U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    FAM217A family with sequence similarity 217 member A [ Homo sapiens (human) ]

    Gene ID: 222826, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    FAM217Aprovided by HGNC
    Official Full Name
    family with sequence similarity 217 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:21362
    See related
    Ensembl:ENSG00000145975 AllianceGenome:HGNC:21362
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C6orf146
    Expression
    Restricted expression toward testis (RPKM 7.9) See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See FAM217A in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (4068367..4087341, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3937669..3956636, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (4068601..4079371, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23896 Neighboring gene pre-mRNA processing factor kinase PRP4K Neighboring gene Sharpr-MPRA regulatory region 2502 Neighboring gene uncharacterized LOC124901553 Neighboring gene testis expressed 56, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9692 Neighboring gene enoyl-CoA delta isomerase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16860 Neighboring gene uncharacterized LOC107986559 Neighboring gene ECI2 divergent transcript

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article
    2. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC43581

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    protein FAM217A
    Names
    uncharacterized protein C6orf146

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_173563.3 → NP_775834.2  protein FAM217A

      Status: VALIDATED

      Source sequence(s)
      AL033383, BC039349
      Consensus CDS
      CCDS4489.1
      UniProtKB/Swiss-Prot
      Q5JYK1, Q8IXS0
      Related
      ENSP00000274673.3, ENST00000274673.8
      Conserved Domains (1) summary
      pfam15344
      Location:203 → 400
      FAM217; FAM217 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      4068367..4087341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514415.2 → XP_011512717.1  protein FAM217A isoform X4

      Related
      ENST00000380188.2
      Conserved Domains (1) summary
      pfam15344
      Location:193 → 390
      FAM217; FAM217 family

    2. XM_017010482.2 → XP_016865971.1  protein FAM217A isoform X1

      Conserved Domains (1) summary
      pfam15344
      Location:140 → 337
      FAM217; FAM217 family

    3. XM_011514414.4 → XP_011512716.1  protein FAM217A isoform X1

      Conserved Domains (1) summary
      pfam15344
      Location:140 → 337
      FAM217; FAM217 family

    4. XM_006715025.4 → XP_006715088.1  protein FAM217A isoform X1

      Conserved Domains (1) summary
      pfam15344
      Location:140 → 337
      FAM217; FAM217 family

    5. XM_011514417.3 → XP_011512719.1  protein FAM217A isoform X6

      Conserved Domains (1) summary
      pfam15344
      Location:155 → 352
      FAM217; FAM217 family

    6. XM_047418385.1 → XP_047274341.1  protein FAM217A isoform X1

    7. XM_005248951.5 → XP_005249008.1  protein FAM217A isoform X3

      Conserved Domains (1) summary
      pfam15344
      Location:194 → 391
      FAM217; FAM217 family

    8. XM_011514416.3 → XP_011512718.1  protein FAM217A isoform X5

      Conserved Domains (1) summary
      pfam15344
      Location:190 → 387
      FAM217; FAM217 family

    9. XM_006715026.4 → XP_006715089.1  protein FAM217A isoform X1

      Conserved Domains (1) summary
      pfam15344
      Location:140 → 337
      FAM217; FAM217 family

    10. XM_017010481.2 → XP_016865970.1  protein FAM217A isoform X3

      Conserved Domains (1) summary
      pfam15344
      Location:194 → 391
      FAM217; FAM217 family

    11. XM_017010480.3 → XP_016865969.1  protein FAM217A isoform X2

      UniProtKB/TrEMBL
      A0A1W2PRP4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      3937669..3956636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354673.1 → XP_054210648.1  protein FAM217A isoform X4

    2. XM_054354678.1 → XP_054210653.1  protein FAM217A isoform X1

    3. XM_054354669.1 → XP_054210644.1  protein FAM217A isoform X1

    4. XM_054354677.1 → XP_054210652.1  protein FAM217A isoform X1

    5. XM_054354675.1 → XP_054210650.1  protein FAM217A isoform X6

    6. XM_054354668.1 → XP_054210643.1  protein FAM217A isoform X1

    7. XM_054354671.1 → XP_054210646.1  protein FAM217A isoform X3

    8. XM_054354674.1 → XP_054210649.1  protein FAM217A isoform X5

    9. XM_054354676.1 → XP_054210651.1  protein FAM217A isoform X1

    10. XM_054354672.1 → XP_054210647.1  protein FAM217A isoform X3

    11. XM_054354670.1 → XP_054210645.1  protein FAM217A isoform X2

      UniProtKB/TrEMBL
      A0A1W2PRP4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXS0.2 GenPept UniProtKB/Swiss-Prot:Q8IXS0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools