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	79983
Gene name	POF1B actin binding protein
Gene symbol	POF1B
Synonyms (NCBI Gene)	POFPOF2B
Chromosome	X
Chromosome location	Xq21.1
Summary	Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 exte

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SNP ID	Visualize variation	Clinical significance	Consequence
rs75398746	C>T	Benign, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant

145

Show/Hide all (145)

miRTarBase ID	miRNA	Experiments	Reference
MIRT531873	hsa-miR-3129-3p	PAR-CLIP	22012620
MIRT531872	hsa-miR-5583-5p	PAR-CLIP	22012620
MIRT531871	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT531870	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT531869	hsa-miR-885-5p	PAR-CLIP	22012620
MIRT531868	hsa-miR-635	PAR-CLIP	22012620
MIRT531867	hsa-miR-6774-5p	PAR-CLIP	22012620
MIRT531866	hsa-miR-376a-5p	PAR-CLIP	22012620
MIRT531865	hsa-miR-1298-5p	PAR-CLIP	22012620
MIRT531864	hsa-miR-4760-5p	PAR-CLIP	22012620
MIRT531863	hsa-miR-8061	PAR-CLIP	22012620
MIRT531862	hsa-miR-578	PAR-CLIP	22012620
MIRT531873	hsa-miR-3129-3p	PAR-CLIP	22012620
MIRT531872	hsa-miR-5583-5p	PAR-CLIP	22012620
MIRT531871	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT531870	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT531869	hsa-miR-885-5p	PAR-CLIP	22012620
MIRT531868	hsa-miR-635	PAR-CLIP	22012620
MIRT531867	hsa-miR-6774-5p	PAR-CLIP	22012620
MIRT531866	hsa-miR-376a-5p	PAR-CLIP	22012620
MIRT531865	hsa-miR-1298-5p	PAR-CLIP	22012620
MIRT531864	hsa-miR-4760-5p	PAR-CLIP	22012620
MIRT531863	hsa-miR-8061	PAR-CLIP	22012620
MIRT531862	hsa-miR-578	PAR-CLIP	22012620
MIRT1246564	hsa-miR-103a	CLIP-seq
MIRT1246565	hsa-miR-107	CLIP-seq
MIRT1246566	hsa-miR-1225-5p	CLIP-seq
MIRT1246567	hsa-miR-1238	CLIP-seq
MIRT1246568	hsa-miR-1297	CLIP-seq
MIRT1246569	hsa-miR-142-3p	CLIP-seq
MIRT1246570	hsa-miR-15a	CLIP-seq
MIRT1246571	hsa-miR-15b	CLIP-seq
MIRT1246572	hsa-miR-16	CLIP-seq
MIRT1246573	hsa-miR-195	CLIP-seq
MIRT1246574	hsa-miR-1972	CLIP-seq
MIRT1246575	hsa-miR-2052	CLIP-seq
MIRT1246576	hsa-miR-216b	CLIP-seq
MIRT1246577	hsa-miR-2467-3p	CLIP-seq
MIRT1246578	hsa-miR-26a	CLIP-seq
MIRT1246579	hsa-miR-26b	CLIP-seq
MIRT1246580	hsa-miR-3065-5p	CLIP-seq
MIRT1246581	hsa-miR-3132	CLIP-seq
MIRT1246582	hsa-miR-3150b-3p	CLIP-seq
MIRT1246583	hsa-miR-335	CLIP-seq
MIRT1246584	hsa-miR-3545-3p	CLIP-seq
MIRT1246585	hsa-miR-3591-5p	CLIP-seq
MIRT1246586	hsa-miR-3622b-5p	CLIP-seq
MIRT1246587	hsa-miR-3675-3p	CLIP-seq
MIRT1246588	hsa-miR-3685	CLIP-seq
MIRT1246589	hsa-miR-371-3p	CLIP-seq
MIRT1246590	hsa-miR-371b-3p	CLIP-seq
MIRT1246591	hsa-miR-424	CLIP-seq
MIRT1246592	hsa-miR-4280	CLIP-seq
MIRT1246593	hsa-miR-4326	CLIP-seq
MIRT1246594	hsa-miR-4422	CLIP-seq
MIRT1246595	hsa-miR-4465	CLIP-seq
MIRT1246596	hsa-miR-4524	CLIP-seq
MIRT1246597	hsa-miR-4539	CLIP-seq
MIRT1246598	hsa-miR-4650-5p	CLIP-seq
MIRT1246599	hsa-miR-4653-3p	CLIP-seq
MIRT1246600	hsa-miR-4668-3p	CLIP-seq
MIRT1246601	hsa-miR-4684-5p	CLIP-seq
MIRT1246602	hsa-miR-4724-5p	CLIP-seq
MIRT1246603	hsa-miR-4729	CLIP-seq
MIRT1246604	hsa-miR-4784	CLIP-seq
MIRT1246605	hsa-miR-497	CLIP-seq
MIRT1246606	hsa-miR-498	CLIP-seq
MIRT1246607	hsa-miR-503	CLIP-seq
MIRT1246608	hsa-miR-515-3p	CLIP-seq
MIRT1246609	hsa-miR-519e	CLIP-seq
MIRT1246610	hsa-miR-548n	CLIP-seq
MIRT1246611	hsa-miR-548t	CLIP-seq
