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

Gene ID: 63939, updated on 1-Jun-2020

Summary

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
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
Expression
Ubiquitous expression in brain (RPKM 13.3), testis (RPKM 5.2) and 23 other tissues See more
Orthologs

Genomic context

See FAM217B in Genome Data Viewer
Location:
20q13.33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (59933769..59948680)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (58508819..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 protein phosphatase 1 regulatory subunit 3D Neighboring gene cadherin 26 Neighboring gene chromosome 20 putative open reading frame 197

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein FAM217B
Names
uncharacterized protein C20orf177

NCBI Reference Sequences (RefSeq)

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_001190826.2NP_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
    Q9NTX9
    Related
    ENSP00000351040.3, ENST00000358293.7
    Conserved Domains (1) summary
    pfam15344
    Location:95325
    FAM217; FAM217 family
  2. NM_001190827.1NP_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/Swiss-Prot
    Q9NTX9
    UniProtKB/TrEMBL
    B4E2D0
    Conserved Domains (1) summary
    pfam15344
    Location:1168
    FAM217; FAM217 family
  3. NM_022106.3NP_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
    Q9NTX9
    Related
    ENSP00000354056.3, ENST00000360816.8
    Conserved Domains (1) summary
    pfam15344
    Location:95325
    FAM217; FAM217 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    59933769..59948680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528986.2XP_011527288.1  protein FAM217B isoform X1

    See identical proteins and their annotated locations for XP_011527288.1

    Conserved Domains (1) summary
    pfam15344
    Location:109339
    FAM217; FAM217 family
  2. XM_011528985.3XP_011527287.1  protein FAM217B isoform X1

    See identical proteins and their annotated locations for XP_011527287.1

    Conserved Domains (1) summary
    pfam15344
    Location:109339
    FAM217; FAM217 family
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