FAM172A - family with sequence similarity 172 member A Gene

Also Known as Toupee; C5orf21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83989

About FAM172A

This gene has 9 transcripts (splice variants) and 212 orthologues. Ubiquitous expression in thyroid (RPKM 1.6), brain (RPKM 1.6) and 25 other tissues.

Summary

Predicted to contribute to siRNA binding activity. Predicted to be involved in heterochromatin assembly by small RNA; neural crest cell development; and regulation of alternative mRNA splicing, via spliceosome. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

FAM172A Products (3)

mRNA	Protein	Name
NM_001163417.1	NP_001156889.1	cotranscriptional regulator FAM172A isoform 2
NM_001163418.1	NP_001156890.1	cotranscriptional regulator FAM172A isoform 3
NM_032042.6	NP_114431.2	cotranscriptional regulator FAM172A isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

FAM172A Protein Structure

Arb2

0
100
200
300
416 a.a.

Protein Preferred Names	Protein Names
cotranscriptional regulator FAM172A	protein FAM172A

FAM172A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ARB2A	Q8WUF8	MESD	Homo sapiens	Q14696	Y2H Prey Pooling	32296183
Intra	ARB2A	Q8WUF8	MESD	Homo sapiens	Q14696	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FAM172A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70882	FAM172A Protein, Human (HEK293, His)	Q8WUF8-1 (Q19-L416)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	BBSOAS Optic Atrophy-Intellectual Disability Syndrome
Cardiofaciocutaneous Syndrome 3	CFC3 Cardiofaciocutaneous Syndrome, Type 3
Bardet-Biedl Syndrome 7	BBS7 Bardet-Biedl Syndrome, Type 7
Cardiofaciocutaneous Syndrome 2	CFC2 Cardiofaciocutaneous Syndrome, Type 2
Tarp Syndrome	TARPS Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava Pierre Robin Sequence - Congenital Heart Defect - Talipes Pierre Robin Syndrome - Congenital Heart Defect - Talipes Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
Acrofacial Dysostosis 1, Nager Type	Nager Syndrome Nager Acrofacial Dysostosis AFD1 Preaxial Acrofacial Dysostosis Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies Afd, Nager Type Nager Acrofacial Dysostosis Syndrome Nafd Acrofacial Dysostosis, Nager Type Afd Preaxial Manibulofacial Dysostosis Split Hand Deformity-Mandibulofacial Dysostosis Preaxial Mandibulofacial Dysostosis Mandibulofacial Dysostosis With Preaxial Limb Anomalies Preaxial Acrodysostosis Afd Nager Type Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04696	FAM172A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FAM172A	VGNC	VGNC:40625
Macaca mulatta	FAM172A	VGNC	VGNC:72348
Mus musculus	FAM172A	MGD	MGI:1915925
Rattus norvegicus	FAM172A	RGD	RGD:1305526
Bos taurus	FAM172A	VGNC	VGNC:106731
Felis catus	FAM172A	VGNC	VGNC:62082
Others	FAM172A	NCBI