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.	282809
Gene name Gene Name - the full gene name approved by the HGNC.	POC1 centriolar protein B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POC1B
Synonyms (NCBI Gene) Gene synonyms aliases	CORD20, PIX1, TUWD12, WDR51B
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q21.33
Summary Summary of gene provided in NCBI Entrez Gene.	POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in thi

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76216585	C>A,G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777693	TGC>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant
rs587777694	C>A	Pathogenic	Splice donor variant

Show/Hide all(37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019879	hsa-miR-375	Microarray	20215506
MIRT022648	hsa-miR-124-3p	Microarray	18668037
MIRT1246124	hsa-miR-198	CLIP-seq
MIRT1246125	hsa-miR-3647-3p	CLIP-seq
MIRT1246126	hsa-miR-4252	CLIP-seq
MIRT1246127	hsa-miR-4635	CLIP-seq
MIRT1246128	hsa-miR-4666-3p	CLIP-seq
MIRT1246129	hsa-miR-548c-3p	CLIP-seq
MIRT1246130	hsa-miR-203	CLIP-seq
MIRT1246131	hsa-miR-2053	CLIP-seq
MIRT1246132	hsa-miR-2113	CLIP-seq
MIRT1246133	hsa-miR-3146	CLIP-seq
MIRT1246134	hsa-miR-3190	CLIP-seq
MIRT1246135	hsa-miR-3611	CLIP-seq
MIRT1246136	hsa-miR-383	CLIP-seq
MIRT1246137	hsa-miR-4282	CLIP-seq
MIRT1246138	hsa-miR-4422	CLIP-seq
MIRT1246139	hsa-miR-4427	CLIP-seq
MIRT1246140	hsa-miR-4680-3p	CLIP-seq
MIRT1246141	hsa-miR-4766-5p	CLIP-seq
MIRT1246142	hsa-miR-4772-5p	CLIP-seq
MIRT1246143	hsa-miR-4775	CLIP-seq
MIRT1246144	hsa-miR-4803	CLIP-seq
MIRT1246145	hsa-miR-511	CLIP-seq
MIRT1246146	hsa-miR-548k	CLIP-seq
MIRT1246147	hsa-miR-548n	CLIP-seq
MIRT1246148	hsa-miR-569	CLIP-seq
MIRT1246149	hsa-miR-570	CLIP-seq
MIRT1246150	hsa-miR-590-3p	CLIP-seq
MIRT1246151	hsa-miR-595	CLIP-seq
MIRT1246152	hsa-miR-603	CLIP-seq
MIRT1246153	hsa-miR-630	CLIP-seq
MIRT1246154	hsa-miR-758	CLIP-seq
MIRT2072735	hsa-miR-205	CLIP-seq
MIRT2072736	hsa-miR-3617	CLIP-seq
MIRT2072737	hsa-miR-579	CLIP-seq
MIRT2072738	hsa-miR-641	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000922	Component	Spindle pole	IDA	23015594
GO:0000922	Component	Spindle pole	IEA
GO:0001675	Process	Acrosome assembly	IEA
GO:0001895	Process	Retina homeostasis	IMP	25044745
GO:0005515	Function	Protein binding	IPI	23015594, 25018096, 25036637, 26638075, 28514442, 32060285, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	20008567, 23015594, 32060285, 32110738, 32946374, 37934472
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007099	Process	Centriole replication	IDA	32060285
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0008283	Process	Cell population proliferation	IMP	23015594
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	20008567
GO:0042995	Component	Cell projection	IEA
GO:0048871	Process	Multicellular organismal-level homeostasis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	20008567
GO:0120316	Process	Sperm flagellum assembly	IEA
GO:1903724	Process	Positive regulation of centriole elongation	IMP	37934472

MIM	HGNC	e!Ensembl
614784	30836	ENSG00000139323

Protein

UniProt ID

Q8TC44

Protein name

POC1 centriolar protein homolog B (Pix1) (Proteome of centriole protein 1B) (WD repeat-containing protein 51B)

Protein function

Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567, PubMed:32060285). Involved in early steps of centriole duplication, as well as in the later steps of centriole length control (PubMed:19109428). Ac

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	8 → 46	WD domain, G-beta repeat	Repeat
PF00400	WD40	52 → 87	WD domain, G-beta repeat	Repeat
PF00400	WD40	92 → 130	WD domain, G-beta repeat	Repeat
PF00400	WD40	134 → 172	WD domain, G-beta repeat	Repeat
PF00400	WD40	176 → 214	WD domain, G-beta repeat	Repeat
PF00400	WD40	218 → 256	WD domain, G-beta repeat	Repeat
PF00400	WD40	260 → 298	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in the retina. {ECO:0000269|PubMed:25044745}.

Sequence

MASATEDPVLERYFKGHKAAITSLDLSPNGKQLATASWDTFLMLWNFKPHARAYRYVGHK
DVVTSVQFSPHGNLLASASRDRTVRLWIPDKRGKFSEFKAHTAPVRSVDFSADGQFLATA
SEDKSIKVWSMYRQRFLYSLYRHTHWVRCAKFSPDGRLIVSCSEDKTIKIWDTTNKQCVN
NFSDSVGFANFVDFNPSGTCIASAGSDQTVKVWDVRVNKLLQHYQVHSGGVNCISFHPSG
NYLITASSDGTLKILDLLEGRLIYTLQGHTGPVFTVSFSKGGELFASGGADTQVLLWRTN
FDELHCKGLTKRNLKRLHFDSPPHLLDIYPRTPHPHEEKVETVEINPKLEVIDLQISTPP
VMDILSFDSTTTTETSGRTLPDKGEEACGYFLNPSLMSPECLPTTTKKKTEDMSDLPCES
QRSIPLAVTDALEHIMEQLNVLTQTVSILEQRLTLTEDKLKDCLENQQKLFSAVQQKS

Sequence length

478

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
Cone-rod dystrophy	cone-rod dystrophy 20	rs76216585, rs587777693, rs587777694, rs909373397, rs750116711	N/A
retinal dystrophy	Retinal dystrophy	rs587777694, rs769102771	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs1882924778	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Attention Deficit Hyperactivity Disorder	Attention deficit hyperactivity disorder	N/A	N/A	GWAS
Heart Failure	Heart failure	N/A	N/A	GWAS
Hypertension	Hypertension, Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cardiovascular Diseases	Associate	29343252
Cone Dystrophy	Associate	34065499
Cone Rod Dystrophies	Associate	29555955, 34065499
Diabetes Mellitus Type 2	Associate	24455749
Hypertensive Retinopathy	Associate	34065499
Obesity	Associate	24455749
Retinal Degeneration	Associate	34065499
Retinal Dystrophies	Associate	32244552

POC1B (POC1 centriolar protein B)