho GTPase binding protein 2)

Gene: RHPN2 (rhophilin Rho GTPase binding protein 2) Homo sapiens

Analyze

Symbol:

RHPN2

Name:

rhophilin Rho GTPase binding protein 2

RGD ID:

1318093

HGNC Page

HGNC:19974

Description:

Acts upstream of or within negative regulation of stress fiber assembly. Located in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

76 kDa RhoB effector protein; GTP-Rho-binding protein 2; P76RBE; RHOBP; rhophilin 2; rhophilin, Rho GTPase binding protein 2; rhophilin-2; rhophilin-like Rho-GTPase binding protein

RGD Orthologs

Alliance Genes

More Info

more info ...

Related Pseudogenes:

RHPN2P1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	32,978,592 - 33,064,888 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	32,978,592 - 33,064,888 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	33,469,498 - 33,555,794 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	38,161,338 - 38,247,634 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	38,161,338 - 38,247,634	NCBI
Celera	19	30,163,089 - 30,249,415 (-)	NCBI		Celera
Cytogenetic Map	19	q13.11	NCBI
HuRef	19	29,972,199 - 30,057,917 (-)	NCBI		HuRef
CHM1_1	19	33,470,602 - 33,556,906 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	35,497,266 - 35,583,576 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acute myeloid leukemia (IAGP)

Colorectal Neoplasms (EXP)

genetic disease (IAGP)

hereditary spastic paraplegia 75 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP,ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (ISO)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

C60 fullerene (ISO)

caffeine (EXP)

calcitriol (EXP)

carbon nanotube (ISO)

cefaloridine (ISO)

chlordecone (ISO)

cisplatin (ISO)

cordycepin (ISO)

cyclosporin A (EXP)

cytarabine (EXP)

dichloroacetic acid (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

entinostat (EXP)

fluoranthene (ISO)

folic acid (ISO)

glyphosate (ISO)

inulin (ISO)

lead(0) (EXP)

leflunomide (EXP)

methotrexate (ISO)

methylmercury chloride (EXP)

N-methyl-4-phenylpyridinium (EXP)

nickel atom (EXP)

nickel sulfate (EXP)

paracetamol (ISO)

PCB138 (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

pirinixic acid (EXP,ISO)

progesterone (ISO)

propiconazole (ISO)

SB 431542 (EXP)

sodium arsenate (EXP)

sodium arsenite (EXP,ISO)

tamoxifen (ISO)

temozolomide (EXP)

tert-butyl hydroperoxide (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

triclosan (EXP)

urethane (EXP)

valdecoxib (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

glomerular filtration (IEA,ISO)

negative regulation of stress fiber assembly (IBA,IDA)

signal transduction (IEA)

Cellular Component

cytoplasm (IEA)

cytosol (TAS)

perinuclear region of cytoplasm (IEA)

plasma membrane (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Acute myeloid leukemia (IAGP)

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:12221077	PMID:12473120	PMID:12477932	PMID:12773565	PMID:14702039	PMID:15489334	PMID:15761153	PMID:15778465	PMID:16777052	PMID:17353931	PMID:19011631	PMID:20437058
PMID:20501757	PMID:20530476	PMID:20638935	PMID:20648012	PMID:20659471	PMID:21071539	PMID:21873635	PMID:21988832	PMID:23251661	PMID:23774217	PMID:24737748	PMID:24836286
PMID:25071083	PMID:25799222	PMID:26186194	PMID:26349980	PMID:28514442	PMID:29117863	PMID:29949196	PMID:30639242	PMID:31847864	PMID:31871319	PMID:33637726	PMID:33864728
PMID:33877886	PMID:33961781	PMID:34382920	PMID:36210710

Genomics

Comparative Map Data

RHPN2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	32,978,592 - 33,064,888 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	32,978,592 - 33,064,888 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	33,469,498 - 33,555,794 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	38,161,338 - 38,247,634 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	38,161,338 - 38,247,634	NCBI
Celera	19	30,163,089 - 30,249,415 (-)	NCBI		Celera
Cytogenetic Map	19	q13.11	NCBI
HuRef	19	29,972,199 - 30,057,917 (-)	NCBI		HuRef
CHM1_1	19	33,470,602 - 33,556,906 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	35,497,266 - 35,583,576 (-)	NCBI		T2T-CHM13v2.0

