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    FAM227B family with sequence similarity 227 member B [ Homo sapiens (human) ]

    Gene ID: 196951, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM227Bprovided by HGNC
    Official Full Name
    family with sequence similarity 227 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:26543
    See related
    Ensembl:ENSG00000166262 AllianceGenome:HGNC:26543
    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
    C15orf33
    Expression
    Ubiquitous expression in testis (RPKM 2.0), kidney (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM227B in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (49326970..49620818, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (47135181..47429199, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (49619167..49913015, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6422 Neighboring gene MPRA-validated peak2332 silencer Neighboring gene RPL15 pseudogene 19 Neighboring gene galactokinase 2 Neighboring gene RNA, 7SL, cytoplasmic 307, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:49523773-49524444 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:49524445-49525115 Neighboring gene Sharpr-MPRA regulatory region 5673 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:49557847-49559046 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:49646702-49647347 Neighboring gene signal peptide peptidase like 2A pseudogene Neighboring gene OCT4 hESC enhancer GRCh37_chr15:49664491-49665044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:49671731-49672256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:49672257-49672781 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:49688382-49688895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9387 Neighboring gene fibroblast growth factor 7 Neighboring gene uncharacterized LOC105370811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9388 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:49917323-49918522 Neighboring gene DTW domain containing 1 Neighboring gene NANOG hESC enhancer GRCh37_chr15:49990770-49991300 Neighboring gene ring finger protein, LIM domain interacting pseudogene 3

    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. Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. Teumer A, et al. Am J Hum Genet, 2011 May 13. PMID 21565293, Free PMC Article
    2. A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. Porcu E, et al. PLoS Genet, 2013. PMID 23408906, Free PMC Article
    3. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32800, MGC57432

    General protein information

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    Preferred Names
    protein FAM227B

    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_001330293.2 → NP_001317222.1  protein FAM227B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences, compared to variant 1. The encoded isoform (2) is shorter, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC022306, BC048125
      Consensus CDS
      CCDS81880.1
      UniProtKB/Swiss-Prot
      Q96M60
      Related
      ENSP00000453028.1, ENST00000561064.5
      Conserved Domains (1) summary
      pfam14922
      Location:159 → 270
      FWWh; Protein of unknown function

    2. NM_152647.3 → NP_689860.2  protein FAM227B isoform 1

      See identical proteins and their annotated locations for NP_689860.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC022306, AK057362, BC048125, BG182490
      Consensus CDS
      CCDS32237.1
      UniProtKB/Swiss-Prot
      Q86WS2, Q96M60
      Related
      ENSP00000299338.6, ENST00000299338.11
      Conserved Domains (1) summary
      pfam14922
      Location:148 → 304
      FWWh; Protein of unknown function

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      49326970..49620818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432224.1 → XP_047288180.1  protein FAM227B isoform X8

    2. XM_047432222.1 → XP_047288178.1  protein FAM227B isoform X5

    3. XM_047432221.1 → XP_047288177.1  protein FAM227B isoform X4

    4. XM_005254214.4 → XP_005254271.1  protein FAM227B isoform X1

      See identical proteins and their annotated locations for XP_005254271.1

      Conserved Domains (2) summary
      pfam14922
      Location:159 → 304
      FWWh; Protein of unknown function
      pfam17664
      Location:423 → 489
      DUF5526; Family of unknown function (DUF5526)

    5. XM_006720423.4 → XP_006720486.1  protein FAM227B isoform X1

      See identical proteins and their annotated locations for XP_006720486.1

      Conserved Domains (2) summary
      pfam14922
      Location:159 → 304
      FWWh; Protein of unknown function
      pfam17664
      Location:423 → 489
      DUF5526; Family of unknown function (DUF5526)

    6. XM_047432220.1 → XP_047288176.1  protein FAM227B isoform X1

    7. XM_017021994.2 → XP_016877483.1  protein FAM227B isoform X8

    8. XM_017021990.2 → XP_016877479.1  protein FAM227B isoform X6

    9. XM_006720426.3 → XP_006720489.1  protein FAM227B isoform X5

      Conserved Domains (1) summary
      pfam14922
      Location:139 → 257
      FWWh; Protein of unknown function

    10. XM_005254215.4 → XP_005254272.1  protein FAM227B isoform X2

      Conserved Domains (1) summary
      pfam14922
      Location:136 → 292
      FWWh; Protein of unknown function

    11. XM_005254216.4 → XP_005254273.1  protein FAM227B isoform X3

      Conserved Domains (1) summary
      pfam14922
      Location:148 → 270
      FWWh; Protein of unknown function

    12. XM_005254213.4 → XP_005254270.1  protein FAM227B isoform X1

      See identical proteins and their annotated locations for XP_005254270.1

      Conserved Domains (2) summary
      pfam14922
      Location:159 → 304
      FWWh; Protein of unknown function
      pfam17664
      Location:423 → 489
      DUF5526; Family of unknown function (DUF5526)

