Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	345895
Gene name	Radial spoke head component 4A
Gene symbol	RSPH4A
Synonyms (NCBI Gene)	CILD11RSHL3RSPH6BdJ412I7.1
Chromosome	6
Chromosome location	6q22.1
Summary	This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, s

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118204041	C>T	Pathogenic	Stop gained, coding sequence variant
rs118204042	C>T	Pathogenic	Stop gained, coding sequence variant
rs118204043	C>T	Pathogenic	Stop gained, coding sequence variant
rs140660854	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 3 prime UTR variant, coding sequence variant
rs145831200	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146142715	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, missense variant
rs368110732	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs371374918	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397518455	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397518456	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs747419302	T>G	Pathogenic	Coding sequence variant, missense variant
rs748664881	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs750528020	C>T	Pathogenic	Stop gained, coding sequence variant
rs753041231	G>A	Pathogenic	Coding sequence variant, missense variant
rs755782051	C>T	Pathogenic	Coding sequence variant, stop gained
rs756868889	C>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs768986129	TAGG>-	Not-provided, pathogenic	Splice donor variant, coding sequence variant, intron variant
rs797045147	->C	Pathogenic	Frameshift variant, coding sequence variant
rs869320683	AAGT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs902750903	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1034327724	C>T	Pathogenic	Coding sequence variant, stop gained
rs1400425886	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1444391928	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs1554247978	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554248617	T>G	Pathogenic	Coding sequence variant, stop gained
rs1554249521	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant

Show/Hide all (15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017111	hsa-miR-335-5p	Microarray	18185580
MIRT654088	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT654087	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT654086	hsa-miR-6072	HITS-CLIP	23824327
MIRT654085	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT654084	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT654088	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT654087	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT654086	hsa-miR-6072	HITS-CLIP	23824327
MIRT654085	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT654084	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT1321361	hsa-miR-3074-5p	CLIP-seq
MIRT2319777	hsa-miR-129-5p	CLIP-seq
MIRT2319778	hsa-miR-485-3p	CLIP-seq
MIRT2319779	hsa-miR-511	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001534	Component	Radial spoke	IEA
GO:0001534	Component	Radial spoke	ISS
GO:0001535	Component	Radial spoke head	IEA
GO:0001535	Component	Radial spoke head	ISS
GO:0003341	Process	Cilium movement	IBA
GO:0003341	Process	Cilium movement	IMP	19200523
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IC	19200523
GO:0005930	Component	Axoneme	IDA	23255504
GO:0005930	Component	Axoneme	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IC	19200523
GO:0035082	Process	Axoneme assembly	IBA
GO:0035082	Process	Axoneme assembly	IMP	19200523
GO:0042995	Component	Cell projection	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060294	Process	Cilium movement involved in cell motility	IEA
GO:0062177	Process	Radial spoke assembly	IEA
GO:0062177	Process	Radial spoke assembly	ISS
GO:0097729	Component	9+2 motile cilium	IEA
GO:0097729	Component	9+2 motile cilium	ISS
GO:0120221	Process	Maintenance of ciliary planar beating movement pattern	IEA
GO:0120336	Component	Radial spoke head 1	IEA
GO:0120337	Component	Radial spoke head 2	IEA
GO:0120338	Component	Radial spoke head 3	IEA

MIM	HGNC	e!Ensembl
612647	21558	ENSG00000111834

Q5TD94

Protein name

Radial spoke head protein 4 homolog A (Radial spoke head-like protein 3)

Protein function

Component of the axonemal radial spoke head which plays an important role in ciliary motility (PubMed:19200523). Essential for triplet radial spokes (RS1, RS2 and RS3) head assembly in the motile cilia (By similarity). {ECO:0000250|UniProtKB:Q8B

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04712	Radial_spoke	210 → 694	Radial spokehead-like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in trachea, lungs, and testes (PubMed:23993197). Very strong expression is detected in nasal brushings (PubMed:19200523). {ECO:0000269|PubMed:19200523, ECO:0000269|PubMed:23993197}.