Rhpn2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	35,033,605 - 35,091,712 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	35,033,595 - 35,091,714 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	35,334,180 - 35,392,287 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	35,334,170 - 35,392,289 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	36,119,256 - 36,177,306 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	35,043,084 - 35,101,045 (+)	NCBI		MGSCv36	mm8
Celera	7	30,472,818 - 30,530,787 (+)	NCBI		Celera
Cytogenetic Map	7	B2	NCBI
cM Map	7	21.36	NCBI

Rhpn2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	97,128,054 - 97,188,803 (+)	NCBI		GRCr8
mRatBN7.2	1	87,991,143 - 88,051,895 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	87,991,144 - 88,051,902 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	93,396,708 - 93,457,466 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	101,862,687 - 101,923,440 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	95,155,004 - 95,215,756 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	91,596,344 - 91,657,395 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	91,596,397 - 91,657,395 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	92,723,865 - 92,784,983 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	87,853,620 - 87,917,634 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	87,931,725 - 87,994,344 (+)	NCBI
Celera	1	82,340,832 - 82,401,614 (+)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Rhpn2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955468	4,932,384 - 4,977,982 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955468	4,932,437 - 4,976,584 (+)	NCBI	ChiLan1.0	ChiLan1.0

RHPN2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	38,951,991 - 39,038,892 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	40,951,145 - 41,038,007 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	29,901,608 - 29,988,476 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	38,645,218 - 38,713,614 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	38,646,620 - 38,713,626 (-)	Ensembl	panpan1.1		panPan2

RHPN2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	119,061,637 - 119,119,470 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	119,061,562 - 119,119,468 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	118,461,902 - 118,519,708 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	119,660,327 - 119,718,092 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	119,660,327 - 119,718,090 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	119,225,718 - 119,283,513 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	118,846,997 - 118,903,843 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	119,906,122 - 119,964,028 (+)	NCBI		UU_Cfam_GSD_1.0

