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    FAM221A family with sequence similarity 221 member A [ Homo sapiens (human) ]

    Gene ID: 340277, updated on 17-Sep-2024

    Summary

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    Official Symbol
    FAM221Aprovided by HGNC
    Official Full Name
    family with sequence similarity 221 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:27977
    See related
    Ensembl:ENSG00000188732 AllianceGenome:HGNC:27977
    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
    C7orf46
    Expression
    Broad expression in testis (RPKM 6.7), stomach (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM221A in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23680199..23703249)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23819482..23842521)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23719818..23742269)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18014 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:23645851-23645985 Neighboring gene coiled-coil domain containing 126 Neighboring gene FCF1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:23694754-23695254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25739 Neighboring gene NANOG hESC enhancer GRCh37_chr7:23763155-23763682 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:23763683-23764210 Neighboring gene serine/threonine kinase 31 Neighboring gene protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 3 Neighboring gene MPRA-validated peak6439 silencer Neighboring gene TPT1 pseudogene 7

    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 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. Protein interactome reveals converging molecular pathways among autism disorders. Sakai Y, et al. Sci Transl Med, 2011 Jun 8. PMID 21653829, Free PMC Article
    2. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (11) 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

    • FLJ45875, MGC72075, DKFZp686F0810

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM221A
    Names
    uncharacterized protein C7orf46

    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_001127364.3 → NP_001120836.1  protein FAM221A isoform 2

      See identical proteins and their annotated locations for NP_001120836.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      BC026000, BC042034, DB538373
      Consensus CDS
      CCDS47561.1
      Related
      ENSP00000386927.3, ENST00000409192.7
      Conserved Domains (1) summary
      pfam14753
      Location:20 → 212
      DUF4475; Domain of unknown function (DUF4475)

    2. NM_001127365.3 → NP_001120837.1  protein FAM221A isoform 3

      See identical proteins and their annotated locations for NP_001120837.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      BC026000, BC042034, DB538373, HY056255
      Consensus CDS
      CCDS47562.1
      UniProtKB/Swiss-Prot
      A4D161
      Related
      ENSP00000386631.3, ENST00000409994.3
      Conserved Domains (1) summary
      pfam14753
      Location:22 → 154
      DUF4475; Domain of unknown function (DUF4475)

    3. NM_001300932.2 → NP_001287861.1  protein FAM221A isoform 4

      See identical proteins and their annotated locations for NP_001287861.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
      Source sequence(s)
      AI370799, BC042034, BC063130, BU958830, HY056255
      Consensus CDS
      CCDS75570.1
      UniProtKB/TrEMBL
      B8ZZQ8
      Related
      ENSP00000386900.1, ENST00000409653.5
      Conserved Domains (1) summary
      pfam14753
      Location:22 → 156
      DUF4475; Domain of unknown function (DUF4475)

    4. NM_199136.5 → NP_954587.2  protein FAM221A isoform 1

      See identical proteins and their annotated locations for NP_954587.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI370799, BC042034, BC063130, HY056255
      Consensus CDS
      CCDS5385.1
      UniProtKB/Swiss-Prot
      A4D161, Q05CG4, Q4G0Q7, Q6P519
      Related
      ENSP00000342576.4, ENST00000344962.9
      Conserved Domains (1) summary
      pfam14753
      Location:20 → 214
      DUF4475; Domain of unknown function (DUF4475)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      23680199..23703249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515369.3 → XP_011513671.1  protein FAM221A isoform X1

      See identical proteins and their annotated locations for XP_011513671.1

      UniProtKB/Swiss-Prot
      A4D161, Q05CG4, Q4G0Q7, Q6P519
      Conserved Domains (1) summary
      pfam14753
      Location:20 → 214
      DUF4475; Domain of unknown function (DUF4475)

    2. XM_017012134.2 → XP_016867623.1  protein FAM221A isoform X3

      Conserved Domains (1) summary
      pfam14753
      Location:20 → 212
      DUF4475; Domain of unknown function (DUF4475)

    3. XM_011515370.3 → XP_011513672.1  protein FAM221A isoform X2

      Conserved Domains (1) summary
      pfam14753
      Location:20 → 214
      DUF4475; Domain of unknown function (DUF4475)

    4. XM_011515371.3 → XP_011513673.1  protein FAM221A isoform X4

      See identical proteins and their annotated locations for XP_011513673.1

      Conserved Domains (1) summary
      pfam14753
      Location:20 → 213
      DUF4475; Domain of unknown function (DUF4475)

    5. XM_047420316.1 → XP_047276272.1  protein FAM221A isoform X6

    6. XM_047420317.1 → XP_047276273.1  protein FAM221A isoform X8

    7. XM_047420315.1 → XP_047276271.1  protein FAM221A isoform X5

    8. XM_011515372.3 → XP_011513674.1  protein FAM221A isoform X7

      Conserved Domains (1) summary
      pfam14753
      Location:1 → 151
      DUF4475; Domain of unknown function (DUF4475)

    9. XM_017012135.2 → XP_016867624.1  protein FAM221A isoform X9

    RNA

    1. XR_428081.4 RNA Sequence

    2. XR_002956430.2 RNA Sequence

    3. XR_002956431.2 RNA Sequence

    4. XR_007060019.1 RNA Sequence

    5. XR_007060020.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      23819482..23842521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358096.1 → XP_054214071.1  protein FAM221A isoform X1

      UniProtKB/Swiss-Prot
      A4D161, Q05CG4, Q4G0Q7, Q6P519

    2. XM_054358098.1 → XP_054214073.1  protein FAM221A isoform X3

    3. XM_054358097.1 → XP_054214072.1  protein FAM221A isoform X2

    4. XM_054358099.1 → XP_054214074.1  protein FAM221A isoform X4

    5. XM_054358101.1 → XP_054214076.1  protein FAM221A isoform X6

    6. XM_054358103.1 → XP_054214078.1  protein FAM221A isoform X8

    7. XM_054358100.1 → XP_054214075.1  protein FAM221A isoform X5

    8. XM_054358102.1 → XP_054214077.1  protein FAM221A isoform X7

    9. XM_054358104.1 → XP_054214079.1  protein FAM221A isoform X9

    RNA

    1. XR_008487592.1 RNA Sequence

    2. XR_008487593.1 RNA Sequence

    3. XR_008487596.1 RNA Sequence

    4. XR_008487594.1 RNA Sequence

    5. XR_008487595.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4D161.1 GenPept UniProtKB/Swiss-Prot:A4D161

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