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

Gene ID: 222826, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
6p25.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (4068367..4087341, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3937669..3956636, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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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

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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Preferred Names
protein FAM217A
Names
uncharacterized protein C6orf146

NCBI Reference Sequences (RefSeq)

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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

    See identical proteins and their annotated locations for NP_775834.2

    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_2023_10

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

    See identical proteins and their annotated locations for XP_011512716.1

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

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

    See identical proteins and their annotated locations for XP_006715088.1

    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

    See identical proteins and their annotated locations for XP_006715089.1

    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

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

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