Rhpn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	8,812,938 - 8,879,682 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936570	2,766,270 - 2,831,792 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936570	2,766,217 - 2,832,944 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RHPN2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	42,820,568 - 42,891,346 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	42,820,564 - 42,891,340 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	38,328,041 - 38,365,133 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RHPN2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	28,020,730 - 28,103,079 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	28,020,710 - 28,103,003 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	5,605,037 - 5,691,523 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rhpn2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624794	7,867,035 - 7,929,751 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624794	7,866,489 - 7,932,105 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RHPN2
48 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	copy number gain	See cases [RCV000050635]	Chr19:17176767..34924150 [GRCh38] Chr19:17287576..35415054 [GRCh37] Chr19:17148576..40106894 [NCBI36] Chr19:19p13.11-q13.11	pathogenic
NM_033103.4(RHPN2):c.360G>A (p.Thr120=)	single nucleotide variant	Malignant melanoma [RCV000072070]	Chr19:33021601 [GRCh38] Chr19:33512507 [GRCh37] Chr19:38204347 [NCBI36] Chr19:19q13.11	not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	copy number loss	See cases [RCV000135879]	Chr19:29661858..38114723 [GRCh38] Chr19:30152765..38605363 [GRCh37] Chr19:34844605..43297203 [NCBI36] Chr19:19q12-13.13	pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	copy number loss	See cases [RCV000136794]	Chr19:29671324..37902990 [GRCh38] Chr19:30162231..38393630 [GRCh37] Chr19:34854071..43085470 [NCBI36] Chr19:19q12-13.13	pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	copy number loss	See cases [RCV000141865]	Chr19:31367353..35417098 [GRCh38] Chr19:31858259..35908000 [GRCh37] Chr19:36550099..40599840 [NCBI36] Chr19:19q12-13.12	pathogenic
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	copy number gain	See cases [RCV000143705]	Chr19:27780238..34783942 [GRCh38] Chr19:28271146..35274846 [GRCh37] Chr19:32962986..39966686 [NCBI36] Chr19:19q11-13.11	uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	copy number gain	See cases [RCV000448231]	Chr19:30735448..36120396 [GRCh37] Chr19:19q12-13.12	pathogenic
NM_033103.5(RHPN2):c.1552C>T (p.Arg518Cys)	single nucleotide variant	not specified [RCV000454783]	Chr19:32991915 [GRCh38] Chr19:33482821 [GRCh37] Chr19:19q13.11	benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_033103.5(RHPN2):c.832G>A (p.Val278Met)	single nucleotide variant	not provided [RCV000959963]	Chr19:33002929 [GRCh38] Chr19:33493835 [GRCh37] Chr19:19q13.11	benign
NM_033103.5(RHPN2):c.469-4G>A	single nucleotide variant	not provided [RCV000939948]	Chr19:33011807 [GRCh38] Chr19:33502713 [GRCh37] Chr19:19q13.11	likely benign
NM_033103.5(RHPN2):c.1360T>G (p.Tyr454Asp)	single nucleotide variant	not provided [RCV000974311]	Chr19:32996086 [GRCh38] Chr19:33486992 [GRCh37] Chr19:19q13.11	benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NC_000019.9:g.(?_33167170)_(36643309_?)dup	duplication	Hereditary spastic paraplegia 75 [RCV003107659]	Chr19:33167170..36643309 [GRCh37] Chr19:19q13.11-13.12	uncertain significance
NM_033103.5(RHPN2):c.1024G>C (p.Ala342Pro)	single nucleotide variant	not provided [RCV000958012]	Chr19:33002328 [GRCh38] Chr19:33493234 [GRCh37] Chr19:19q13.11	benign
NC_000019.9:g.(?_33532300)_(33793320_?)dup	duplication	Acute myeloid leukemia [RCV001319704]	Chr19:33532300..33793320 [GRCh37] Chr19:19q13.11	uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	copy number gain	Specific learning disability [RCV001801194]	Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2	pathogenic
GRCh37/hg19 19q13.11(chr19:32827535-35263640)	copy number gain	not specified [RCV002052679]	Chr19:32827535..35263640 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1657C>T (p.Arg553Trp)	single nucleotide variant	Inborn genetic diseases [RCV003304946]	Chr19:32990657 [GRCh38] Chr19:33481563 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1300C>T (p.Arg434Trp)	single nucleotide variant	Inborn genetic diseases [RCV002778661]	Chr19:32996146 [GRCh38] Chr19:33487052 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.877G>A (p.Glu293Lys)	single nucleotide variant	Inborn genetic diseases [RCV002879764]	Chr19:33002884 [GRCh38] Chr19:33493790 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1307T>C (p.Ile436Thr)	single nucleotide variant	Inborn genetic diseases [RCV002924801]	Chr19:32996139 [GRCh38] Chr19:33487045 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1055A>G (p.Tyr352Cys)	single nucleotide variant	Inborn genetic diseases [RCV002888731]	Chr19:33002297 [GRCh38] Chr19:33493203 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.902G>A (p.Arg301Gln)	single nucleotide variant	Inborn genetic diseases [RCV002822906]	Chr19:33002859 [GRCh38] Chr19:33493765 [GRCh37] Chr19:19q13.11	likely benign
