Property Summary

NCBI Gene PubMed Count 10
Grant Count 3
R01 Count 3
Funding $142,226.11
PubMed Score 5.30
PubTator Score 5.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma -1.366 0.001
posterior fossa group B ependymoma 4.100 0.000
lung adenocarcinoma -1.600 0.000
atypical teratoid/rhabdoid tumor 1.100 0.002
nasopharyngeal carcinoma -2.600 0.000
lung carcinoma -1.200 0.004
non-small cell lung carcinoma -1.300 0.000

Synonym

Accession Q5TD94 B4DSI1 Q3KP24 Q5TD95
Symbols RSHL3
CILD11
RSPH6B
dJ412I7.1

Gene

Gene RIF (3)

PMID Text
25789548 Absence of RSPH4A due to mutations in RSPH4A results in deficient axonemal assembly of the RS head components RSPH1 and RSPH9.
23798057 the c.921+3_6delAAGT splice site mutation in RSPH4A is a founder mutation that is a common cause of PCD without situs abnormalities in patients of Hispanic Puerto Rican descent.
22448264 Mutations in RSPH4A leads to ultrastructural cilia defects and ciliary dyskinesia.

AA Sequence

MEDSTSPKQEKENQEELGETRRPWEGKTAASPQYSEPESSEPLEAKQGPETGRQSRSSRPWSPQSRAKTP      1 - 70
LGGPAGPETSSPAPVSPREPSSSPSPLAPARQDLAAPPQSDRTTSVIPEAGTPYPDPLEQSSDKRESTPH     71 - 140
HTSQSEGNTFQQSQQPKPHLCGRRDVSYNNAKQKELRFDVFQEEDSNSDYDLQQPAPGGSEVAPSMLEIT    141 - 210
IQNAKAYLLKTSSNSGFNLYDHLSNMLTKILNERPENAVDIFENISQDVKMAHFSKKFDALQNENELLPT    211 - 280
YEIAEKQKALFLQGHLEGVDQELEDEIAENALPNVMESAFYFEQAGVGLGTDETYRIFLALKQLTDTHPI    281 - 350
QRCRFWGKILGLEMNYIVAEVEFREGEDEEEVEEEDVAEERDNGESEAHEDEEDELPKSFYKAPQAIPKE    351 - 420
ESRTGANKYVYFVCNEPGRPWVKLPPVIPAQIVIARKIKKFFTGRLDAPIISYPPFPGNESNYLRAQIAR    421 - 490
ISAGTHVSPLGFYQFGEEEGEEEEEAEGGRNSFEENPDFEGIQVIDLVESLSNWVHHVQHILSQGRCNWF    491 - 560
NSIQKNEEEEEEEDEEKDDSDYIEQEVGLPLLTPISEDLEIQNIPPWTTRLSSNLIPQYAIAVLQSNLWP    561 - 630
GAYAFSNGKKFENFYIGWGHKYSPDNYTPPVPPPVYQEYPSGPEITEMDDPSVEEEQAFRAAQEAVLLAA    631 - 700
ENEESEEDEDEEDDYD                                                          701 - 716
//

Text Mined References (13)

PMID Year Title
25789548 2015 Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
23798057 2013 Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
22448264 2012 Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
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.
More...