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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84140
Gene name Gene Name - the full gene name approved by the HGNC.	FAM161 centrosomal protein A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FAM161A
Synonyms (NCBI Gene) Gene synonyms aliases	RP28
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p15
Summary Summary of gene provided in NCBI Entrez Gene.	This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after

Show/Hide all(22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4672457	A>G,T	Likely-pathogenic, benign	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs138464813	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant, intron variant
rs139266382	G>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs140622968	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs187695569	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200691042	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs202193201	G>A,C,T	Pathogenic	Non coding transcript variant, stop gained, synonymous variant, missense variant, coding sequence variant
rs267606793	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs267606794	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs369633003	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs397704718	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs748847284	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs761440783	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs767414973	A>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs777678022	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1178184685	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1281095503	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1316281505	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1553354522	G>C	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553354861	CTTC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1572875669	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1572879569	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained

Show/Hide all(187)

miRTarBase ID	miRNA	Experiments
MIRT981438	hsa-miR-1206	CLIP-seq
MIRT981439	hsa-miR-122	CLIP-seq
MIRT981440	hsa-miR-1234	CLIP-seq
MIRT981441	hsa-miR-1307	CLIP-seq
MIRT981442	hsa-miR-1343	CLIP-seq
MIRT981443	hsa-miR-145	CLIP-seq
MIRT981444	hsa-miR-150	CLIP-seq
MIRT981445	hsa-miR-186	CLIP-seq
MIRT981446	hsa-miR-203	CLIP-seq
MIRT981447	hsa-miR-2276	CLIP-seq
MIRT981448	hsa-miR-2467-3p	CLIP-seq
MIRT981449	hsa-miR-3125	CLIP-seq
MIRT981450	hsa-miR-3135b	CLIP-seq
MIRT981451	hsa-miR-3158-5p	CLIP-seq
MIRT981452	hsa-miR-3194-3p	CLIP-seq
MIRT981453	hsa-miR-320e	CLIP-seq
MIRT981454	hsa-miR-3678-3p	CLIP-seq
MIRT981455	hsa-miR-3916	CLIP-seq
MIRT981456	hsa-miR-3919	CLIP-seq
MIRT981457	hsa-miR-4282	CLIP-seq
MIRT981458	hsa-miR-4284	CLIP-seq
MIRT981459	hsa-miR-4418	CLIP-seq
MIRT981460	hsa-miR-4423-5p	CLIP-seq
MIRT981461	hsa-miR-4438	CLIP-seq
MIRT981462	hsa-miR-4634	CLIP-seq
MIRT981463	hsa-miR-4638-5p	CLIP-seq
MIRT981464	hsa-miR-4677-3p	CLIP-seq
MIRT981465	hsa-miR-4679	CLIP-seq
MIRT981466	hsa-miR-4698	CLIP-seq
MIRT981467	hsa-miR-4712-5p	CLIP-seq
MIRT981468	hsa-miR-4731-5p	CLIP-seq
MIRT981469	hsa-miR-4778-5p	CLIP-seq
