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FIGLA - folliculogenesis specific bHLH transcription factor Gene

Also Known as POF6; BHLHC8; FIGALPHA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 344018

About FIGLA

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:70,777,310-70,790,643 (from NCBI)

This gene has 1 transcript (splice variant), 189 orthologues, 13 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]

FIGLA Products (1)

mRNA	Protein	Name
NM_001004311.3	NP_001004311.2	factor in the germline alpha

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
contributes to E-box binding	IPI IPI: Inferred from physical interaction	15044608	GOA
enables bHLH transcription factor binding	IPI IPI: Inferred from physical interaction	15044608	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of transcription regulator complex	IDA IDA: Inferred from direct assay	15044608	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FIGLA Protein Structure

HLH

0
100
200
219 a.a.

Protein Preferred Names	Protein Names
factor in the germline alpha	class C basic helix-loop-helix protein 8

FIGLA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	FIGLA	Q6QHK4	LHX6	Homo sapiens	Q9UPM6	Validated Y2H	32296183
Intra	FIGLA	Q6QHK4	LHX6	Homo sapiens	Q9UPM6	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	LHX6	Homo sapiens	Q9UPM6	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	TCF12	Homo sapiens	Q99081-3	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	TCF12	Homo sapiens	Q99081-3	Validated Y2H	32296183
Intra	FIGLA	Q6QHK4	TCF12	Homo sapiens	Q99081-3	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	LHX3	Homo sapiens	Q9UBR4-2	Validated Y2H	32296183
Intra	FIGLA	Q6QHK4	LHX3	Homo sapiens	Q9UBR4-2	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	LHX3	Homo sapiens	Q9UBR4-2	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	TCF23	Homo sapiens	Q7RTU1	Validated Y2H	32296183
Intra	FIGLA	Q6QHK4	TCF23	Homo sapiens	Q7RTU1	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	TCF23	Homo sapiens	Q7RTU1	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	TCF4	Homo sapiens	P15884-3	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	TCF4	Homo sapiens	P15884-3	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	MYF5	Homo sapiens	P13349	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	MYF5	Homo sapiens	P13349	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	MYOG	Homo sapiens	P15173	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	MYOG	Homo sapiens	P15173	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	MYOD1	Homo sapiens	P15172	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	MYOD1	Homo sapiens	P15172	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	LHX8	Homo sapiens	Q68G74	Y2H Prey Pooling	32296183
Intra	FIGLA	Q6QHK4	LHX8	Homo sapiens	Q68G74	Y2H Array	32296183
Intra	FIGLA	Q6QHK4	LHX8	Homo sapiens	Q68G74	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Premature Ovarian Failure 6	POF6 Ovarian Failure, Premature, Type 6
Genetic Non-Acquired Premature Ovarian Failure
Ovarian Dysgenesis 2	Premature Ovarian Failure 4 ODG2 Ovarian Dysgenesis, Hypergonadotropic, X-Linked Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis Ovarian Failure Hypergonadotropic Due To Ovarian Dysgenesis X-Linked Hypergonadotropic Ovarian Dysgenesis POF4 Dysgenesis, Ovarian, Type 2
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Amenorrhea	Absence Of Menstruation Amenia
Hermaphroditism
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
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Multiple Synostoses Syndrome	Symphalangism-Brachydactyly Syndrome Deafness-Hermann Type Symphalangism Syndrome Facio-Audio-Symphalangism Hearing Loss-Hermann Type Symphalangism Syndrome Wl Syndrome Multiple Synostosis Syndrome
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS04945	FIGLA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FIGLA	VGNC	VGNC:72563
Canis familiaris	FIGLA	VGNC	VGNC:54149
Mus musculus	FIGLA	MGD	MGI:1349421
Bos taurus	FIGLA	VGNC	VGNC:29009
Felis catus	FIGLA	VGNC	VGNC:80099
Rattus norvegicus	FIGLA	RGD	RGD:1564754
Others	FIGLA	NCBI