1. Gene
  2. FAM161A - FAM161 centrosomal protein A Gene

FAM161A - FAM161 centrosomal protein A Gene

Homo sapiens

Also known as RP28

Gene ID: 84140 | Gene type: protein coding

About FAM161A

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:61,800,240-61,854,060 (from NCBI)

This gene has 7 transcripts (splice variants), 246 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 4.2), ovary (RPKM 1.8) and 23 other tissues.

Summary

This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]

FAM161A Products(2)

mRNA Protein Name
NM_001201543.2 NP_001188472.1 protein FAM161A isoform 1
NM_032180.3 NP_115556.2 protein FAM161A isoform 2

FAM161A Protein Structure

UPF0564

UPF0564: Uncharacterised protein family UPF0564 (234 - 573)

  • 0
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  • 600
  • 660 a.a.
Protein Preferred Names Protein Names

protein FAM161A

FAM161A, centrosomal protein

Related Diseases

Diseases Alias
Retinitis Pigmentosa 28

RP28

Retinitis Pigmentosa, Type 28

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis
Retinitis Pigmentosa 54

RP54

Retinitis Pigmentosa, Type 54

Retinitis Pigmentosa 74

RP74

Retinitis Pigmentosa, Type 74

Retinitis Pigmentosa 83

RP83

Retinitis Pigmentosa, Type 83

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64

Retinal Dystrophy With Early Macular Involvement

CORD16

RP64

Chronic Interstitial Cystitis
Retinitis Pigmentosa 89

RP89

Retinitis Pigmentosa, Type 89

Retinal Degeneration

Degeneration Of Retina

Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease

Senior-Loken Syndrome 1

Senior-Loken Syndrome

Renal Dysplasia And Retinal Aplasia

Renal-Retinal Syndrome

Loken-Senior Syndrome

Juvenile Nephronophthisis With Leber Amaurosis

SLSN1

Senior-Loken Syndrome-1

Loken Senior Syndrome

Senior Loken Syndrome

Renal Dysplasia Retinal Aplasia

Nephronophthisis With Retinal Dystrophy

Renal Dysplasia-Retinal Aplasia Syndrome

Slsn

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

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

Orthologs Information

Species Symbol Source ID
Felis catus FAM161A VGNC VGNC:62073
Rattus norvegicus FAM161A RGD RGD:1304999
Bos taurus FAM161A VGNC VGNC:28742
Mus musculus FAM161A MGD MGI:1921123
Macaca mulatta FAM161A VGNC VGNC:72357
Canis familiaris FAM161A VGNC VGNC:40610