Gene Gene information from NCBI Gene database.
Entrez ID 399
Gene name Ras homolog family member H
Gene symbol RHOH
Synonyms (NCBI Gene)
ARHHIMD129TTF
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 information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs773779601 C>G,T Risk-factor Coding sequence variant, synonymous variant, stop gained
miRNA miRNA information provided by mirtarbase database.
88
miRTarBase ID miRNA Experiments Reference
MIRT053367 hsa-miR-9-5p MicroarrayqRT-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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602037 686 ENSG00000168421
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 191
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Leukocyte transendothelial migration
Salmonella infection
  Rho GTPase cycle
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
73
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epidermodysplasia verruciformis, susceptibility to, 4 Likely benign; no classifications from unflagged records rs76788449, rs773779601 RCV002497200
RCV000754772
RHOH-related disorder Likely benign; Benign rs146170789, rs114176176, rs61731758 RCV003977074
RCV003925736
RCV003928146
T-cell immunodeficiency with epidermodysplasia verruciformis Uncertain significance; Likely benign; Benign rs200579964, rs750167394, rs1244021714, rs758225526, rs773671410, rs1391559187, rs368977127, rs371722683, rs2109593740, rs1346989432, rs768275793, rs145528494, rs767409335, rs777698365, rs115314968
View all (49 more)
RCV001314814
RCV001325142
RCV001365705
RCV001404837
RCV001429715
RCV001445525
RCV001461825
RCV001454653
RCV001453614
RCV001500843
RCV001481861
RCV001485678
RCV001989660
RCV001911673
RCV001958395
RCV001911921
RCV001915876
RCV002025173
RCV001880407
RCV001886497
RCV001983924
RCV001955500
RCV002041078
RCV002132604
RCV002079064
RCV002090501
RCV002115128
RCV002081739
RCV002120906
RCV002301908
RCV003074516
RCV002632877
RCV003116947
RCV002612782
RCV002614543
RCV002720534
RCV002701432
RCV002726782
RCV002820008
RCV002806566
RCV002876545
RCV002890403
RCV002994024
RCV003030775
RCV003038009
RCV003047941
RCV003595498
RCV003760657
RCV003760905
RCV003758347
RCV003759440
RCV003833451
RCV003845744
RCV000556395
RCV000549472
RCV000537125
RCV000655221
RCV000655222
RCV000700288
RCV000792176
RCV000882353
RCV000902919
RCV001406537
RCV001402013
RCV001044000
RCV001215517
RCV001212989
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36710485
Carcinoma Renal Cell Associate 31672930
Lymphoma Associate 14592832, 15914563, 16156859
Lymphoma Non Hodgkin Associate 12714522
Metabolic Syndrome Associate 26004609
Neoplasms Associate 30199148, 31881847