Property Summary

NCBI Gene PubMed Count 17
PubMed Score 26.55
PubTator Score 47.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
Chronic Lymphocytic Leukemia -1.340 0.005
malignant mesothelioma -2.400 0.000
psoriasis 1.600 0.001
pancreatic ductal adenocarcinoma liver m... 1.385 0.002
breast carcinoma 1.100 0.016
group 4 medulloblastoma -1.100 0.002
invasive ductal carcinoma 1.024 0.002
ovarian cancer 1.400 0.000
Breast cancer 1.300 0.000

Synonym

Accession Q6PJF5 A6NEM3 A8K801 Q5U607 Q5YGQ8 Q9H6E9 iRhom2
Symbols TEC
TOC
TOCG
RHBDL5
RHBDL6
iRhom2

Gene

PANTHER Protein Class (3)

Pathway (1)

Gene RIF (8)

PMID Text
26535007 results explain how loss of the amino terminus in iRhom1 and iRhom2 impairs TNF signaling, despite enhancing ADAM17 activity
25129075 Our analyses suggest that these DNA methylation changes may have a role in the onset of Alzheimer disease given that we observed them in presymptomatic subjects and that six of the validated genes connect to a known susceptibility gene network.
24643277 Tylosis with oesophageal cancer-associated mutations in iRHOM2 cause an increase in the maturation and activity of ADAM17 in epidermal keratinocytes.
22638770 Identification of a new missense mutation, p.Asp188Asn, segregating with tylosis with esophageal cancer in a Finnish family, and interestingly the detected mutation alters a codon located between the two previously reported mutation sites.
22344671 RHBDF2 and CYGB may play distinctive roles in ovarian cancer and could be added to the growing roster of chromosome 17 genes implicated in this disease.
22265016 The distribution of RHBDF2 in tylotic skin is altered in comparison with that in normal skin.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MASADKNGGSVSSVSSSRLQSRKPPNLSITIPPPEKETQAPGEQDSMLPEGFQNRRLKKSQPRTWAAHTT      1 - 70
ACPPSFLPKRKNPAYLKSVSLQEPRSRWQESSEKRPGFRRQASLSQSIRKGAAQWFGVSGDWEGQRQQWQ     71 - 140
RRSLHHCSMRYGRLKASCQRDLELPSQEAPSFQGTESPKPCKMPKIVDPLARGRAFRHPEEMDRPHAPHP    141 - 210
PLTPGVLSLTSFTSVRSGYSHLPRRKRMSVAHMSLQAAAALLKGRSVLDATGQRCRVVKRSFAFPSFLEE    211 - 280
DVVDGADTFDSSFFSKEEMSSMPDDVFESPPLSASYFRGIPHSASPVSPDGVQIPLKEYGRAPVPGPRRG    281 - 350
KRIASKVKHFAFDRKKRHYGLGVVGNWLNRSYRRSISSTVQRQLESFDSHRPYFTYWLTFVHVIITLLVI    351 - 420
CTYGIAPVGFAQHVTTQLVLRNKGVYESVKYIQQENFWVGPSSIDLIHLGAKFSPCIRKDGQIEQLVLRE    421 - 490
RDLERDSGCCVQNDHSGCIQTQRKDCSETLATFVKWQDDTGPPMDKSDLGQKRTSGAVCHQDPRTCEEPA    491 - 560
SSGAHIWPDDITKWPICTEQARSNHTGFLHMDCEIKGRPCCIGTKGSCEITTREYCEFMHGYFHEEATLC    561 - 630
SQVHCLDKVCGLLPFLNPEVPDQFYRLWLSLFLHAGVVHCLVSVVFQMTILRDLEKLAGWHRIAIIFILS    631 - 700
GITGNLASAIFLPYRAEVGPAGSQFGLLACLFVELFQSWPLLERPWKAFLNLSAIVLFLFICGLLPWIDN    701 - 770
IAHIFGFLSGLLLAFAFLPYITFGTSDKYRKRALILVSLLAFAGLFAALVLWLYIYPINWPWIEHLTCFP    771 - 840
FTSRFCEKYELDQVLH                                                          841 - 856
//

Text Mined References (23)

PMID Year Title
26535007 2015 Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17.
25129075 2014 Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci.
24643277 2014 iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22638770 2012 Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.
22344671 2012 Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer.
22265016 2012 RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
More...