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Aliases for POF1B Gene

Aliases for POF1B Gene

  • POF1B, Actin Binding Protein 2 3
  • Premature Ovarian Failure, 1B 2 3 5
  • Premature Ovarian Failure Protein 1B 3 4
  • Protein POF1B 3
  • POF2B 3
  • POF 3

External Ids for POF1B Gene

Previous GeneCards Identifiers for POF1B Gene

  • GC0XM079912
  • GC0XM081608
  • GC0XM082568
  • GC0XM083304
  • GC0XM084338
  • GC0XM084532
  • GC0XM078105

Summaries for POF1B Gene

Entrez Gene Summary for POF1B Gene

  • 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 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]

GeneCards Summary for POF1B Gene

POF1B (POF1B, Actin Binding Protein) is a Protein Coding gene. Diseases associated with POF1B include Premature Ovarian Failure 2B and Amenorrhea. GO annotations related to this gene include actin binding.

UniProtKB/Swiss-Prot for POF1B Gene

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

Gene Wiki entry for POF1B Gene

Additional gene information for POF1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POF1B Gene

Genomics for POF1B Gene

Regulatory Elements for POF1B Gene

Enhancers for POF1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH085357 0.6 ENCODE 13.1 +20.6 20559 3 ZNF217 SMARCE1 CTBP1 GATA3 RFX1 DPF2 POF1B ZNF711
GH0XH085373 0.6 ENCODE 0.7 +2.5 2503 7 POLR2A ELF1 ATF7 MLLT1 KLF4 ATF2 POF1B ZNF711
GH0XH085243 0.8 ENCODE 0.1 +135.3 135330 2 PKNOX1 ATF1 GLIS2 ZNF366 ATF7 CREM EGR2 CEBPB OVOL3 ZNF341 ZNF711 POF1B
GH0XH085502 0.5 ENCODE 0.1 -124.0 -123967 1 PKNOX1 CTBP1 NFRKB WT1 POF1B GC0XP085707
GH0XH085516 0.4 ENCODE 0.1 -136.5 -136548 0 FOS POF1B GC0XP085707
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POF1B on UCSC Golden Path with GeneCards custom track

Genomic Location for POF1B Gene

Chromosome:
X
Start:
85,276,894 bp from pter
End:
85,379,743 bp from pter
Size:
102,850 bases
Orientation:
Minus strand

Genomic View for POF1B Gene

Genes around POF1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POF1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POF1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POF1B Gene

Proteins for POF1B Gene

  • Protein details for POF1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVV4-POF1B_HUMAN
    Recommended name:
    Protein POF1B
    Protein Accession:
    Q8WVV4
    Secondary Accessions:
    • A8K2U5
    • Q5H9E9
    • Q5H9F0
    • Q8NG12
    • Q9H5Y2
    • Q9H738
    • Q9H744

    Protein attributes for POF1B Gene

    Size:
    589 amino acids
    Molecular mass:
    68065 Da
    Quaternary structure:
    • Interacts with nonmuscle actin.
    SequenceCaution:
    • Sequence=BAB15061.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15485.1; Type=Frameshift; Positions=464; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POF1B Gene

    Alternative splice isoforms for POF1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POF1B Gene

Post-translational modifications for POF1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POF1B Gene

No data available for DME Specific Peptides for POF1B Gene

Domains & Families for POF1B Gene

Gene Families for POF1B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for POF1B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POF1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with POF1B: view

No data available for UniProtKB/Swiss-Prot for POF1B Gene

Function for POF1B Gene

Molecular function for POF1B Gene

UniProtKB/Swiss-Prot Function:
Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development.

Gene Ontology (GO) - Molecular Function for POF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0051015 actin filament binding IMP 16773570
genes like me logo Genes that share ontologies with POF1B: view
genes like me logo Genes that share phenotypes with POF1B: view

Human Phenotype Ontology for POF1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POF1B Gene

MGI Knock Outs for POF1B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POF1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for POF1B Gene

Localization for POF1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for POF1B Gene

Cell junction, tight junction.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POF1B gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005884 actin filament IDA 16773570
GO:0005912 adherens junction IDA 21940798
GO:0005923 bicellular tight junction IEA,IDA 21940798
GO:0030054 cell junction IEA --
GO:0030057 desmosome IEA --
genes like me logo Genes that share ontologies with POF1B: view

