FAM172A - family with sequence similarity 172 member A Gene

Homo sapiens

Also known as Toupee; C5orf21

Gene ID: 83989 | Gene type: protein coding

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	Reference	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

Recombinant FAM172A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70882	FAM172A Protein, Human (HEK293, His)	Q8WUF8-1 (Q19-L416)	≥95%

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

Bioactive Molecules (1)

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

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