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 h... See more...

Aliases for FAM161A Gene

Aliases for FAM161A Gene

  • FAM161 Centrosomal Protein A 2 3 5
  • Retinitis Pigmentosa 28 (Autosomal Recessive) 2 3
  • Family With Sequence Similarity 161 Member A 2 3
  • Protein FAM161A 3 4
  • Family With Sequence Similarity 161, Member A 2
  • FAM161A, Centrosomal Protein 3
  • RP28 3

External Ids for FAM161A Gene

Previous HGNC Symbols for FAM161A Gene

  • RP28

Previous GeneCards Identifiers for FAM161A Gene

  • GC02M061905
  • GC02M062051

Summaries for FAM161A Gene

Entrez Gene Summary for FAM161A Gene

  • 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]

GeneCards Summary for FAM161A Gene

FAM161A (FAM161 Centrosomal Protein A) is a Protein Coding gene. Diseases associated with FAM161A include Retinitis Pigmentosa 28 and Retinitis Pigmentosa. An important paralog of this gene is FAM161B.

UniProtKB/Swiss-Prot Summary for FAM161A Gene

Additional gene information for FAM161A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM161A Gene

Genomics for FAM161A Gene

GeneHancer (GH) Regulatory Elements for FAM161A Gene

Promoters and enhancers for FAM161A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J061853 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.2 +1.0 1001 3.2 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 NRF1 MYC POLR2G FAM161A CCT4 USP34 XPO1 PEX13 lnc-CCT4-3-002
GH02J061886 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 19.7 -32.7 -32698 4.2 RXRA HNRNPK ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 CCT4 COMMD1 lnc-FAM161A-2 AHSA2P ENSG00000236498 XPO1 ENSG00000232713 USP34 FAM161A NONOP2
GH02J061927 Enhancer 0.8 Ensembl ENCODE 15 -72.6 -72599 4 TEAD4 CTBP1 TEAD1 FOXA2 ZNF592 ZNF189 HOMEZ TEAD3 HLF GATA1 ENSG00000278523 KR153224-006 FAM161A CCT4 COMMD1 ENSG00000230702
GH02J061905 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.2 -50.7 -50699 2.2 ZNF217 SIN3A TCF12 POLR2G SP1 PHF8 ZIC2 REST POLR2A ZBTB10 COMMD1 FAM161A piR-50437-379
GH02J061770 Enhancer 0.8 Ensembl ENCODE 10.8 +84.6 84585 1.6 ZSCAN5C CUX1 EP300 RCOR1 NFE2 MAFG TBP TCF7L2 NFE2L2 MAFF FAM161A ENSG00000230702 AHSA2P lnc-FAM161A-1 LOC105374760
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM161A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM161A

Top Transcription factor binding sites by QIAGEN in the FAM161A gene promoter:
  • AML1a
  • C/EBPbeta
  • CP2
  • ER-alpha
  • FOXC1
  • HNF-1
  • HNF-1A
  • LUN-1
  • SRF
  • SRY

Genomic Locations for FAM161A Gene

Genomic Locations for FAM161A Gene
chr2:61,744,556-61,855,402
(GRCh38/hg38)
Size:
110,847 bases
Orientation:
Minus strand
chr2:62,051,983-62,081,278
(GRCh37/hg19)
Size:
29,296 bases
Orientation:
Minus strand

Genomic View for FAM161A Gene

Genes around FAM161A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM161A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM161A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM161A Gene

Proteins for FAM161A Gene

  • Protein details for FAM161A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3B820-F161A_HUMAN
    Recommended name:
    Protein FAM161A
    Protein Accession:
    Q3B820
    Secondary Accessions:
    • B4DJV7
    • Q9H8R2

    Protein attributes for FAM161A Gene

    Size:
    660 amino acids
    Molecular mass:
    76752 Da
    Quaternary structure:
    • Interacts (via C-terminus) with microtubules. Interacts with LCA5, CEP290 and SDCCAG8. Interacts with FAM161B. Interacts with POC1B. Interacts with CEP78 (PubMed:27588451).
    SequenceCaution:
    • Sequence=BAG58969.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM161A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM161A Gene

Post-translational modifications for FAM161A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM161A Gene

Domains & Families for FAM161A Gene

Gene Families for FAM161A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FAM161A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM161A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM161A (F161A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3B820

UniProtKB/Swiss-Prot:

F161A_HUMAN :
  • Belongs to the FAM161 family.
Family:
  • Belongs to the FAM161 family.
genes like me logo Genes that share domains with FAM161A: view

Function for FAM161A Gene

Molecular function for FAM161A Gene

UniProtKB/Swiss-Prot Function:
Involved in ciliogenesis.