MIRT981470	hsa-miR-509-3-5p	CLIP-seq
MIRT981471	hsa-miR-5095	CLIP-seq
MIRT981472	hsa-miR-509-5p	CLIP-seq
MIRT981473	hsa-miR-770-5p	CLIP-seq
MIRT981474	hsa-miR-877	CLIP-seq
MIRT1921598	hsa-miR-1193	CLIP-seq
MIRT1921599	hsa-miR-129-5p	CLIP-seq
MIRT1921600	hsa-miR-1976	CLIP-seq
MIRT1921601	hsa-miR-2392	CLIP-seq
MIRT1921602	hsa-miR-3149	CLIP-seq
MIRT1921603	hsa-miR-3152-3p	CLIP-seq
MIRT1921604	hsa-miR-3676	CLIP-seq
MIRT1921605	hsa-miR-411	CLIP-seq
MIRT1921606	hsa-miR-4662a-5p	CLIP-seq
MIRT1921607	hsa-miR-4676-5p	CLIP-seq
MIRT1921608	hsa-miR-483-5p	CLIP-seq
MIRT1921609	hsa-miR-575	CLIP-seq
MIRT1921610	hsa-miR-640	CLIP-seq
MIRT1990736	hsa-miR-105	CLIP-seq
MIRT1921598	hsa-miR-1193	CLIP-seq
MIRT981438	hsa-miR-1206	CLIP-seq
MIRT981439	hsa-miR-122	CLIP-seq
MIRT1921599	hsa-miR-129-5p	CLIP-seq
MIRT981441	hsa-miR-1307	CLIP-seq
MIRT1990737	hsa-miR-132	CLIP-seq
MIRT981442	hsa-miR-1343	CLIP-seq
MIRT981444	hsa-miR-150	CLIP-seq
MIRT1990738	hsa-miR-212	CLIP-seq
MIRT981447	hsa-miR-2276	CLIP-seq
MIRT1921601	hsa-miR-2392	CLIP-seq
MIRT981450	hsa-miR-3135b	CLIP-seq
MIRT1921603	hsa-miR-3152-3p	CLIP-seq
MIRT981452	hsa-miR-3194-3p	CLIP-seq
MIRT1990739	hsa-miR-3199	CLIP-seq
MIRT981453	hsa-miR-320e	CLIP-seq
MIRT1990740	hsa-miR-3620	CLIP-seq
MIRT1921604	hsa-miR-3676	CLIP-seq
MIRT1921605	hsa-miR-411	CLIP-seq
MIRT981458	hsa-miR-4284	CLIP-seq
MIRT981460	hsa-miR-4423-5p	CLIP-seq
MIRT981461	hsa-miR-4438	CLIP-seq
MIRT1990741	hsa-miR-4477a	CLIP-seq
MIRT981462	hsa-miR-4634	CLIP-seq
MIRT981463	hsa-miR-4638-5p	CLIP-seq
MIRT1921606	hsa-miR-4662a-5p	CLIP-seq
MIRT1921607	hsa-miR-4676-5p	CLIP-seq
MIRT1990742	hsa-miR-4732-3p	CLIP-seq
MIRT1990743	hsa-miR-4735-5p	CLIP-seq
MIRT1990744	hsa-miR-4775	CLIP-seq
MIRT1990745	hsa-miR-4794	CLIP-seq
MIRT1921608	hsa-miR-483-5p	CLIP-seq
MIRT981471	hsa-miR-5095	CLIP-seq
MIRT1990746	hsa-miR-562	CLIP-seq
MIRT1921609	hsa-miR-575	CLIP-seq
MIRT1990747	hsa-miR-590-3p	CLIP-seq
MIRT1990748	hsa-miR-628-5p	CLIP-seq
MIRT1921598	hsa-miR-1193	CLIP-seq
MIRT981438	hsa-miR-1206	CLIP-seq
MIRT981439	hsa-miR-122	CLIP-seq
MIRT2224973	hsa-miR-1229	CLIP-seq
MIRT2224974	hsa-miR-1245b-3p	CLIP-seq
MIRT981441	hsa-miR-1307	CLIP-seq
MIRT981442	hsa-miR-1343	CLIP-seq
MIRT981444	hsa-miR-150	CLIP-seq
MIRT1921600	hsa-miR-1976	CLIP-seq
MIRT2224975	hsa-miR-200b	CLIP-seq
MIRT2224976	hsa-miR-200c	CLIP-seq
MIRT981447	hsa-miR-2276	CLIP-seq
MIRT1921601	hsa-miR-2392	CLIP-seq
MIRT981450	hsa-miR-3135b	CLIP-seq
MIRT1921603	hsa-miR-3152-3p	CLIP-seq
MIRT2224977	hsa-miR-3155	CLIP-seq
MIRT2224978	hsa-miR-3155b	CLIP-seq
MIRT981452	hsa-miR-3194-3p	CLIP-seq
MIRT1990739	hsa-miR-3199	CLIP-seq
MIRT981453	hsa-miR-320e	CLIP-seq
MIRT2224979	hsa-miR-338-5p	CLIP-seq
MIRT1921604	hsa-miR-3676	CLIP-seq
MIRT2224980	hsa-miR-4279	CLIP-seq
MIRT981458	hsa-miR-4284	CLIP-seq
MIRT2224981	hsa-miR-429	CLIP-seq
MIRT981460	hsa-miR-4423-5p	CLIP-seq
MIRT981461	hsa-miR-4438	CLIP-seq
MIRT2224982	hsa-miR-452	CLIP-seq
MIRT981462	hsa-miR-4634	CLIP-seq
MIRT981463	hsa-miR-4638-5p	CLIP-seq
MIRT1921606	hsa-miR-4662a-5p	CLIP-seq
MIRT2224983	hsa-miR-4676-3p	CLIP-seq
MIRT1921607	hsa-miR-4676-5p	CLIP-seq
MIRT2224984	hsa-miR-4722-3p	CLIP-seq
MIRT2224985	hsa-miR-4742-3p	CLIP-seq
MIRT2224986	hsa-miR-4793-5p	CLIP-seq
MIRT2224987	hsa-miR-484	CLIP-seq
MIRT2224988	hsa-miR-501-5p	CLIP-seq