Pathways & Interactions for POF1B Gene

SuperPathways for POF1B Gene

No Data Available

Interacting Proteins for POF1B Gene

Gene Ontology (GO) - Biological Process for POF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003382 epithelial cell morphogenesis IMP 21940798
GO:0007015 actin filament organization IMP 21940798
GO:0030036 actin cytoskeleton organization IMP 16773570
GO:0070830 bicellular tight junction assembly IMP 21940798
genes like me logo Genes that share ontologies with POF1B: view

No data available for Pathways by source and SIGNOR curated interactions for POF1B Gene

Drugs & Compounds for POF1B Gene

No Compound Related Data Available

Transcripts for POF1B Gene

Unigene Clusters for POF1B Gene

Premature ovarian failure, 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POF1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for POF1B Gene

No ASD Table

Relevant External Links for POF1B Gene

GeneLoc Exon Structure for
POF1B
ECgene alternative splicing isoforms for
POF1B

Expression for POF1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POF1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POF1B Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x18.5), Skin - Not Sun Exposed (Suprapubic) (x13.8), and Colon - Transverse (x4.1).

Protein differential expression in normal tissues from HIPED for POF1B Gene

This gene is overexpressed in Cervix (51.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POF1B Gene



NURSA nuclear receptor signaling pathways regulating expression of POF1B Gene:

POF1B

SOURCE GeneReport for Unigene cluster for POF1B Gene:

Hs.267038

Evidence on tissue expression from TISSUES for POF1B Gene

  • Intestine(4.4)
  • Muscle(4.1)
  • Liver(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POF1B Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with POF1B: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for POF1B Gene

Orthologs for POF1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for POF1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POF1B 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia POF1B 33 34
  • 89.64 (n)
rat
(Rattus norvegicus)
Mammalia Pof1b 33
  • 88.48 (n)
mouse
(Mus musculus)
Mammalia Pof1b 16 34 33
  • 87.96 (n)
oppossum
(Monodelphis domestica)
Mammalia POF1B 34
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POF1B 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POF1B 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves POF1B 34 33
  • 62.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POF1B 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pof1b 33
  • 59.21 (n)
zebrafish
(Danio rerio)
Actinopterygii pof1b 34
  • 29 (a)
OneToOne
Species where no ortholog for POF1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POF1B Gene

ENSEMBL:
Gene Tree for POF1B (if available)
TreeFam:
Gene Tree for POF1B (if available)

Paralogs for POF1B Gene

No data available for Paralogs for POF1B Gene

Variants for POF1B Gene

Sequence variations from dbSNP and Humsavar for POF1B Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs75398746 Pathogenic, Premature ovarian failure 2B (POF2B) [MIM:300604] 85,308,188(-) ACTCC(A/G)ACTAG reference, missense
rs112147894 Likely benign 85,279,376(+) ACACA(-/C)AAAAA utr-variant-3-prime
rs139385491 Likely benign 85,306,198(+) GTTTT(G/T)ATTCT reference, missense
rs141543848 Likely benign 85,305,857(+) TGGTT(C/G)CCAAT reference, synonymous-codon
rs142588591 Likely benign 85,379,342(+) GGGCT(G/T)GGCTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for POF1B Gene

Variant ID Type Subtype PubMed ID
nsv820009 CNV loss 19587683

Variation tolerance for POF1B Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POF1B Gene

Human Gene Mutation Database (HGMD)
POF1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POF1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POF1B Gene

Disorders for POF1B Gene

MalaCards: The human disease database

(4) MalaCards diseases for POF1B Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 2b
  • pof2b
amenorrhea
  • absence of menstruation
ovarian disease
  • ovarian dysfunction
premature ovarian failure 1
  • premature ovarian failure
- elite association - COSMIC cancer census association via MalaCards
Search POF1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POF1B_HUMAN
  • Premature ovarian failure 2B (POF2B) [MIM:300604]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:16773570, ECO:0000269 PubMed:21940798}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POF1B

Genetic Association Database (GAD)
POF1B
Human Genome Epidemiology (HuGE) Navigator
POF1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POF1B
genes like me logo Genes that share disorders with POF1B: view

No data available for Genatlas for POF1B Gene

Publications for POF1B Gene

  1. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. (PMID: 15459172) Bione S … Toniolo D (Human reproduction (Oxford, England) 2004) 3 4 22 45 60
  2. X chromosome genes and premature ovarian failure. (PMID: 11299520) Bione S … Toniolo D (Seminars in reproductive medicine 2000) 2 3 22 60
  3. The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. (PMID: 21940798) Padovano V … Pietrini G (Journal of cell science 2011) 3 4 60
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 45 60
  5. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. (PMID: 16773570) Lacombe A … Vilain E (American journal of human genetics 2006) 3 4 60

Products for POF1B Gene

Sources for POF1B Gene

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