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FAM216B family with sequence similarity 216 member B [ Homo sapiens (human) ]

Gene ID: 144809, updated on 5-Mar-2024

Summary

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Official Symbol
FAM216Bprovided by HGNC
Official Full Name
family with sequence similarity 216 member Bprovided by HGNC
Primary source
HGNC:HGNC:26883
See related
Ensembl:ENSG00000179813 AllianceGenome:HGNC:26883
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
C13orf30
Expression
Biased expression in lung (RPKM 8.2), heart (RPKM 4.2) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
13q14.11
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (42781584..42791549)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (42001615..42011583)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (43355720..43365685)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene TNF superfamily member 11 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:43174688-43175887 Neighboring gene uncharacterized LOC124903163 Neighboring gene NANOG hESC enhancer GRCh37_chr13:43230228-43230808 Neighboring gene uncharacterized LOC124903164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7654 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:43306033-43306663 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:43336737-43337936 Neighboring gene uncharacterized LOC107984611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7655 Neighboring gene long intergenic non-protein coding RNA 1050

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. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (6) 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

  • FLJ40919, MGC138442

General protein information

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Preferred Names
protein FAM216B

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_001318932.2 → NP_001305861.1  protein FAM216B

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK098238, AL138819, CB240730, DB221838
    Consensus CDS
    CCDS9386.1
    UniProtKB/Swiss-Prot
    B1ALI3, Q8N7L0
    Related
    ENSP00000319336.1, ENST00000313851.3
    Conserved Domains (1) summary
    pfam15107
    Location:4 → 106
    FAM216B; FAM216B protein family

  2. NM_182508.3 → NP_872314.1  protein FAM216B

    See identical proteins and their annotated locations for NP_872314.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK098238, AK310859, AL138819, CB240730, DA592345, DB221838
    Consensus CDS
    CCDS9386.1
    UniProtKB/Swiss-Prot
    B1ALI3, Q8N7L0
    Related
    ENSP00000445786.1, ENST00000537894.5
    Conserved Domains (1) summary
    pfam15107
    Location:4 → 106
    FAM216B; FAM216B protein 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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    42781584..42791549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    42001615..42011583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N7L0.1 GenPept UniProtKB/Swiss-Prot:Q8N7L0

Gene LinkOut

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

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