MIRT981471	hsa-miR-5095	CLIP-seq
MIRT2224989	hsa-miR-548c-3p	CLIP-seq
MIRT2224990	hsa-miR-548v	CLIP-seq
MIRT1990746	hsa-miR-562	CLIP-seq
MIRT1921609	hsa-miR-575	CLIP-seq
MIRT1921599	hsa-miR-129-5p	CLIP-seq
MIRT1921602	hsa-miR-3149	CLIP-seq
MIRT1990739	hsa-miR-3199	CLIP-seq
MIRT1921605	hsa-miR-411	CLIP-seq
MIRT981461	hsa-miR-4438	CLIP-seq
MIRT1990743	hsa-miR-4735-5p	CLIP-seq
MIRT1990744	hsa-miR-4775	CLIP-seq
MIRT1990745	hsa-miR-4794	CLIP-seq
MIRT1921608	hsa-miR-483-5p	CLIP-seq
MIRT981471	hsa-miR-5095	CLIP-seq
MIRT1990747	hsa-miR-590-3p	CLIP-seq
MIRT1921599	hsa-miR-129-5p	CLIP-seq
MIRT1921602	hsa-miR-3149	CLIP-seq
MIRT1921605	hsa-miR-411	CLIP-seq
MIRT1990743	hsa-miR-4735-5p	CLIP-seq
MIRT1990744	hsa-miR-4775	CLIP-seq
MIRT1990745	hsa-miR-4794	CLIP-seq
MIRT1921608	hsa-miR-483-5p	CLIP-seq
MIRT1990747	hsa-miR-590-3p	CLIP-seq
MIRT1921599	hsa-miR-129-5p	CLIP-seq
MIRT1921602	hsa-miR-3149	CLIP-seq
MIRT1921603	hsa-miR-3152-3p	CLIP-seq
MIRT1990739	hsa-miR-3199	CLIP-seq
MIRT1921604	hsa-miR-3676	CLIP-seq
MIRT1921605	hsa-miR-411	CLIP-seq
MIRT981461	hsa-miR-4438	CLIP-seq
MIRT1921606	hsa-miR-4662a-5p	CLIP-seq
MIRT1921607	hsa-miR-4676-5p	CLIP-seq
MIRT1990743	hsa-miR-4735-5p	CLIP-seq
MIRT1990744	hsa-miR-4775	CLIP-seq
MIRT1990745	hsa-miR-4794	CLIP-seq
MIRT1921608	hsa-miR-483-5p	CLIP-seq
MIRT981471	hsa-miR-5095	CLIP-seq
MIRT1921609	hsa-miR-575	CLIP-seq
MIRT1990747	hsa-miR-590-3p	CLIP-seq
MIRT981439	hsa-miR-122	CLIP-seq
MIRT1921599	hsa-miR-129-5p	CLIP-seq
MIRT981441	hsa-miR-1307	CLIP-seq
MIRT981450	hsa-miR-3135b	CLIP-seq
MIRT1921602	hsa-miR-3149	CLIP-seq
MIRT1921603	hsa-miR-3152-3p	CLIP-seq
MIRT1990739	hsa-miR-3199	CLIP-seq
MIRT981453	hsa-miR-320e	CLIP-seq
MIRT1921604	hsa-miR-3676	CLIP-seq
MIRT1921605	hsa-miR-411	CLIP-seq
MIRT981460	hsa-miR-4423-5p	CLIP-seq
MIRT981461	hsa-miR-4438	CLIP-seq
MIRT981462	hsa-miR-4634	CLIP-seq
MIRT981463	hsa-miR-4638-5p	CLIP-seq
MIRT1921606	hsa-miR-4662a-5p	CLIP-seq
MIRT1990743	hsa-miR-4735-5p	CLIP-seq
MIRT1990744	hsa-miR-4775	CLIP-seq
MIRT1990745	hsa-miR-4794	CLIP-seq
MIRT1921608	hsa-miR-483-5p	CLIP-seq
MIRT981471	hsa-miR-5095	CLIP-seq
MIRT1990747	hsa-miR-590-3p	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000235	Component	Astral microtubule	IDA	22791751
GO:0001917	Component	Photoreceptor inner segment	IDA	22791751
GO:0005515	Function	Protein binding	IPI	22791751, 22940612, 25018096, 25416956, 26638075, 27107012, 29892012, 31515488, 32296183, 32814053, 33961781, 36233334
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005813	Component	Centrosome	IDA	21399614, 22791751
GO:0005814	Component	Centriole	IDA	32110738, 37934472
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005876	Component	Spindle microtubule	IDA	22791751
GO:0005929	Component	Cilium	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008017	Function	Microtubule binding	IMP	22791751
GO:0030030	Process	Cell projection organization	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	22940612
GO:0036064	Component	Ciliary basal body	IDA	22791751, 22940612
GO:0042802	Function	Identical protein binding	IDA	22791751
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IBA
GO:0060271	Process	Cilium assembly	IMP	22940612
GO:0072686	Component	Mitotic spindle	IDA	22791751
GO:0097431	Component	Mitotic spindle pole	IDA	22791751

