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

Show/Hide all (1)

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

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colorectal cancer	Benign	rs373475107	RCV005870972
Familial cancer of breast	Benign	rs373475107	RCV005870971
POF1B-related disorder	Likely benign; Benign; Uncertain significance	rs141403678, rs146160940, rs1289756706, rs200033855, rs147026080, rs363774, rs142588591, rs780628376, rs143899687	RCV003931304 RCV003962101 RCV003934688 RCV003962000 RCV003950316 RCV003972552 RCV003932527 RCV003424335 RCV003920653
Premature ovarian failure 2B	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs75398746, rs1057516019, rs2227090, rs147026080, rs141543848, rs764766864, rs1057516020, rs73627353, rs139385491, rs60768249, rs363766, rs182593926, rs1057516018, rs12557804, rs6617041 View all (31 more)	RCV000011541 RCV000273063 RCV000305986 RCV000401532 RCV000271839 RCV000352843 RCV000388715 RCV000366410 RCV000331348 RCV000332657 RCV000371822 RCV000318211 RCV000327061 RCV000381627 RCV000279213 RCV000300224 RCV000396087 RCV000360702 RCV000306993 RCV000367385 RCV000281980 RCV000355998 RCV000361609 RCV000328176 RCV000387576 RCV000293176 RCV000334327 RCV000396077 RCV000341068 RCV000277647 RCV001169256 RCV001168514 RCV001169254 RCV001169193 RCV001166275 RCV001166276 RCV001166277 RCV001166804 RCV001166805 RCV001166806 RCV001169253 RCV001169255 RCV001169257 RCV001166332 RCV001166333 RCV001166855
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	rs75398746	RCV000626964

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Squamous Cell	Associate	32108138
Colorectal Neoplasms	Associate	29484395
Gonadal Dysgenesis 46 XX	Associate	39529088
Primary Ovarian Insufficiency	Associate	16773570, 31745224

POF1B (POF1B actin binding protein)