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FAM214B family with sequence similarity 214 member B [ Homo sapiens (human) ]

Gene ID: 80256, updated on 29-Mar-2020

Summary

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Official Symbol
FAM214Bprovided by HGNC
Official Full Name
family with sequence similarity 214 member Bprovided by HGNC
Primary source
HGNC:HGNC:25666
See related
Ensembl:ENSG00000005238
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
KIAA1539
Expression
Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 6.4) and 24 other tissues See more
Orthologs
mouse all

Genomic context

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See FAM214B in Genome Data Viewer
Location:
9p13.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35104117..35116341, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35104118..35116338, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 90 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class O Neighboring gene stomatin like 2 Neighboring gene zinc finger protein 492 pseudogene Neighboring gene unc-13 homolog B Neighboring gene Sharpr-MPRA regulatory region 3537

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. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Apr 28. PMID 10819331
  2. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article
  3. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
  4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
  5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

See all (16) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

  • FLJ11560, KIAA1539

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein FAM214B

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_001317991.2 → NP_001304920.1  protein FAM214B

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL353795, AL583909, BC004406
    Consensus CDS
    CCDS6578.1
    UniProtKB/Swiss-Prot
    Q7L5A3
    Related
    ENSP00000367819.1, ENST00000378557.1
    Conserved Domains (2) summary
    pfam13889
    Location:480 → 536
    Chromosome_seg; Chromosome segregation during meiosis
    pfam13915
    Location:348 → 402
    DUF4210; Domain of unknown function (DUF4210)

  2. NM_025182.4 → NP_079458.2  protein FAM214B

    See identical proteins and their annotated locations for NP_079458.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL353795, BC004406
    Consensus CDS
    CCDS6578.1
    UniProtKB/Swiss-Prot
    Q7L5A3
    Related
    ENSP00000319897.5, ENST00000322813.9
    Conserved Domains (2) summary
    pfam13889
    Location:480 → 536
    Chromosome_seg; Chromosome segregation during meiosis
    pfam13915
    Location:348 → 402
    DUF4210; Domain of unknown function (DUF4210)

RNA

  1. NR_134455.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses alternate splice sites in multiple exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK022837, AL353795, BC004406, DA804086
    Related
    ENST00000378566.5

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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    35104117..35116341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251591.1 → XP_005251648.1  protein FAM214B isoform X1

    See identical proteins and their annotated locations for XP_005251648.1

    UniProtKB/Swiss-Prot
    Q7L5A3
    Related
    ENSP00000474833.1, ENST00000605244.5
    Conserved Domains (2) summary
    pfam13889
    Location:480 → 536
    Chromosome_seg; Chromosome segregation during meiosis
    pfam13915
    Location:348 → 402
    DUF4210; Domain of unknown function (DUF4210)

  2. XM_024447689.1 → XP_024303457.1  protein FAM214B isoform X1

    Conserved Domains (2) summary
    pfam13889
    Location:480 → 536
    Chromosome_seg; Chromosome segregation during meiosis
    pfam13915
    Location:348 → 402
    DUF4210; Domain of unknown function (DUF4210)

  3. XM_005251588.1 → XP_005251645.1  protein FAM214B isoform X1

    See identical proteins and their annotated locations for XP_005251645.1

    UniProtKB/Swiss-Prot
    Q7L5A3
    Conserved Domains (2) summary
    pfam13889
    Location:480 → 536
    Chromosome_seg; Chromosome segregation during meiosis
    pfam13915
    Location:348 → 402
    DUF4210; Domain of unknown function (DUF4210)

  4. XM_011518037.1 → XP_011516339.1  protein FAM214B isoform X1

    See identical proteins and their annotated locations for XP_011516339.1

    UniProtKB/Swiss-Prot
    Q7L5A3
    Related
    ENSP00000475120.1, ENST00000488109.6
    Conserved Domains (2) summary
    pfam13889
    Location:480 → 536
    Chromosome_seg; Chromosome segregation during meiosis
    pfam13915
    Location:348 → 402
    DUF4210; Domain of unknown function (DUF4210)

  5. XM_005251590.1 → XP_005251647.1  protein FAM214B isoform X1

    See identical proteins and their annotated locations for XP_005251647.1

    UniProtKB/Swiss-Prot
    Q7L5A3
    Conserved Domains (2) summary
    pfam13889
    Location:480 → 536
    Chromosome_seg; Chromosome segregation during meiosis
    pfam13915
    Location:348 → 402
    DUF4210; Domain of unknown function (DUF4210)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7L5A3.1 GenPept UniProtKB/Swiss-Prot:Q7L5A3

Gene LinkOut

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