NM_033103.5(RHPN2):c.1825G>A (p.Val609Met)	single nucleotide variant	Inborn genetic diseases [RCV002915165]	Chr19:32980232 [GRCh38] Chr19:33471138 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.379G>A (p.Val127Ile)	single nucleotide variant	Inborn genetic diseases [RCV002641710]	Chr19:33021582 [GRCh38] Chr19:33512488 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1289G>T (p.Cys430Phe)	single nucleotide variant	Inborn genetic diseases [RCV002850135]	Chr19:32996157 [GRCh38] Chr19:33487063 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.199T>C (p.Ser67Pro)	single nucleotide variant	Inborn genetic diseases [RCV002769924]	Chr19:33026619 [GRCh38] Chr19:33517525 [GRCh37] Chr19:19q13.11	likely benign
NM_033103.5(RHPN2):c.1039G>A (p.Val347Met)	single nucleotide variant	Inborn genetic diseases [RCV002808738]	Chr19:33002313 [GRCh38] Chr19:33493219 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.2039A>G (p.Asn680Ser)	single nucleotide variant	Inborn genetic diseases [RCV002670422]	Chr19:32980018 [GRCh38] Chr19:33470924 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1280C>T (p.Ala427Val)	single nucleotide variant	Inborn genetic diseases [RCV002769647]	Chr19:32996166 [GRCh38] Chr19:33487072 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1274G>A (p.Arg425Gln)	single nucleotide variant	Inborn genetic diseases [RCV002896997]	Chr19:32996172 [GRCh38] Chr19:33487078 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1750G>T (p.Asp584Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002989531]	Chr19:32990564 [GRCh38] Chr19:33481470 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.139A>G (p.Ile47Val)	single nucleotide variant	Inborn genetic diseases [RCV002717582]	Chr19:33044295 [GRCh38] Chr19:33535201 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.155G>A (p.Arg52Gln)	single nucleotide variant	Inborn genetic diseases [RCV002960825]	Chr19:33044279 [GRCh38] Chr19:33535185 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.973C>T (p.His325Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002878607]	Chr19:33002379 [GRCh38] Chr19:33493285 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.296G>A (p.Gly99Asp)	single nucleotide variant	Inborn genetic diseases [RCV002655445]	Chr19:33026522 [GRCh38] Chr19:33517428 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1363G>A (p.Ala455Thr)	single nucleotide variant	Inborn genetic diseases [RCV003178147]	Chr19:32996083 [GRCh38] Chr19:33486989 [GRCh37] Chr19:19q13.11	likely benign
NM_033103.5(RHPN2):c.1012C>T (p.Pro338Ser)	single nucleotide variant	Inborn genetic diseases [RCV003191085]	Chr19:33002340 [GRCh38] Chr19:33493246 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1037G>A (p.Cys346Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003174672]	Chr19:33002315 [GRCh38] Chr19:33493221 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.811A>T (p.Met271Leu)	single nucleotide variant	Inborn genetic diseases [RCV003178934]	Chr19:33002950 [GRCh38] Chr19:33493856 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1349C>T (p.Ser450Phe)	single nucleotide variant	Inborn genetic diseases [RCV003198799]	Chr19:32996097 [GRCh38] Chr19:33487003 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1573G>A (p.Asp525Asn)	single nucleotide variant	Inborn genetic diseases [RCV003189041]	Chr19:32991894 [GRCh38] Chr19:33482800 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.2042C>T (p.Ser681Leu)	single nucleotide variant	Inborn genetic diseases [RCV003263317]	Chr19:32980015 [GRCh38] Chr19:33470921 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1034C>T (p.Ala345Val)	single nucleotide variant	Inborn genetic diseases [RCV003370785]	Chr19:33002318 [GRCh38] Chr19:33493224 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.1529G>A (p.Arg510Gln)	single nucleotide variant	Inborn genetic diseases [RCV003373176]	Chr19:32991938 [GRCh38] Chr19:33482844 [GRCh37] Chr19:19q13.11	uncertain significance
GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	copy number gain	not provided [RCV003485197]	Chr19:32052961..34144873 [GRCh37] Chr19:19q12-13.11	uncertain significance
GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3	copy number gain	not provided [RCV003485198]	Chr19:33301640..34007202 [GRCh37] Chr19:19q13.11	uncertain significance
NM_033103.5(RHPN2):c.948+8T>C	single nucleotide variant	not provided [RCV003425093]	Chr19:33002805 [GRCh38] Chr19:33493711 [GRCh37] Chr19:19q13.11	likely benign
NM_033103.5(RHPN2):c.652A>T (p.Ser218Cys)	single nucleotide variant	not provided [RCV003425094]	Chr19:33008122 [GRCh38] Chr19:33499028 [GRCh37] Chr19:19q13.11	likely benign
NM_033103.5(RHPN2):c.1479G>A (p.Thr493=)	single nucleotide variant	not provided [RCV003415183]	Chr19:32993995 [GRCh38] Chr19:33484901 [GRCh37] Chr19:19q13.11	likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	copy number gain	not specified [RCV003986115]	Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2	pathogenic
NM_033103.5(RHPN2):c.479C>T (p.Thr160Met)	single nucleotide variant	Inborn genetic diseases [RCV003307243]	Chr19:33011793 [GRCh38] Chr19:33502699 [GRCh37] Chr19:19q13.11	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2854
Count of miRNA genes:	995
Interacting mature miRNAs:	1183
Transcripts:	ENST00000254260, ENST00000400226, ENST00000544458, ENST00000585641, ENST00000588388, ENST00000588683, ENST00000591502, ENST00000592247
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.

Markers in Region

D19S555

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	33,480,934 - 33,481,129	UniSTS	GRCh37
Celera	19	30,174,494 - 30,174,697	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
HuRef	19	29,983,474 - 29,983,677	UniSTS
Marshfield Genetic Map	19	56.69	RGD
Marshfield Genetic Map	19	56.69	UniSTS

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

adipose tissue

appendage

entire extraembryonic component

High

Medium

736

448

415

195

281

1003

879

323

490

390

146

461

Low

1620

1754

1119

205

933

181

2320

1253

2826

951

1217

1089

1334

Below cutoff

1173

156

759

1032

907

993

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_033103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC011449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF268032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF423421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ347750	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026894	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL831950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC348657	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000254260 ⟹ ENSP00000254260

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	32,978,592 - 33,064,888 (-)	Ensembl

RefSeq Acc Id:

ENST00000544458

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	32,978,593 - 33,027,271 (-)	Ensembl

RefSeq Acc Id:

ENST00000585641

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	32,994,022 - 32,996,461 (-)	Ensembl

RefSeq Acc Id:

ENST00000588388 ⟹ ENSP00000465898

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	32,979,639 - 33,064,888 (-)	Ensembl

RefSeq Acc Id:

ENST00000588683

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	32,979,791 - 32,991,417 (-)	Ensembl

RefSeq Acc Id:

ENST00000591502

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	32,990,453 - 32,992,145 (-)	Ensembl

RefSeq Acc Id:

ENST00000592247

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	32,979,954 - 32,990,772 (-)	Ensembl

RefSeq Acc Id:

NM_033103 ⟹ NP_149094

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	32,978,592 - 33,064,888 (-)	NCBI
GRCh37	19	33,469,498 - 33,555,824 (-)	RGD
Build 36	19	38,161,338 - 38,247,634 (-)	NCBI Archive
Celera	19	30,163,089 - 30,249,415 (-)	RGD
HuRef	19	29,972,199 - 30,057,917 (-)	RGD
CHM1_1	19	33,470,602 - 33,556,906 (-)	NCBI
T2T-CHM13v2.0	19	35,497,266 - 35,583,576 (-)	NCBI

Sequence:

show sequence

AGTCCGCCGTCCGCCCTCCGCGCCCGCGCCGCTAGCATGACCGACGCGCTGTTGCCCGCGGCCC
CCCAGCCGCTGGAGAAGGAGAACGACGGCTACTTTCGGAAGGGCTGTAATCCCCTTGCACAAAC
CGGCCGGAGTAAATTGCAGAATCAAAGAGCTGCTTTGAATCAGCAGATCCTGAAAGCCGTGCGG
ATGAGGACCGGAGCGGAAAACCTTCTGAAAGTGGCCACAAACTCAAAGGTGCGGGAGCAAGTGC
GGCTGGAGCTGAGCTTCGTCAACTCAGACCTGCAGATGCTCAAGGAAGAGCTGGAGGGGCTGAA
CATCTCGGTGGGCGTCTATCAGAACACAGAGGAGGCATTTACGATTCCCCTGATTCCTCTTGGC
CTGAAGGAAACGAAAGACGTCGACTTTGCAGTCGTCCTCAAGGATTTTATCCTGGAACATTACA
GTGAAGATGGCTATTTATATGAAGATGAAATTGCAGATCTTATGGATCTGAGACAAGCTTGTCG
GACGCCTAGCCGGGATGAGGCCGGGGTGGAACTGCTGATGACATACTTCATCCAGCTGGGCTTT
GTCGAGAGTCGATTCTTCCCGCCCACACGGCAGATGGGACTCCTGTTCACCTGGTATGACTCTC
TCACCGGGGTTCCGGTCAGCCAGCAGAACCTGCTGCTGGAGAAGGCCAGTGTCCTGTTCAACAC
TGGGGCCCTCTACACCCAGATTGGGACCCGGTGTGATCGGCAGACGCAGGCTGGGCTGGAGAGT
GCCATAGATGCCTTTCAGAGAGCCGCAGGGGTTTTAAATTACCTGAAAGACACATTTACCCATA
CTCCAAGTTACGACATGAGCCCTGCCATGCTCAGCGTGCTCGTCAAAATGATGCTTGCACAAGC
CCAAGAAAGCGTGTTTGAGAAAATCAGCCTTCCTGGGATCCGGAATGAATTCTTCATGCTGGTG
AAGGTGGCTCAGGAGGCTGCTAAGGTGGGAGAGGTCTACCAACAGCTACACGCAGCCATGAGCC
AGGCGCCGGTGAAAGAGAACATCCCCTACTCCTGGGCCAGCTTAGCCTGCGTGAAGGCCCACCA
CTACGCGGCCCTGGCCCACTACTTCACTGCCATCCTCCTCATCGACCACCAGGTGAAGCCAGGC
ACGGATCTGGACCACCAGGAGAAGTGCCTGTCCCAGCTCTACGACCACATGCCAGAGGGGCTGA
CACCCTTGGCCACACTGAAGAATGATCAGCAGCGCCGACAGCTGGGGAAGTCCCACTTGCGCAG
AGCCATGGCTCATCACGAGGAGTCGGTGCGGGAGGCCAGCCTCTGCAAGAAGCTGCGGAGCATT
GAGGTGCTACAGAAGGTGCTGTGTGCCGCACAGGAACGCTCCCGGCTCACGTACGCCCAGCACC
AGGAGGAGGATGACCTGCTGAACCTGATCGACGCCCCCAGTGTTGTTGCTAAAACTGAGCAAGA
GGTTGACATTATATTGCCCCAGTTCTCCAAGCTGACAGTCACGGACTTCTTCCAGAAGCTGGGC
CCCTTATCTGTGTTTTCGGCTAACAAGCGGTGGACGCCTCCTCGAAGCATCCGCTTCACTGCAG
AAGAAGGGGACTTGGGGTTCACCTTGAGAGGGAACGCCCCCGTTCAGGTTCACTTCCTGGATCC
TTACTGCTCTGCCTCGGTGGCAGGAGCCCGGGAAGGAGATTATATTGTCTCCATTCAGCTTGTG
GATTGTAAGTGGCTGACGCTGAGTGAGGTTATGAAGCTGCTGAAGAGCTTTGGCGAGGACGAGA
TCGAGATGAAAGTCGTGAGCCTCCTGGACTCCACATCATCCATGCATAATAAGAGTGCCACATA
CTCCGTGGGAATGCAGAAAACGTACTCCATGATCTGCTTAGCCATTGATGATGACGACAAAACT
GATAAAACCAAGAAAATCTCCAAGAAGCTTTCCTTCCTGAGTTGGGGCACCAACAAGAACAGAC
AGAAGTCAGCCAGCACCTTGTGCCTCCCATCGGTCGGGGCTGCACGGCCTCAGGTCAAGAAGAA
GCTGCCCTCCCCTTTCAGCCTTCTCAACTCAGACAGTTCTTGGTACTAATGTGAGGAAACAAAC
ATGTTCAGGCCCTGAACATTTCCGGTGCTGACTCGGCCTTAAACGTTTGTGCCATAATGGAAAA
TATCTATCTATCTGTTCTCAAATCCTGTTTTTCTCATAGTGTAAACTCACATTTGATGTGTTTT
TATGAAGGAAAGTAACCAAGAAACCTCTAGGAATTAGTGAAAAAAGAACTTTTTTGAGGTGTGT
TACTATACTGCTGTAAGTTATTTATTATATAAAGTATTGTAAATAGAATAGTGTTGAAGATATG
AAATATGGCTATTTTTAATGGTGACAATTATGACTTTTAGTCACTATTAAATTGGGGTTACCTA
TATCAGTACAATTTGTAGTTGTTTCCAGGTTTGGCTAATAATCATTCCTTAACCTAGAATTCAG
ATGATCCTGGAATTAAGGCAGGTCAGAGGACTGTAATGATAGAATTAAATTAGTGTCACTAAAA
ACTGTCCCAAAGTGCTGCTTCCTAATAGGAATTCATTAACCTAAAACAAGATGTTACTATTATA
TCGATAGACTATGAATGCTATTTCTAGAAAAAGTCTAGTGCCAAATTTGTCTTATTAAATAAAA
ACAATGTAGGAGCAGCTTTTCTTCTAGTTTGATGTCATTTAAGAATTACTAACACAGTGGCAGT
GTTAGATGAAGATGCTGTCTACAAGGTAGATAATATACTGTTTGATACTCAAAACATTTTTCAT
TTTGTTTAAAGTAGAAGTTACATAATTCTATATTTTAAGTCTTGGGTAAAAAAGTAGTTTTACA
TTTTATAAAGTAAAGATGTAAATGATTCAGGTTTAAAGCTCTATTTGACTTCCTTTTTTTGTTT
GAGATAGCGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCAGTGCAAC
CTCCGCCCCCTGGGATCAAGCGATTCTCCTACCTCAGCCTCCCAAATAGCTGGGACTACAAGGT
GCCCTCCAGCATGCCTGGCTGATTTTTGTATTTTTAGTTGAGGTGAGGTTTCACCATGTTGGCC
AGGCGGGTTTCGAAATCCTGACCTCAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGAT
TACAGGCATGAGCCACCACAACCGTCCCACTATTTTACTTTTTAAAATGACATTCCTACTGATT
GATTTTTATCTTGCTATAAGTTCGATGACACCGTGAATCTAATAAGGTTCACTGTTGACACAGT
ACAAGTTACATAGCTAAAATACATAGCATTGAAGACTAATTTTAAGGATTGACAAGAGTTTATT
TTCTATTGTGCAATATCTTAAAGGAAGCAACCACCTTTGGGAAAGTGTATCTGCTGCTCCTAGG
GCCATGCTTGTATACATATTTAAATAAACATATTCATTTACCCGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_149094	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH36447	(Get FASTA)	NCBI Sequence Viewer
	AAK58588	(Get FASTA)	NCBI Sequence Viewer
	AAQ04062	(Get FASTA)	NCBI Sequence Viewer
	BAC04471	(Get FASTA)	NCBI Sequence Viewer
	BAG37565	(Get FASTA)	NCBI Sequence Viewer
	BAG53600	(Get FASTA)	NCBI Sequence Viewer
	BAG54339	(Get FASTA)	NCBI Sequence Viewer
	BAG62439	(Get FASTA)	NCBI Sequence Viewer
	CAC87939	(Get FASTA)	NCBI Sequence Viewer
	CAD38597	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000254260
	ENSP00000254260.2
	ENSP00000465898.1
GenBank Protein	Q8IUC4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_149094 ⟸ NM_033103

