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    FAM114A2 family with sequence similarity 114 member A2 [ Homo sapiens (human) ]

    Gene ID: 10827, updated on 10-Oct-2024

    Summary

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    Official Symbol
    FAM114A2provided by HGNC
    Official Full Name
    family with sequence similarity 114 member A2provided by HGNC
    Primary source
    HGNC:HGNC:1333
    See related
    Ensembl:ENSG00000055147 AllianceGenome:HGNC:1333
    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
    133K02; C5orf3
    Expression
    Ubiquitous expression in testis (RPKM 7.5), thyroid (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM114A2 in Genome Data Viewer
    Location:
    5q33.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (153990148..154038910, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (154523283..154572056, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153369708..153418470, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153338304-153338911 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153338912-153339518 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153339519-153340125 Neighboring gene uncharacterized LOC107983980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23471 Neighboring gene microfibril associated protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23472 Neighboring gene NANOG hESC enhancer GRCh37_chr5:153465203-153465708 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153486570-153487566 Neighboring gene Sharpr-MPRA regulatory region 747 Neighboring gene uncharacterized LOC124901118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153568703-153569668

    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. miR-497 promotes the progression of cutaneous squamous cell carcinoma through FAM114A2. Wei XH, et al. Eur Rev Med Pharmacol Sci, 2018 Nov. PMID 30468480
    2. The FAM114A proteins are adaptors for the recycling of Golgi enzymes. Welch LG, et al. J Cell Sci, 2024 Sep 1. PMID 39129673, Free PMC Article
    3. Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. Boultwood J, et al. Genomics, 2000 May 15. PMID 10843801
    4. Rho-associated protein kinase-dependent moesin phosphorylation is required for PD-L1 stabilization in breast cancer. Meng F, et al. Mol Oncol, 2020 Nov. PMID 32941674, Free PMC Article
    5. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. Pech MF, et al. Elife, 2019 Aug 27. PMID 31452512, Free PMC Article

    See all (34) 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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables purine nucleotide binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM114A2
    Names
    testis tissue sperm-binding protein Li 81P

    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_001317993.2 → NP_001304922.1  protein FAM114A2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AC010232, AK095446, BC011414, CA441690, DA351656, DB022316
      Consensus CDS
      CCDS4323.1
      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Related
      ENSP00000430384.1, ENST00000520667.5
      Conserved Domains (1) summary
      pfam05334
      Location:80 → 247
      DUF719; Protein of unknown function (DUF719)

    2. NM_001317994.2 → NP_001304923.1  protein FAM114A2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AC010232, AF159700, AK095446, BC011414, CA441690, DA351656, DB028061, DC346688
      Consensus CDS
      CCDS4323.1
      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Related
      ENSP00000430489.1, ENST00000522858.5
      Conserved Domains (1) summary
      pfam05334
      Location:80 → 247
      DUF719; Protein of unknown function (DUF719)

    3. NM_001317995.2 → NP_001304924.1  protein FAM114A2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites and lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC010232, AK095446, AK298943, BC011414, CA441690, DA351656
      Consensus CDS
      CCDS83036.1
      UniProtKB/TrEMBL
      B4DQT0, E7ESJ7
      Related
      ENSP00000429088.1, ENST00000520313.5
      Conserved Domains (1) summary
      pfam05334
      Location:27 → 177
      DUF719; Protein of unknown function (DUF719)

    4. NM_018691.4 → NP_061161.2  protein FAM114A2 isoform 1

      See identical proteins and their annotated locations for NP_061161.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AC010232, AK024664, BC050701, DA351656
      Consensus CDS
      CCDS4323.1
      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Related
      ENSP00000341597.4, ENST00000351797.9
      Conserved Domains (1) summary
      pfam05334
      Location:80 → 247
      DUF719; Protein of unknown function (DUF719)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      153990148..154038910 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268360.6 → XP_005268417.1  protein FAM114A2 isoform X1

      See identical proteins and their annotated locations for XP_005268417.1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Conserved Domains (1) summary
      pfam05334
      Location:80 → 247
      DUF719; Protein of unknown function (DUF719)

    2. XM_047416658.1 → XP_047272614.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    3. XM_047416657.1 → XP_047272613.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    4. XM_005268361.6 → XP_005268418.1  protein FAM114A2 isoform X1

      See identical proteins and their annotated locations for XP_005268418.1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Conserved Domains (1) summary
      pfam05334
      Location:80 → 247
      DUF719; Protein of unknown function (DUF719)

    5. XM_017008967.3 → XP_016864456.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Conserved Domains (1) summary
      pfam05334
      Location:80 → 247
      DUF719; Protein of unknown function (DUF719)

    6. XM_011537542.4 → XP_011535844.1  protein FAM114A2 isoform X1

      See identical proteins and their annotated locations for XP_011535844.1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Conserved Domains (1) summary
      pfam05334
      Location:80 → 247
      DUF719; Protein of unknown function (DUF719)

    7. XM_047416656.1 → XP_047272612.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    8. XM_047416655.1 → XP_047272611.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    9. XM_011537540.4 → XP_011535842.1  protein FAM114A2 isoform X1

      See identical proteins and their annotated locations for XP_011535842.1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Conserved Domains (1) summary
      pfam05334
      Location:80 → 247
      DUF719; Protein of unknown function (DUF719)

    RNA

    1. XR_007058573.1 RNA Sequence

    2. XR_007058574.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      154523283..154572056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351487.1 → XP_054207462.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    2. XM_054351490.1 → XP_054207465.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    3. XM_054351486.1 → XP_054207461.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    4. XM_054351483.1 → XP_054207458.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    5. XM_054351485.1 → XP_054207460.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    6. XM_054351482.1 → XP_054207457.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    7. XM_054351489.1 → XP_054207464.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    8. XM_054351488.1 → XP_054207463.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    9. XM_054351484.1 → XP_054207459.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4

    RNA

    1. XR_008487074.1 RNA Sequence

    2. XR_008487073.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRY5.4 GenPept UniProtKB/Swiss-Prot:Q9NRY5

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