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FAM227A family with sequence similarity 227 member A [ Homo sapiens (human) ]

Gene ID: 646851, updated on 27-Nov-2024

Summary

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Official Symbol
FAM227Aprovided by HGNC
Official Full Name
family with sequence similarity 227 member Aprovided by HGNC
Primary source
HGNC:HGNC:44197
See related
Ensembl:ENSG00000184949 AllianceGenome:HGNC:44197
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
Expression
Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.5) and 11 other tissues See more
Orthologs
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Genomic context

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See FAM227A in Genome Data Viewer
Location:
22q13.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38578118..38656392, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39042376..39126576, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38974123..39052397, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38966777-38967287 Neighboring gene ribosomal protein S29 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19014 Neighboring gene MPRA-validated peak4492 silencer Neighboring gene MPRA-validated peak4493 silencer Neighboring gene chibby 1, beta catenin antagonist Neighboring gene TOMM22 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39077750-39078949

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. A quantitative atlas of mitotic phosphorylation. Dephoure N, et al. Proc Natl Acad Sci U S A, 2008 Aug 5. PMID 18669648, Free PMC Article
  2. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
  3. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  5. 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

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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37761

General protein information

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Preferred Names
protein FAM227A
Names
Protein FAM227A

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_001013647.2 → NP_001013669.1  protein FAM227A isoform 1

    See identical proteins and their annotated locations for NP_001013669.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK301819, AL022320, DA378202, DB053353, DV080205
    Consensus CDS
    CCDS93164.1
    UniProtKB/Swiss-Prot
    B0QY52, B7Z7C6, F5H4B4, Q5TG08
    UniProtKB/TrEMBL
    A0A2R8YCE3
    Related
    ENSP00000445093.1, ENST00000535113.7
    Conserved Domains (1) summary
    pfam14922
    Location:146 → 296
    FWWh; Protein of unknown function

  2. NM_001291030.2 → NP_001277959.1  protein FAM227A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK301819, AL022320, DA378202, DV080205
    UniProtKB/Swiss-Prot
    F5H4B4
    Conserved Domains (1) summary
    pfam14922
    Location:42 → 203
    FWWh; Protein of unknown function

  3. NM_001384270.1 → NP_001371199.1  protein FAM227A isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL021707, AL022320, AL035495
    UniProtKB/TrEMBL
    A0A2R8YCE3
    Conserved Domains (1) summary
    pfam14922
    Location:53 → 203
    FWWh; Protein of unknown function

  4. NM_001384271.1 → NP_001371200.1  protein FAM227A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL021707, AL022320, AL035495
    Conserved Domains (1) summary
    pfam14922
    Location:1 → 104
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    38578118..38656392 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441459.1 → XP_047297415.1  protein FAM227A isoform X9

  2. XM_011530311.2 → XP_011528613.1  protein FAM227A isoform X6

    UniProtKB/TrEMBL
    A0A0A0MRD0
    Conserved Domains (1) summary
    pfam14922
    Location:94 → 255
    FWWh; Protein of unknown function

  3. XM_047441456.1 → XP_047297412.1  protein FAM227A isoform X5

  4. XM_011530310.2 → XP_011528612.1  protein FAM227A isoform X4

    UniProtKB/TrEMBL
    A0A0A0MRD0
    Conserved Domains (1) summary
    pfam14922
    Location:135 → 261
    FWWh; Protein of unknown function

  5. XM_006724292.3 → XP_006724355.2  protein FAM227A isoform X2

    UniProtKB/TrEMBL
    A0A0A0MRD0
    Conserved Domains (1) summary
    pfam14922
    Location:135 → 296
    FWWh; Protein of unknown function

  6. XM_011530309.3 → XP_011528611.1  protein FAM227A isoform X3

    UniProtKB/TrEMBL
    A0A0A0MRD0
    Related
    ENSP00000348086.7, ENST00000355830.11
    Conserved Domains (1) summary
    pfam14922
    Location:135 → 296
    FWWh; Protein of unknown function

  7. XM_006724291.3 → XP_006724354.2  protein FAM227A isoform X1

    See identical proteins and their annotated locations for XP_006724354.2

    UniProtKB/TrEMBL
    A0A0A0MRD0
    Conserved Domains (1) summary
    pfam14922
    Location:135 → 296
    FWWh; Protein of unknown function

  8. XM_011530308.4 → XP_011528610.1  protein FAM227A isoform X1

    See identical proteins and their annotated locations for XP_011528610.1

    UniProtKB/TrEMBL
    A0A0A0MRD0
    Conserved Domains (1) summary
    pfam14922
    Location:135 → 296
    FWWh; Protein of unknown function

  9. XM_011530313.3 → XP_011528615.1  protein FAM227A isoform X7

    See identical proteins and their annotated locations for XP_011528615.1

    UniProtKB/TrEMBL
    A0A0A0MRD0
    Conserved Domains (1) summary
    pfam14922
    Location:42 → 203
    FWWh; Protein of unknown function

  10. XM_011530312.3 → XP_011528614.1  protein FAM227A isoform X7

    See identical proteins and their annotated locations for XP_011528614.1

    UniProtKB/TrEMBL
    A0A0A0MRD0
    Conserved Domains (1) summary
    pfam14922
    Location:42 → 203
    FWWh; Protein of unknown function

  11. XM_047441458.1 → XP_047297414.1  protein FAM227A isoform X8

  12. XM_047441457.1 → XP_047297413.1  protein FAM227A isoform X7

RNA

  1. XR_937892.2 RNA Sequence

    Related
    ENST00000544346.5

  2. XR_937893.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    39042376..39126576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325831.1 → XP_054181806.1  protein FAM227A isoform X9

  2. XM_054325826.1 → XP_054181801.1  protein FAM227A isoform X6

  3. XM_054325825.1 → XP_054181800.1  protein FAM227A isoform X5

  4. XM_054325824.1 → XP_054181799.1  protein FAM227A isoform X4

  5. XM_054325822.1 → XP_054181797.1  protein FAM227A isoform X2

  6. XM_054325823.1 → XP_054181798.1  protein FAM227A isoform X3

  7. XM_054325820.1 → XP_054181795.1  protein FAM227A isoform X1

  8. XM_054325821.1 → XP_054181796.1  protein FAM227A isoform X1

  9. XM_054325829.1 → XP_054181804.1  protein FAM227A isoform X7

  10. XM_054325827.1 → XP_054181802.1  protein FAM227A isoform X7

  11. XM_054325830.1 → XP_054181805.1  protein FAM227A isoform X8

  12. XM_054325828.1 → XP_054181803.1  protein FAM227A isoform X7

RNA

  1. XR_008485408.1 RNA Sequence

  2. XR_008485409.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
F5H4B4.1 GenPept UniProtKB/Swiss-Prot:F5H4B4

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