- UniProtKB:

A8MT19 (UniProtKB/Swiss-Prot), Q8NE33 (UniProtKB/Swiss-Prot), Q8N9D6 (UniProtKB/Swiss-Prot), Q8N3T7 (UniProtKB/Swiss-Prot), B4DUS7 (UniProtKB/Swiss-Prot), B3KUY8 (UniProtKB/Swiss-Prot), B2RCG8 (UniProtKB/Swiss-Prot), Q96RU1 (UniProtKB/Swiss-Prot), Q8IUC4 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MTDALLPAAPQPLEKENDGYFRKGCNPLAQTGRSKLQNQRAALNQQILKAVRMRTGAENLLKVA
TNSKVREQVRLELSFVNSDLQMLKEELEGLNISVGVYQNTEEAFTIPLIPLGLKETKDVDFAVV
LKDFILEHYSEDGYLYEDEIADLMDLRQACRTPSRDEAGVELLMTYFIQLGFVESRFFPPTRQM
GLLFTWYDSLTGVPVSQQNLLLEKASVLFNTGALYTQIGTRCDRQTQAGLESAIDAFQRAAGVL
NYLKDTFTHTPSYDMSPAMLSVLVKMMLAQAQESVFEKISLPGIRNEFFMLVKVAQEAAKVGEV
YQQLHAAMSQAPVKENIPYSWASLACVKAHHYAALAHYFTAILLIDHQVKPGTDLDHQEKCLSQ
LYDHMPEGLTPLATLKNDQQRRQLGKSHLRRAMAHHEESVREASLCKKLRSIEVLQKVLCAAQE
RSRLTYAQHQEEDDLLNLIDAPSVVAKTEQEVDIILPQFSKLTVTDFFQKLGPLSVFSANKRWT
PPRSIRFTAEEGDLGFTLRGNAPVQVHFLDPYCSASVAGAREGDYIVSIQLVDCKWLTLSEVMK
LLKSFGEDEIEMKVVSLLDSTSSMHNKSATYSVGMQKTYSMICLAIDDDDKTDKTKKISKKLSF
LSWGTNKNRQKSASTLCLPSVGAARPQVKKKLPSPFSLLNSDSSWY