MIRT1246612	hsa-miR-561	CLIP-seq
MIRT1246613	hsa-miR-582-5p	CLIP-seq
MIRT1246614	hsa-miR-584	CLIP-seq
MIRT1246615	hsa-miR-643	CLIP-seq
MIRT1246616	hsa-miR-646	CLIP-seq
MIRT1246617	hsa-miR-935	CLIP-seq
MIRT2072801	hsa-miR-1228	CLIP-seq
MIRT2072802	hsa-miR-153	CLIP-seq
MIRT1246575	hsa-miR-2052	CLIP-seq
MIRT2072803	hsa-miR-3117-5p	CLIP-seq
MIRT2072804	hsa-miR-3145-3p	CLIP-seq
MIRT2072805	hsa-miR-3148	CLIP-seq
MIRT2072806	hsa-miR-3161	CLIP-seq
MIRT2072807	hsa-miR-3163	CLIP-seq
MIRT2072808	hsa-miR-342-3p	CLIP-seq
MIRT2072809	hsa-miR-3673	CLIP-seq
MIRT2072810	hsa-miR-3978	CLIP-seq
MIRT2072811	hsa-miR-4282	CLIP-seq
MIRT2072812	hsa-miR-448	CLIP-seq
MIRT2072813	hsa-miR-4719	CLIP-seq
MIRT2072814	hsa-miR-4795-3p	CLIP-seq
MIRT2072815	hsa-miR-548ae	CLIP-seq
MIRT2072816	hsa-miR-548aj	CLIP-seq
MIRT2072817	hsa-miR-548am	CLIP-seq
MIRT2072818	hsa-miR-548x	CLIP-seq
MIRT2072819	hsa-miR-581	CLIP-seq
MIRT1246617	hsa-miR-935	CLIP-seq
MIRT1246564	hsa-miR-103a	CLIP-seq
MIRT1246565	hsa-miR-107	CLIP-seq
MIRT1246566	hsa-miR-1225-5p	CLIP-seq
MIRT1246567	hsa-miR-1238	CLIP-seq
MIRT2299981	hsa-miR-1298	CLIP-seq
MIRT2072802	hsa-miR-153	CLIP-seq
MIRT1246570	hsa-miR-15a	CLIP-seq
MIRT1246571	hsa-miR-15b	CLIP-seq
MIRT1246572	hsa-miR-16	CLIP-seq
MIRT1246573	hsa-miR-195	CLIP-seq
MIRT1246577	hsa-miR-2467-3p	CLIP-seq
MIRT2072803	hsa-miR-3117-5p	CLIP-seq
MIRT1246581	hsa-miR-3132	CLIP-seq
MIRT2299982	hsa-miR-3613-3p	CLIP-seq
MIRT2299983	hsa-miR-3678-3p	CLIP-seq
MIRT2299984	hsa-miR-3974	CLIP-seq
MIRT1246591	hsa-miR-424	CLIP-seq
MIRT2072812	hsa-miR-448	CLIP-seq
MIRT1246596	hsa-miR-4524	CLIP-seq
MIRT1246603	hsa-miR-4729	CLIP-seq
MIRT2072814	hsa-miR-4795-3p	CLIP-seq
MIRT1246605	hsa-miR-497	CLIP-seq
MIRT1246607	hsa-miR-503	CLIP-seq
MIRT2072815	hsa-miR-548ae	CLIP-seq
MIRT2072816	hsa-miR-548aj	CLIP-seq
MIRT2072817	hsa-miR-548am	CLIP-seq
MIRT1246610	hsa-miR-548n	CLIP-seq
MIRT1246611	hsa-miR-548t	CLIP-seq
MIRT2072818	hsa-miR-548x	CLIP-seq
MIRT1246612	hsa-miR-561	CLIP-seq
MIRT2299985	hsa-miR-576-5p	CLIP-seq
MIRT1246616	hsa-miR-646	CLIP-seq
MIRT2299986	hsa-miR-664	CLIP-seq
MIRT2299987	hsa-miR-889	CLIP-seq
MIRT1246617	hsa-miR-935	CLIP-seq
MIRT2072806	hsa-miR-3161	CLIP-seq
MIRT2072807	hsa-miR-3163	CLIP-seq
MIRT2072809	hsa-miR-3673	CLIP-seq
MIRT2072811	hsa-miR-4282	CLIP-seq
MIRT2392784	hsa-miR-4288	CLIP-seq
MIRT2072813	hsa-miR-4719	CLIP-seq
MIRT2392785	hsa-miR-632	CLIP-seq
MIRT1246584	hsa-miR-3545-3p	CLIP-seq
MIRT1246597	hsa-miR-4539	CLIP-seq
MIRT1246602	hsa-miR-4724-5p	CLIP-seq
MIRT1246615	hsa-miR-643	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003382	Process	Epithelial cell morphogenesis	IBA
GO:0003382	Process	Epithelial cell morphogenesis	IMP	21940798
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005884	Component	Actin filament	IBA
GO:0005884	Component	Actin filament	IDA	16773570
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	21940798
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	21940798
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IMP	21940798
GO:0030036	Process	Actin cytoskeleton organization	IMP	16773570
GO:0030057	Component	Desmosome	IDA	17123869
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IMP	16773570
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0070830	Process	Bicellular tight junction assembly	IMP	21940798

