2. Gene
  3. POF1B - POF1B actin binding protein Gene

POF1B - POF1B actin binding protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as POF; POF2B

Gene ID: 79983 | Gene type: protein coding

About POF1B

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:85,277,396-85,379,665 (from NCBI)

This gene has 2 transcripts (splice variants), 185 orthologues and is associated with 2 phenotypes. Biased expression in skin (RPKM 60.6), colon (RPKM 34.9) and 8 other tissues.

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 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]

POF1B Products(2)

mRNA Protein Name
NM_001307940.2 NP_001294869.1 protein POF1B isoform 2
NM_024921.4 NP_079197.3 protein POF1B isoform 1
Protein Preferred Names Protein Names

protein POF1B

premature ovarian failure protein 1B

Related Diseases

Diseases Alias
Premature Ovarian Failure 2b

POF2B

Ovarian Failure, Premature, Type 2b
Amenorrhea

Absence Of Menstruation

Amenia
Cerebrooculofacioskeletal Syndrome 2

COFS2

Cerebro-Oculo-Facio-Skeletal Syndrome 2

Cofs Syndrome
Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome

DFNX7

X-Linked Deafness 7

Deafness, X-Linked, 7
Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10810 POF1B Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus POF1B RGD RGD:1560798
Macaca mulatta POF1B VGNC VGNC:76022
Bos taurus POF1B VGNC VGNC:33104
Felis catus POF1B VGNC VGNC:64276
Canis familiaris POF1B VGNC VGNC:44766
Mus musculus POF1B MGD MGI:1916943