Property Summary

NCBI Gene PubMed Count 16
Grant Count 1
Funding $20,923.33
PubMed Score 46.47
PubTator Score 15.78

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (4)

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -2.807 0.000
gastric carcinoma 1.100 0.042

Synonym

Accession O60826 A8K7G1
Symbols JM1
RTSC2
CXorf37

Gene

 Grant Application (1)

Gene RIF (8)

PMID Text
26965651 CCDC22 mutation is associated with hypercholesterolemia.
24916641 Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
23563313 CCDC22 participates in NF-kappaB activation and its deficiency leads to decreased IkappaB turnover
21826058 This study demonistrated that CCDC22 is a novel candidate gene for syndromic X-linked intellectual disability.
20398921 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
19204726 Observational study of gene-disease association. (HuGE Navigator)
12522145 Identifies the homologous mouse protein as a copine-binding protein.

AA Sequence

MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMS      1 - 70
LAQACMDLGYPLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLAL     71 - 140
PWVPPHLRTPKLQHLQGSALQKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHH    141 - 210
ALQLCQQTGRDRPGDEDWVHRTSRLPPQEDTRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWG    211 - 280
AGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDVPATSRRPEQVTWAAQEQELESLREQLEGVNRSIEE    281 - 350
VEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLAKLQLVVENSAQRVIHLAGQ    351 - 420
WEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSELETLPRDVSR    421 - 490
LAYTQRILEIVGNIRKQKEEITKILSDTKELQKEINSLSGKLDRTFAVTDELVFKDAKKDDAVRKAYKYL    491 - 560
AALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTLSNLEKIREDYRALRQENAGLLGRVREA       561 - 627
//

Text Mined References (22)

PMID Year Title
26965651 2016 CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
25355947 2015 COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.
24916641 2015 Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23563313 2013 CCDC22 deficiency in humans blunts activation of proinflammatory NF-?B signaling.
23092983 2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
21826058 2012 CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.
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