MIM	HGNC	e!Ensembl
300603	13711	ENSG00000124429

Q8WVV4

Protein name

Protein POF1B (Premature ovarian failure protein 1B)

Protein function

Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development.

PDB

3BH9

Family and domains

Sequence

MSSSYWSETSSSSCGTQQLPEVLQCQPQHYHCYHQSSQAQQPPEKNVVYERVRTYSGPMN
KVVQALDPFNSREVLSPLKTTSSYQNLVWSDHSQELHSPTLKISTCAPSTLHITQNTEQE
LHSPTVKLTTYPQTTIRKYVVQNPEQEPLSQFLRGSHFFPGNNVIYEKTIRKVEKLNTDQ
GCHPQAQCHHHIIQQPQVIHSAHWQQPDSSQQIQAITGNNPISTHIGNELCHSGSSQICE
QVIIQDDGPEKLDPRYFGELLADLSRKNTDLYHCLLEHLQRIGGSKQDFESTDESEDIES
LIPKGLSEFTKQQIRYILQMRGMSDKSLRLVLSTFSNIREELGHLQNDMTSLENDKMRLE
KDLSFKDTQLKEYEELLASVRANNHQQQQGLQDSSSKCQALEENNLSLRHTLSDMEYRLK
ELEYCKRNLEQENQNLRMQVSETCTGPMLQAKMDEIGNHYTEMVKNLRMEKDREICRLRS
QLNQYHKDVSKREGSCSDFQFKLHELTSLLEEKDSLIKRQSEELSKLRQEIYSSHNQPST
GGRTTITTKKYRTQYPILGLLYDDYEYIPPGSETQTIVIEKTEDKYTCP

Sequence length

589

Interactions

View interactions

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POF1B-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure 2B	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32108138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29484395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	25084053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis 46 XX	46, xx gonadal dysgenesis	Pubtator	39529088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	28990742		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	10894934, 11299520, 15459172, 16773570, 21940798, 25676666, 27989800, 29179771, 29986653, 30743181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	GENOMICS_ENGLAND_DG	26243799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	10894934, 11299520, 15459172, 16522406, 16773570, 21940798, 25676666, 27989800, 28389520, 29179771, 29986653, 31026518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Ovarian Failure 2b	Premature Ovarian Failure	CLINVAR_DG	15459172, 16773570, 21940798, 25676666		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature Ovarian Failure 2b	Premature Ovarian Failure	UNIPROT_DG	16773570, 21940798		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature Ovarian Failure 2b	Premature Ovarian Failure	GENOMICS_ENGLAND_DG	26243799		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature Ovarian Failure 2b	Premature Ovarian Failure	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

POF1B (POF1B actin binding protein)