Phenotypes From GWAS Catalog for FAM161A Gene

Gene Ontology (GO) - Molecular Function for FAM161A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22791751
GO:0008017 microtubule binding IMP 22791751
GO:0042802 identical protein binding IPI,IDA 25416956
genes like me logo Genes that share ontologies with FAM161A: view
genes like me logo Genes that share phenotypes with FAM161A: view

Human Phenotype Ontology for FAM161A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAM161A Gene

MGI Knock Outs for FAM161A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM161A

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for FAM161A Gene

Localization for FAM161A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM161A Gene

Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM161A gene
Compartment Confidence
cytoskeleton 5
nucleus 3
mitochondrion 2
cytosol 2

Gene Ontology (GO) - Cellular Components for FAM161A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000235 astral microtubule IDA 22791751
GO:0001917 photoreceptor inner segment IDA 22791751
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FAM161A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM161A Gene

Pathways & Interactions for FAM161A Gene

PathCards logo

SuperPathways for FAM161A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM161A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0030030 cell projection organization IEA --
GO:0044782 cilium organization IBA 21873635
GO:0050896 response to stimulus IEA --
GO:0060271 cilium assembly IMP 22940612
genes like me logo Genes that share ontologies with FAM161A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM161A Gene

Drugs & Compounds for FAM161A Gene

No Compound Related Data Available

Transcripts for FAM161A Gene

mRNA/cDNA for FAM161A Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM161A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM161A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
SP1:
SP2: -
SP3: - -

Relevant External Links for FAM161A Gene

GeneLoc Exon Structure for
FAM161A

Expression for FAM161A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM161A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM161A Gene

This gene is overexpressed in Heart (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM161A Gene



Protein tissue co-expression partners for FAM161A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM161A

SOURCE GeneReport for Unigene cluster for FAM161A Gene:

Hs.440466

mRNA Expression by UniProt/SwissProt for FAM161A Gene:

Q3B820-F161A_HUMAN
Tissue specificity: Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the most abundant in all tissues tested.

Evidence on tissue expression from TISSUES for FAM161A Gene

  • Eye(4.4)
  • Nervous system(4.2)
  • Intestine(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM161A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with FAM161A: view

No data available for mRNA differential expression in normal tissues for FAM161A Gene

Orthologs for FAM161A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM161A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM161A 31 30
  • 99.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM161A 31 30
  • 85.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM161A 31 30
  • 84.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam161a 17 31 30
  • 69.25 (n)
rat
(Rattus norvegicus)
Mammalia Fam161a 30
  • 67.4 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM161A 31
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM161A 31
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM161A 31 30
  • 57.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM161A 31
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam161a 30
  • 53.16 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC558320 30
  • 48.54 (n)
FAM161A 31
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for FAM161A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM161A Gene

ENSEMBL:
Gene Tree for FAM161A (if available)
TreeFam:
Gene Tree for FAM161A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM161A: view image

Paralogs for FAM161A Gene

Paralogs for FAM161A Gene

genes like me logo Genes that share paralogs with FAM161A: view

Variants for FAM161A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM161A Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
647059 Pathogenic: not provided 61,842,207(-) AT/A FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
714957 Benign: not provided 61,839,453(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
715903 Benign: not provided 61,840,187(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
717824 Benign: not provided 61,840,098(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
718004 Benign: Retinitis pigmentosa 28; not provided 61,827,151(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for FAM161A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM161A Gene

Variant ID Type Subtype PubMed ID
esv1668096 CNV deletion 17803354
esv2602978 CNV deletion 19546169
esv2665789 CNV deletion 23128226
esv2720130 CNV deletion 23290073
esv34000 CNV loss 18971310
esv3591024 CNV loss 21293372
esv3591025 CNV loss 21293372
nsv458074 CNV gain 19166990
nsv470467 CNV gain 18288195
nsv582118 CNV gain 21841781
nsv582122 CNV gain 21841781
nsv582123 CNV gain 21841781
nsv7313 OTHER inversion 18451855

Variation tolerance for FAM161A Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.55; 86.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM161A Gene

Human Gene Mutation Database (HGMD)
FAM161A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM161A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM161A Gene

Disorders for FAM161A Gene

MalaCards: The human disease database

(11) MalaCards diseases for FAM161A Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 28
  • rp28
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy 2
  • cord2
inherited retinal disorder
  • retinal dystrophy
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

F161A_HUMAN
  • Retinitis pigmentosa 28 (RP28) [MIM:606068]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:20705278, ECO:0000269 PubMed:20705279}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FAM161A

genes like me logo Genes that share disorders with FAM161A: view

No data available for Genatlas for FAM161A Gene

Publications for FAM161A Gene

  1. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. (PMID: 22940612) Di Gioia SA … Rivolta C (Human molecular genetics 2012) 2 3 4 54
  2. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. (PMID: 20705278) Langmann T … Rivolta C (American journal of human genetics 2010) 2 3 4 54
  3. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. (PMID: 20705279) Bandah-Rozenfeld D … Sharon D (American journal of human genetics 2010) 2 3 4 54
  4. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. (PMID: 25018096) Roosing S … Cremers FP (American journal of human genetics 2014) 3 4 54
  5. The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. (PMID: 22791751) Zach F … Stöhr H (Human molecular genetics 2012) 3 4 54

Products for FAM161A Gene

  • Biorbyt antibodies for FAM161A

Sources for FAM161A Gene