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

Gene ID: 196951, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (49326970..49620818, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (47135181..47429199, complement)
105.20220307 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)

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

  • 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_2023_10

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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