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FAM217B family with sequence similarity 217 member B [ Homo sapiens (human) ]

Gene ID: 63939, updated on 17-Jun-2024

Summary

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Official Symbol
FAM217Bprovided by HGNC
Official Full Name
family with sequence similarity 217 member Bprovided by HGNC
Primary source
HGNC:HGNC:16170
See related
Ensembl:ENSG00000196227 AllianceGenome:HGNC:16170
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
C20orf177; dJ551D2.5
Summary
Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 13.3), testis (RPKM 5.2) and 23 other tissues See more
Orthologs
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Genomic context

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See FAM217B in Genome Data Viewer
Location:
20q13.33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (59933779..59948680)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (61718051..61732952)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (58508834..58523735)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 141 pseudogene Neighboring gene synaptonemal complex protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13091 Neighboring gene Sharpr-MPRA regulatory region 25 Neighboring gene protein phosphatase 1 regulatory subunit 3D Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:58529519-58530020 Neighboring gene cadherin 26 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:58569287-58569819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58611565-58612066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58612067-58612566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18193 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:58633003-58633804 Neighboring gene long intergenic non-protein coding RNA 2910

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. Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Rodriguez-Calado S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674791, Free PMC Article
  2. Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation. Lanzafame M, et al. Nucleic Acids Res, 2021 Nov 8. PMID 34581821, Free PMC Article
  3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article
  5. 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

See all (12) 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein FAM217B
Names
uncharacterized protein C20orf177

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_001190826.2 → NP_001177755.1  protein FAM217B isoform 1

    See identical proteins and their annotated locations for NP_001177755.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains additional 5' non-coding exons compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK074295, AK125073, AL109928, BC054002, CB242399
    Consensus CDS
    CCDS13484.1
    UniProtKB/Swiss-Prot
    B3KWH1, Q9NTA3, Q9NTX9
    UniProtKB/TrEMBL
    Q05CU2
    Related
    ENSP00000351040.3, ENST00000358293.7
    Conserved Domains (1) summary
    pfam15344
    Location:95 → 325
    FAM217; FAM217 family

  2. NM_001190827.2 → NP_001177756.1  protein FAM217B isoform 2

    See identical proteins and their annotated locations for NP_001177756.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate acceptor splice site at the 3' terminal coding exon compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and a shorter isoform (2) compared to isoform 1.
    Source sequence(s)
    AK074295, AK304220, AL109928, BC054002, CB242399
    UniProtKB/TrEMBL
    B4E2D0
    Conserved Domains (1) summary
    pfam15344
    Location:1 → 168
    FAM217; FAM217 family

  3. NM_022106.3 → NP_071389.1  protein FAM217B isoform 1

    See identical proteins and their annotated locations for NP_071389.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK074295, AL109928, BC054002, CB242399, DB476861
    Consensus CDS
    CCDS13484.1
    UniProtKB/Swiss-Prot
    B3KWH1, Q9NTA3, Q9NTX9
    UniProtKB/TrEMBL
    Q05CU2
    Related
    ENSP00000354056.3, ENST00000360816.8
    Conserved Domains (1) summary
    pfam15344
    Location:95 → 325
    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    59933779..59948680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    61718051..61732952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NTX9.1 GenPept UniProtKB/Swiss-Prot:Q9NTX9

Gene LinkOut

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