Property Summary

NCBI Gene PubMed Count 11
PubMed Score 39.53
PubTator Score 7.39

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
non-small cell lung cancer 2798 1.20376334596993E-12
posterior fossa group A ependymoma 1511 9.78209002413317E-7
malignant mesothelioma 3163 2.68971139324035E-6
pilocytic astrocytoma 3086 3.6181004431156E-6
glioblastoma 5572 1.33190968561776E-5
atypical teratoid / rhabdoid tumor 4369 3.40056287887555E-5
lung cancer 4473 1.1056921422959E-4
ovarian cancer 8492 5.53214019917647E-4
adult high grade glioma 2148 5.53781837479543E-4
medulloblastoma, large-cell 6234 7.84452602714436E-4
psoriasis 6685 0.00161305157476283
osteosarcoma 7933 0.00611364264500528
subependymal giant cell astrocytoma 2287 0.0079340126007622
hereditary spastic paraplegia 313 0.0170010919171092
spina bifida 1064 0.0218452876494595
ulcerative colitis 2087 0.0335424412527416
astrocytic glioma 2241 0.0451646018831413
Disease Target Count Z-score Confidence
Lissencephaly 61 4.653 2.3
Patent ductus arteriosus 23 3.016 1.5

Expression

  Differential Expression (17)

Disease log2 FC p
malignant mesothelioma 1.200 0.000
astrocytic glioma -1.500 0.045
psoriasis -1.300 0.002
osteosarcoma -1.328 0.006
posterior fossa group A ependymoma -1.200 0.000
glioblastoma -1.600 0.000
atypical teratoid / rhabdoid tumor -1.600 0.000
medulloblastoma, large-cell 1.200 0.001
ulcerative colitis -1.527 0.034
hereditary spastic paraplegia -1.145 0.017
non-small cell lung cancer 1.075 0.000
lung cancer 1.500 0.000
adult high grade glioma -1.400 0.001
pilocytic astrocytoma -1.600 0.000
subependymal giant cell astrocytoma -2.125 0.008
spina bifida -1.582 0.022
ovarian cancer -1.200 0.001

Synonym

Accession Q9H871 D6W5M6 Q6NTF0 Q9H6W5 Q9H9H2
Symbols CTLH
GID2
RMD5
GID2A
p44CTLH

Gene

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG

Gene RIF (3)

PMID Text
24057215 The study identifies a miR-138-RMND5A-Exportin-5 as a previously unknown miRNA processing regulatory pathway in HeLa cells.
22681319 Duplications of this region involving RMND5A, whose product contains a C-terminal to lis homology (LisH) domain, have not previously been associated with a defined phenotype but may present insight into encephalocele formation.
17467196 RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells.

AA Sequence

MDQCVTVERELEKVLHKFSGYGQLCERGLEELIDYTGGLKHEILQSHGQDAELSGTLSLVLTQCCKRIKD      1 - 70
TVQKLASDHKDIHSSVSRVGKAIDKNFDSDISSVGIDGCWQADSQRLLNEVMVEHFFRQGMLDVAEELCQ     71 - 140
ESGLSVDPSQKEPFVELNRILEALKVRVLRPALEWAVSNREMLIAQNSSLEFKLHRLYFISLLMGGTTNQ    141 - 210
REALQYAKNFQPFALNHQKDIQVLMGSLVYLRQGIENSPYVHLLDANQWADICDIFTRDACALLGLSVES    211 - 280
PLSVSFSAGCVALPALINIKAVIEQRQCTGVWNQKDELPIEVDLGKKCWYHSIFACPILRQQTTDNNPPM    281 - 350
KLVCGHIISRDALNKMFNGSKLKCPYCPMEQSPGDAKQIFF                                 351 - 391
//

Text Mined References (12)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24057215 2014 MiR-138 downregulates miRNA processing in HeLa cells by targeting RMND5A and decreasing Exportin-5 stability.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22681319 2012 Novel neurodevelopmental disorder in the case of a giant occipitoparietal meningoencephalocele.
17467196 2007 RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex.
17452337 2007 ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
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