Property Summary

NCBI Gene PubMed Count 9
PubMed Score 5.71
PubTator Score 1.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
osteosarcoma 7933 7.27939383942756E-7
group 3 medulloblastoma 2254 9.77658447936388E-4
Disease Target Count Z-score Confidence
Skull base meningioma 3 5.046 2.5
Panhypopituitarism 11 3.371 1.7

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.870 0.000
group 3 medulloblastoma 1.100 0.001

Synonym

Accession Q6PII3 Q96CS5
Symbols IHPM
IHPMR
C3orf19
HSPC212

Gene

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG
Fruitfly EggNOG Inparanoid

Gene RIF (2)

PMID Text
26358778 We showed that CCDC174 is ubiquitous, restricted to the cell nucleus and co-localized with EIF4A3, the CCDC174 mutation caused depletion of RYR1 and marked myopathic changes in skeletal muscle of affected individuals
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MDRRKKPLDVTASSLVDLKAELFRKQEEFKQEKLLKDSGVFGKPKTTNKKPSIWSKQNVGVSNRAEKDAE      1 - 70
QKIEEQKTLDKAREKLEEKAKLYEKMTKGDFIDEEVEDMYLVDFTQKIIDKRKEMEASGAHRDSQKAGER     71 - 140
DDDEENLPEGEIPPPQDPSEEWVDYVDSLGRSRRCMRKDLPDLLEMDKNLQGRLFISPANEKTLLSEDMR    141 - 210
KELQRQQWEEEEREALKRPMGPVHYEDIRENEARQLGVGYFAFARDKELRNKQMKTLEMLREQTTDQRTK    211 - 280
RENIKEKRKAILEARLAKLRQKKMKKSKEGGTEEENRDGDVIGPLPPEPEAVPTPRPAAQSSKVEVIVQE    281 - 350
RKDTKPGVPHIREWDRGKEFSFGYWSKRQSDLRAERDPEFAPPSDYFVGQKRTGFSSSQAWSRPGPAQSD    351 - 420
PGQCPDQSHGPSPEHTSPTPAPDNPPQAPTVTFKTLDDMISYYKQVT                           421 - 467
//

Text Mined References (11)

PMID Year Title
26358778 2015 CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
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