RHOH (ras homolog family member H)

Gene

• Entrez ID: 399
• Gene name: Ras homolog family member H
• Gene symbol: RHOH
• Synonyms (NCBI Gene): 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:0000166	Function	Nucleotide binding	IEA
GO:0001772	Component	Immunological synapse	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005095	Function	GTPase inhibitor activity	NAS	11809807
GO:0005515	Function	Protein binding	IPI	11809807, 32296183
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	11809807
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	11809807
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	11809807
GO:0007015	Process	Actin filament organization	IBA
GO:0007165	Process	Signal transduction	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0019210	Function	Kinase inhibitor activity	IDA	11809807
GO:0019901	Function	Protein kinase binding	IBA
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	NAS	11809807
GO:0031267	Function	Small GTPase binding	NAS	11809807
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	11809807
GO:0045576	Process	Mast cell activation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IMP	22850876

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

• Tissue specificity: TISSUE SPECIFICITY: Expressed only in hematopoietic cells. Present at very high levels in the thymus, less abundant in the spleen, and least abundant in the bone marrow. Expressed at a higher level in the TH1 subtype of T-helper cells than in the TH2 subp
• Sequence:

  MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTA
  GNDAFRSIRPLSYQQADVVLMCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQ
  REMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQQVFECAVRTAVNQARRRNRR
  RLFSINECKIF

• Sequence length: 191

Pathways

KEGG:

Leukocyte transendothelial migration
Salmonella infection

Reactome:

Rho GTPase cycle

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN THYROID GLAND NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMODYSPLASIA VERRUCIFORMIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermodysplasia verruciformis, susceptibility to, 4	Likely benign; no classifications from unflagged records	ClinVar ClinGen, ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GRAVES DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 129	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHOH-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
T-cell immunodeficiency with epidermodysplasia verruciformis	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	16614247		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17443219, 17476282		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31672930	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16541139		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31842288		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	24189071		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30234227		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	11460166, 17018394, 19019431		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	22850876, 22952854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	GENOMICS_ENGLAND_DG	24189071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hairy Cell Leukemia	Hairy Cell Leukemia	LHGDN	18559497		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	21473742		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	16614247		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23850828		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21473742		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	14592832, 15914563, 16156859	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15914563		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	17018394, 18945749, 19019431		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10803463		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	22850876		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	9226377		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	19019431		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26004609	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10803463		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20433995		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30956278		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28349943		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28538407		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-cell immunodeficiency with epidermodysplasia verruciformis	T-Cell Immunodeficiency With Epidermodysplasia Verruciformis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations