RHOH (ras homolog family member H)

Gene

• Entrez ID: 399
• Gene name: Ras homolog family member H
• Gene symbol: RHOH
• Synonyms: ARHH, IMD129, TTF
• Chromosome: 4
• Chromosome location: 4p14
• Summary: The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs773779601	C>G,T	Risk-factor	Coding sequence variant, synonymous variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053367	hsa-miR-9-5p	Microarray, qRT-PCR	23798388
MIRT721874	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT721873	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT721872	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT721871	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT721870	hsa-miR-676-5p	HITS-CLIP	19536157
MIRT721869	hsa-miR-7159-5p	HITS-CLIP	19536157
MIRT721868	hsa-miR-505-3p	HITS-CLIP	19536157
MIRT721867	hsa-miR-421	HITS-CLIP	19536157
MIRT721866	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT709509	hsa-miR-3609	HITS-CLIP	19536157
MIRT709508	hsa-miR-548ah-5p	HITS-CLIP	19536157
MIRT709507	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT709506	hsa-miR-520h	HITS-CLIP	19536157
MIRT709505	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT709504	hsa-miR-340-3p	HITS-CLIP	19536157
MIRT709503	hsa-miR-6827-3p	HITS-CLIP	19536157
MIRT709502	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT709501	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT709500	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT709499	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT691959	hsa-miR-590-3p	HITS-CLIP	23313552
MIRT691958	hsa-miR-455-5p	HITS-CLIP	23313552
MIRT691957	hsa-miR-500b-3p	HITS-CLIP	23313552
MIRT691956	hsa-miR-4735-5p	HITS-CLIP	23313552
MIRT691955	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT691954	hsa-miR-4775	HITS-CLIP	23313552
MIRT691953	hsa-miR-4715-3p	HITS-CLIP	23313552
MIRT691952	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT731229	hsa-miR-365a-3p	qRT-PCR	26337230
MIRT731229	hsa-miR-365a-3p	qRT-PCR	26337230
MIRT721874	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT721873	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT721872	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT721871	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT721870	hsa-miR-676-5p	HITS-CLIP	19536157
MIRT721869	hsa-miR-7159-5p	HITS-CLIP	19536157
MIRT721868	hsa-miR-505-3p	HITS-CLIP	19536157
MIRT721867	hsa-miR-421	HITS-CLIP	19536157
MIRT721866	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT709509	hsa-miR-3609	HITS-CLIP	19536157
MIRT709508	hsa-miR-548ah-5p	HITS-CLIP	19536157
MIRT709507	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT709506	hsa-miR-520h	HITS-CLIP	19536157
MIRT709505	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT709504	hsa-miR-340-3p	HITS-CLIP	19536157
MIRT709503	hsa-miR-6827-3p	HITS-CLIP	19536157
MIRT709502	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT709501	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT709500	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT709499	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT691959	hsa-miR-590-3p	HITS-CLIP	23313552
MIRT691958	hsa-miR-455-5p	HITS-CLIP	23313552
MIRT691957	hsa-miR-500b-3p	HITS-CLIP	23313552
MIRT691956	hsa-miR-4735-5p	HITS-CLIP	23313552
MIRT691955	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT691954	hsa-miR-4775	HITS-CLIP	23313552
MIRT691953	hsa-miR-4715-3p	HITS-CLIP	23313552
MIRT691952	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT1305980	hsa-miR-513a-3p	CLIP-seq
MIRT1305981	hsa-miR-660	CLIP-seq
MIRT2090632	hsa-miR-1305	CLIP-seq
MIRT2090633	hsa-miR-140-5p	CLIP-seq
MIRT2090634	hsa-miR-4480	CLIP-seq
MIRT2090635	hsa-miR-4709-5p	CLIP-seq
MIRT2315303	hsa-miR-1825	CLIP-seq
MIRT2315304	hsa-miR-199a-5p	CLIP-seq
MIRT2315305	hsa-miR-199b-5p	CLIP-seq
MIRT2315306	hsa-miR-3606	CLIP-seq
MIRT2315307	hsa-miR-3677-5p	CLIP-seq
MIRT2315308	hsa-miR-3926	CLIP-seq
MIRT2315309	hsa-miR-4280	CLIP-seq
MIRT2315310	hsa-miR-4307	CLIP-seq
MIRT2315311	hsa-miR-4703-3p	CLIP-seq
MIRT2315312	hsa-miR-548s	CLIP-seq
MIRT2315313	hsa-miR-570	CLIP-seq
MIRT2315314	hsa-miR-921	CLIP-seq
MIRT2393716	hsa-miR-1290	CLIP-seq
MIRT2393717	hsa-miR-193a-3p	CLIP-seq
MIRT2393718	hsa-miR-193b	CLIP-seq
MIRT2393719	hsa-miR-4263	CLIP-seq
MIRT2393720	hsa-miR-576-5p	CLIP-seq
MIRT2393721	hsa-miR-582-3p	CLIP-seq
MIRT2689755	hsa-miR-1343	CLIP-seq
MIRT2689756	hsa-miR-3074-5p	CLIP-seq
MIRT2689757	hsa-miR-3124-3p	CLIP-seq
MIRT2689758	hsa-miR-3591-3p	CLIP-seq
MIRT2315313	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001772	Component	Immunological synapse	IEA
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005095	Function	GTPase inhibitor activity	NAS	11809807
GO:0005515	Function	Protein binding	IPI	11809807, 32296183
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005525	Function	GTP binding	IDA	11809807
GO:0005737	Component	Cytoplasm	IDA	11809807
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IBA	21873635
GO:0006355	Process	Regulation of transcription, DNA-templated	NAS	11809807
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA	21873635
GO:0008045	Process	Motor neuron axon guidance	IBA	21873635
GO:0008360	Process	Regulation of cell shape	IBA	21873635
GO:0016601	Process	Rac protein signal transduction	IBA	21873635
GO:0019210	Function	Kinase inhibitor activity	IDA	11809807
GO:0019901	Function	Protein kinase binding	IBA	21873635
GO:0030031	Process	Cell projection assembly	IBA	21873635
GO:0030217	Process	T cell differentiation	NAS	11809807
GO:0030865	Process	Cortical cytoskeleton organization	IBA	21873635
GO:0031267	Function	Small GTPase binding	NAS	11809807
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA	21873635
GO:0033673	Process	Negative regulation of kinase activity	IEA
GO:0034260	Process	Negative regulation of GTPase activity	IEA
GO:0042995	Component	Cell projection	IBA	21873635
GO:0043124	Process	Negative regulation of I-kappaB kinase/NF-kappaB signaling	IDA	11809807
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043652	Process	Engulfment of apoptotic cell	IBA	21873635
GO:0045576	Process	Mast cell activation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IMP	22850876
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:1902622	Process	Regulation of neutrophil migration	IBA	21873635