Sequence

MEDSTSPKQEKENQEELGETRRPWEGKTAASPQYSEPESSEPLEAKQGPETGRQSRSSRP
WSPQSRAKTPLGGPAGPETSSPAPVSPREPSSSPSPLAPARQDLAAPPQSDRTTSVIPEA
GTPYPDPLEQSSDKRESTPHHTSQSEGNTFQQSQQPKPHLCGRRDVSYNNAKQKELRFDV
FQEEDSNSDYDLQQPAPGGSEVAPSMLEITIQNAKAYLLKTSSNSGFNLYDHLSNMLTKI
LNERPENAVDIFENISQDVKMAHFSKKFDALQNENELLPTYEIAEKQKALFLQGHLEGVD
QELEDEIAENALPNVMESAFYFEQAGVGLGTDETYRIFLALKQLTDTHPIQRCRFWGKIL
GLEMNYIVAEVEFREGEDEEEVEEEDVAEERDNGESEAHEDEEDELPKSFYKAPQAIPKE
ESRTGANKYVYFVCNEPGRPWVKLPPVIPAQIVIARKIKKFFTGRLDAPIISYPPFPGNE
SNYLRAQIARISAGTHVSPLGFYQFGEEEGEEEEEAEGGRNSFEENPDFEGIQVIDLVES
LSNWVHHVQHILSQGRCNWFNSIQKNEEEEEEEDEEKDDSDYIEQEVGLPLLTPISEDLE
IQNIPPWTTRLSSNLIPQYAIAVLQSNLWPGAYAFSNGKKFENFYIGWGHKYSPDNYTPP
VPPPVYQEYPSGPEITEMDDPSVEEEQAFRAAQEAVLLAAENEESEEDEDEEDDYD

Sequence length

716

Interactions

View interactions

408

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Kartagener syndrome	Pathogenic	rs869320683	RCV000190913
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1775719317	RCV002274143
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs2115351044, rs2115351492, rs767646489, rs750219987, rs2115362230, rs118204041, rs118204042, rs118204043, rs1244173581, rs1428623016, rs751963395, rs1775508204, rs2482810069, rs2482814588, rs2482810190 View all (24 more)	RCV001386918 RCV001382758 RCV001381360 RCV002007390 RCV001971931 RCV000226196 RCV000473371 RCV000525090 RCV002338434 RCV003114729 RCV002947128 RCV003038693 RCV003647555 RCV003653788 RCV003815902 RCV003853011 RCV003843696 RCV003873345 RCV000473134 RCV000539808 RCV000554729 RCV000554545 RCV000539991 RCV000629364 RCV000629302 RCV000629320 RCV000629375 RCV000703926 RCV000699729 RCV000793143 RCV000824452 RCV000795890 RCV000825543 RCV001040130 RCV001204791 RCV000475229 RCV001230519 RCV001255243 RCV001255268
Primary ciliary dyskinesia 11	Pathogenic; Likely pathogenic	rs767646489, rs2115362674, rs118204041, rs118204042, rs118204043, rs768986129, rs1034327724, rs750528020, rs756868889, rs368110732, rs397518455, rs397518456, rs869320683, rs780292620	RCV003987856 RCV001801327 RCV000000532 RCV000000533 RCV000000534 RCV000509334 RCV002470901 RCV002497041 RCV000778772 RCV002282387 RCV000057514 RCV000057515 RCV000074451 RCV003485689
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic	rs118204041, rs750528020	RCV005252651 RCV004782426
RSPH4A-related disorder	Likely pathogenic; Pathogenic	rs1775512496, rs869320683	RCV003402403 RCV003421969

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs201826366	RCV005893563
Gastric cancer	Benign	rs10485188	RCV005891378
Lung cancer	Conflicting classifications of pathogenicity	rs201826366	RCV005893565
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs201826366	RCV005893564
Ovarian serous cystadenocarcinoma	Benign	rs10485188	RCV005891379
Thymoma	Benign	rs10485188	RCV005891380
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	rs201826366, rs10485188	RCV005893566 RCV005891381

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ciliary Motility Disorders	Associate	22448264, 23798057, 24824133, 25186273, 25789548, 26123568, 33577779, 33852348, 36285978, 40262389
Congenital Abnormalities	Associate	22448264
Focal Cortical Dysplasia	Associate	38491953
Hereditary renal agenesis	Associate	24824133
Immotile cilia syndrome due to defective radial spokes	Associate	25789548
Infertility	Associate	33852348
Multiple Organ Failure	Associate	33852348
Nasopharyngeal Carcinoma	Associate	30935420, 34664875
Pregnancy Ectopic	Associate	33771330
Pregnancy in Diabetics	Associate	33771330
Situs Inversus	Associate	22448264

RSPH4A (radial spoke head component 4A)