hide sequence

RefSeq Acc Id:

ENSP00000254260 ⟸ ENST00000254260

RefSeq Acc Id:

ENSP00000465898 ⟸ ENST00000588388

Protein Domains

BRO1 PDZ REM-1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IUC4-F1-model_v2	AlphaFold	Q8IUC4	1-686	view protein structure

Promoters

RGD ID:

7239405

Promoter ID:

EPDNEW_H25448

Type:

initiation region

Name:

RHPN2_1

Description:

rhophilin Rho GTPase binding protein 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	33,064,888 - 33,064,948	EPDNEW

RGD ID:

6795989

Promoter ID:

HG_KWN:29542

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

UC002NUF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	38,247,374 - 38,247,874 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19974	AgrOrtholog
COSMIC	RHPN2	COSMIC
Ensembl Genes	ENSG00000131941	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000254260	ENTREZGENE
	ENST00000254260.8	UniProtKB/Swiss-Prot
	ENST00000588388.5	UniProtKB/TrEMBL
Gene3D-CATH	1.25.40.280	UniProtKB/Swiss-Prot
	2.30.42.10	UniProtKB/Swiss-Prot
	HR1 repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000131941	GTEx
HGNC ID	HGNC:19974	ENTREZGENE
Human Proteome Map	RHPN2	Human Proteome Map
InterPro	BRO1_dom	UniProtKB/Swiss-Prot
	BRO1_sf	UniProtKB/Swiss-Prot
	HR1_rho-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HR1_rpt_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PDZ	UniProtKB/Swiss-Prot
	PDZ_sf	UniProtKB/Swiss-Prot
	Rhophilin-2_HR1	UniProtKB/Swiss-Prot
	RHPN1_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RHPN2_BRO1	UniProtKB/Swiss-Prot
KEGG Report	hsa:85415	UniProtKB/Swiss-Prot
NCBI Gene	85415	ENTREZGENE
OMIM	617932	OMIM
PANTHER	RHOPHILIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RHOPHILIN-2-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	BRO1	UniProtKB/Swiss-Prot
	HR1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134979284	PharmGKB
PROSITE	BRO1	UniProtKB/Swiss-Prot
	REM_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	BRO1	UniProtKB/Swiss-Prot
	Hr1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PDZ	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46585	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF50156	UniProtKB/Swiss-Prot
UniProt	A8MT19	ENTREZGENE
	B2RCG8	ENTREZGENE
	B3KUY8	ENTREZGENE
	B4DUS7	ENTREZGENE
	K7EL35_HUMAN	UniProtKB/TrEMBL
	Q8IUC4	ENTREZGENE
	Q8N3T7	ENTREZGENE
	Q8N9D6	ENTREZGENE
	Q8NE33	ENTREZGENE
	Q96RU1	ENTREZGENE
	RHPN2_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2RCG8	UniProtKB/Swiss-Prot
	B3KUY8	UniProtKB/Swiss-Prot
	B4DUS7	UniProtKB/Swiss-Prot
	Q8N3T7	UniProtKB/Swiss-Prot
	Q8N9D6	UniProtKB/Swiss-Prot
	Q8NE33	UniProtKB/Swiss-Prot
	Q96RU1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-07-05	RHPN2	rhophilin Rho GTPase binding protein 2	RHPN2	rhophilin, Rho GTPase binding protein 2	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - ClinVar