Other IDs

• MIM: 602037
• HGNC: 686
• e!Ensembl: ENSG00000168421

Protein

• UniProt ID: Q15669
• Protein name: Rho-related GTP-binding protein RhoH (GTP-binding protein TTF) (Translocation three four protein)
• Protein function: Negative regulator of hematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signaling by mediating recruitment and activation of ZAP70. Required for pho
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	6 → 172	Ras family	Domain

• Sequence:

  MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTA
  GNDAFRSIRPLSYQQADVVLMCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQ
  REMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQQVFECAVRTAVNQARRRNRR
  RLFSINECKIF

• Sequence length: 191

Pathways

KEGG:

Leukocyte transendothelial migration
Salmonella infection

Reactome:

Rho GTPase cycle

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684
Epidermodysplasia verruciformis	Epidermodysplasia Verruciformis	rs121908330, rs121908327, rs121908328, rs121908329, rs769471844, rs1555655146, rs1567989416, rs1567997496, rs1323557941, rs1567068388, rs1351703532, rs143773090, rs1567069906, rs1567799639, rs773779601, rs1598895511, rs1598923748, rs1486611027, rs1392702424, rs202217062	24189071
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	24189071

Unknown
Disease name	Disease term	dbSNP ID	References
Stomatitis	Stomatitis
T-cell immunodeficiency with epidermodysplasia verruciformis	T-cell immunodeficiency with epidermodysplasia verruciformis	rs76788449, rs757821004, rs114176176, rs61731758, rs1000856485, rs372713940, rs114085656, rs774982598, rs1579353654, rs772482266, rs1729532222