Property Summary

NCBI Gene PubMed Count 7
PubMed Score 1.75
PubTator Score 1.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Synonym

Accession Q9NPI0 A6NGA7 B4E044 Q5JPE1
Symbols HSPC196

Gene

Gene RIF (1)

PMID Text
22282472 study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region

AA Sequence

MLQTSNYSLVLSLQFLLLSYDLFVNSFSELLQKTPVIQLVLFIIQDIAVLFNIIIIFLMFFNTFVFQAGL      1 - 70
VNLLFHKFKGTIILTAVYFALSISLHVWVMNLRWKNSNSFIWTDGLQMLFVFQRLAAVLYCYFYKRTAVR     71 - 140
LGDPHFYQDSLWLRKEFMQVRR                                                    141 - 162
//

Text Mined References (8)

PMID Year Title
22282472 2012 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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.