MIM	HGNC	e!Ensembl
613596	25808	ENSG00000170264

Protein

UniProt ID

Q3B820

Protein name

Protein FAM161A

Protein function

Involved in ciliogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10595	UPF0564	234 → 592	Uncharacterised protein family UPF0564	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the most abundant in all tissues tested. {ECO:0000269|PubMed:20705278, ECO:0000269|PubMed:20705279, ECO:0000269|PubMed:36233334

Sequence

MATSHRVAKLVASSLQTPVNPITGARVAQYEREDPLKALAAAEAILEDEEEEKVAQPAGA
SADLNTSFSGVDEHAPISYEDFVNFPDIHHSNEEYFKKVEELKAAHIETMAKLEKMYQDK
LHLKEVQPVVIREDSLSDSSRSVSEKNSYHPVSLMTSFSEPDLGQSSSLYVSSSEEELPN
LEKEYPRKNRMMTYAKELINNMWTDFCVEDYIRCKDTGFHAAEKRRKKRKEWVPTITVPE
PFQMMIREQKKKEESMKSKSDIEMVHKALKKQEEDPEYKKKFRANPVPASVFLPLYHDLV
KQKEERRRSLKEKSKEALLASQKPFKFIAREEQKRAAREKQLRDFLKYKKKTNRFKARPI
PRSTYGSTTNDKLKEEELYRNLRTQLRAQEHLQNSSPLPCRSACGCRNPRCPEQAVKLKC
KHKVRCPTPDFEDLPERYQKHLSEHKSPKLLTVCKPFDLHASPHASIKREKILADIEADE
ENLKETRWPYLSPRRKSPVRCAGVNPVPCNCNPPVPTVSSRGREQAVRKSEKERMREYQR
ELEEREEKLKKRPLLFERVAQKNARMAAEKHYSNTLKALGISDEFVSKKGQSGKVLEYFN
NQETKSVTEDKESFNEEEKIEERENGEENYFIDTNSQDSYKEKDEANEESEEEKSVEESH

Sequence length

660

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs200691042, rs1167380267, rs767414973, rs397704718, rs202193201, rs267606794, rs761440783	N/A
Retinitis Pigmentosa	retinitis pigmentosa 28, retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs748847284, rs1673040470, rs4672457, rs200691042, rs767414973, rs397704718, rs1178184685, rs1553354861, rs1281095503, rs202193201, rs1572875669, rs267606794, rs777678022, rs1316281505, rs267606793 View all (4 more)	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs200691042	N/A

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cone Rod Dystrophies	Associate	29555955, 34130719
Genetic Diseases Inborn	Associate	33494994
Hypertensive Retinopathy	Associate	26113502
Infertility Male	Associate	36896575
Muscular Disorders Atrophic	Associate	24520187
Myopia	Associate	32938956
Neoplastic Syndromes Hereditary	Associate	24651477
Night Blindness	Associate	24520187, 32938956
Photophobia	Associate	24520187
Refsum Disease Infantile	Associate	34130719
Retinal Degeneration	Associate	25007332, 26352687, 28945494
Retinal Dystrophies	Associate	27874104, 34130719
Retinitis Pigmentosa	Associate	10507729, 15215745, 20011630, 24520187, 24651477, 26113502, 32938956, 34130719, 35408898
Vision Disorders	Associate	24520187, 25007332, 26113502
Vision Low	Associate	24520187

FAM161A (FAM161 centrosomal protein A)