    13. XM_017021996.2 → XP_016877485.1  protein FAM227B isoform X10

      Conserved Domains (1) summary
      pfam14922
      Location:14 → 170
      FWWh; Protein of unknown function

    14. XM_047432223.1 → XP_047288179.1  protein FAM227B isoform X7

    15. XM_011521322.2 → XP_011519624.1  protein FAM227B isoform X12

      Conserved Domains (1) summary
      pfam14922
      Location:2 → 158
      FWWh; Protein of unknown function

    16. XM_011521320.2 → XP_011519622.1  protein FAM227B isoform X10

      Conserved Domains (1) summary
      pfam14922
      Location:14 → 170
      FWWh; Protein of unknown function

    17. XM_047432225.1 → XP_047288181.1  protein FAM227B isoform X13

    18. XM_017021995.2 → XP_016877484.1  protein FAM227B isoform X9

    19. XM_011521321.3 → XP_011519623.1  protein FAM227B isoform X11

      Conserved Domains (1) summary
      pfam14922
      Location:148 → 304
      FWWh; Protein of unknown function

    20. XM_024449865.2 → XP_024305633.1  protein FAM227B isoform X19

      Conserved Domains (1) summary
      pfam14922
      Location:137 → 257
      FWWh; Protein of unknown function

    21. XM_047432228.1 → XP_047288184.1  protein FAM227B isoform X18

    22. XM_011521324.2 → XP_011519626.1  protein FAM227B isoform X16

      See identical proteins and their annotated locations for XP_011519626.1

      Conserved Domains (1) summary
      pfam14922
      Location:148 → 304
      FWWh; Protein of unknown function

    23. XM_047432227.1 → XP_047288183.1  protein FAM227B isoform X14

    24. XM_011521325.4 → XP_011519627.1  protein FAM227B isoform X15

      Conserved Domains (1) summary
      pfam14922
      Location:148 → 304
      FWWh; Protein of unknown function

    25. XM_047432226.1 → XP_047288182.1  protein FAM227B isoform X14

    26. XM_024449863.2 → XP_024305631.1  protein FAM227B isoform X17

      Conserved Domains (1) summary
      pfam14922
      Location:159 → 270
      FWWh; Protein of unknown function

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      47135181..47429199 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377454.1 → XP_054233429.1  protein FAM227B isoform X8

    2. XM_054377450.1 → XP_054233425.1  protein FAM227B isoform X5

    3. XM_054377448.1 → XP_054233423.1  protein FAM227B isoform X4

    4. XM_054377442.1 → XP_054233417.1  protein FAM227B isoform X1

    5. XM_054377445.1 → XP_054233420.1  protein FAM227B isoform X1

    6. XM_054377444.1 → XP_054233419.1  protein FAM227B isoform X1

    7. XM_054377453.1 → XP_054233428.1  protein FAM227B isoform X8

    8. XM_054377451.1 → XP_054233426.1  protein FAM227B isoform X6

    9. XM_054377449.1 → XP_054233424.1  protein FAM227B isoform X5

    10. XM_054377446.1 → XP_054233421.1  protein FAM227B isoform X2

    11. XM_054377447.1 → XP_054233422.1  protein FAM227B isoform X3

    12. XM_054377443.1 → XP_054233418.1  protein FAM227B isoform X1

    13. XM_054377456.1 → XP_054233431.1  protein FAM227B isoform X10

    14. XM_054377452.1 → XP_054233427.1  protein FAM227B isoform X7

    15. XM_054377459.1 → XP_054233434.1  protein FAM227B isoform X12

    16. XM_054377457.1 → XP_054233432.1  protein FAM227B isoform X10

    17. XM_054377460.1 → XP_054233435.1  protein FAM227B isoform X13

    18. XM_054377455.1 → XP_054233430.1  protein FAM227B isoform X9

    19. XM_054377458.1 → XP_054233433.1  protein FAM227B isoform X11

    20. XM_054377470.1 → XP_054233445.1  protein FAM227B isoform X19

    21. XM_054377468.1 → XP_054233443.1  protein FAM227B isoform X18

    22. XM_054377466.1 → XP_054233441.1  protein FAM227B isoform X16

    23. XM_054377464.1 → XP_054233439.1  protein FAM227B isoform X14

    24. XM_054377465.1 → XP_054233440.1  protein FAM227B isoform X15

    25. XM_054377463.1 → XP_054233438.1  protein FAM227B isoform X14

    26. XM_054377469.1 → XP_054233444.1  protein FAM227B isoform X21

    27. XM_054377467.1 → XP_054233442.1  protein FAM227B isoform X17

    28. XM_054377462.1 → XP_054233437.1  protein FAM227B isoform X20

    29. XM_054377461.1 → XP_054233436.1  protein FAM227B isoform X20

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M60.2 GenPept UniProtKB/Swiss-Prot:Q96M60

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