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

Gene ID: 196951, updated on 5-Aug-2022

Summary

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

See FAM227B in Genome Data Viewer
Location:
15q21.2
Exon count:
23
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (49326970..49620818, complement)
110 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 galactokinase 2 Neighboring gene RNA, 7SL, cytoplasmic 307, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5673 Neighboring gene signal peptide peptidase like 2A pseudogene Neighboring gene fibroblast growth factor 7 Neighboring gene uncharacterized LOC105370811 Neighboring gene DTW domain containing 1 Neighboring gene ring finger protein, LIM domain interacting pseudogene 3

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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32800, MGC57432

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_001330293.2NP_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:159270
    FWWh; Protein of unknown function
  2. NM_152647.3NP_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:148304
    FWWh; Protein of unknown function

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047432224.1XP_047288180.1  protein FAM227B isoform X8

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

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

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

    See identical proteins and their annotated locations for XP_005254271.1

    Conserved Domains (2) summary
    pfam14922
    Location:159304
    FWWh; Protein of unknown function
    pfam17664
    Location:423489
    DUF5526; Family of unknown function (DUF5526)
  5. XM_006720423.4XP_006720486.1  protein FAM227B isoform X1

    See identical proteins and their annotated locations for XP_006720486.1

    Conserved Domains (2) summary
    pfam14922
    Location:159304
    FWWh; Protein of unknown function
    pfam17664
    Location:423489
    DUF5526; Family of unknown function (DUF5526)
  6. XM_047432220.1XP_047288176.1  protein FAM227B isoform X1

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

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

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

    Conserved Domains (1) summary
    pfam14922
    Location:139257
    FWWh; Protein of unknown function
  10. XM_005254215.4XP_005254272.1  protein FAM227B isoform X2

    Conserved Domains (1) summary
    pfam14922
    Location:136292
    FWWh; Protein of unknown function
  11. XM_005254216.4XP_005254273.1  protein FAM227B isoform X3

    Conserved Domains (1) summary
    pfam14922
    Location:148270
    FWWh; Protein of unknown function
  12. XM_005254213.4XP_005254270.1  protein FAM227B isoform X1

    See identical proteins and their annotated locations for XP_005254270.1

    Conserved Domains (2) summary
    pfam14922
    Location:159304
    FWWh; Protein of unknown function
    pfam17664
    Location:423489
    DUF5526; Family of unknown function (DUF5526)
  13. XM_017021996.2XP_016877485.1  protein FAM227B isoform X10

    Conserved Domains (1) summary
    pfam14922
    Location:14170
    FWWh; Protein of unknown function
  14. XM_047432223.1XP_047288179.1  protein FAM227B isoform X7

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

    Conserved Domains (1) summary
    pfam14922
    Location:2158
    FWWh; Protein of unknown function
  16. XM_011521320.2XP_011519622.1  protein FAM227B isoform X10

    Conserved Domains (1) summary
    pfam14922
    Location:14170
    FWWh; Protein of unknown function
  17. XM_047432225.1XP_047288181.1  protein FAM227B isoform X13

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

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

    Conserved Domains (1) summary
    pfam14922
    Location:148304
    FWWh; Protein of unknown function
  20. XM_024449865.2XP_024305633.1  protein FAM227B isoform X19

    Conserved Domains (1) summary
    pfam14922
    Location:137257
    FWWh; Protein of unknown function
  21. XM_047432228.1XP_047288184.1  protein FAM227B isoform X18

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

    See identical proteins and their annotated locations for XP_011519626.1

    Conserved Domains (1) summary
    pfam14922
    Location:148304
    FWWh; Protein of unknown function
  23. XM_047432227.1XP_047288183.1  protein FAM227B isoform X14

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

    Conserved Domains (1) summary
    pfam14922
    Location:148304
    FWWh; Protein of unknown function
  25. XM_047432226.1XP_047288182.1  protein FAM227B isoform X14

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

    Conserved Domains (1) summary
    pfam14922
    Location:159270
    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)