POC1B (POC1 centriolar protein B)

Gene

• Entrez ID: 282809
• Gene name: POC1 centriolar protein B
• Gene symbol: POC1B
• Synonyms (NCBI Gene): CORD20, PIX1, TUWD12, WDR51B
• Chromosome: 12
• Chromosome location: 12q21.33
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 614784
• HGNC: 30836
• e!Ensembl: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cone-rod dystrophy	Pathogenic	rs1882924778	RCV001199721	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 20	Pathogenic; Likely pathogenic	rs753599044, rs1882929478, rs2135738057, rs76216585, rs587777693, rs587777694, rs909373397, rs750116711, rs1880707874, rs758725010	RCV001526732 RCV005005902 RCV001784865 RCV000143862 RCV000143863 RCV000143864 RCV005012519 RCV001526731 RCV002226761 RCV001280918	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs774472777, rs587777694, rs769102771	RCV004815743 RCV004815205 RCV001073969	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POC1B-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	29220607		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	25044745		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	29343252	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	25044745, 26188096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone Dystrophy	Cone Dystrophy	BEFREE	25018096, 29220607, 31390656		★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	34065499	Associate	★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	25018096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	24945461, 25018096, 29377742		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	25018096		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 20	Cone-rod dystrophy	GENOMICS_ENGLAND_DG	24945461, 29377742		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 20	Cone-rod dystrophy	UNIPROT_DG	24945461, 25018096, 25044745		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 20	Cone-rod dystrophy	CLINVAR_DG	24945461, 25018096, 25044745		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 20	Cone-rod dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart disease	Congenital Heart Disease	CLINVAR_DG	24945461, 25018096, 25044745		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	25044745		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24455749	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	25044745, 26650803		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	24945461, 29377742		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	25044745		★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	CLINVAR_DG	24945461, 25018096, 25044745		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	24945461		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24455749	Associate	★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	29377742		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	34065499	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31390656		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	24945461, 25018096, 25044745		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	26188096		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	25018096		★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations