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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001317993.2NP_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:80247
      DUF719; Protein of unknown function (DUF719)
    2. NM_001317994.2NP_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:80247
      DUF719; Protein of unknown function (DUF719)
    3. NM_001317995.2NP_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:27177
      DUF719; Protein of unknown function (DUF719)
    4. NM_018691.4NP_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:80247
      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_005268360.6XP_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:80247
      DUF719; Protein of unknown function (DUF719)
    2. XM_047416658.1XP_047272614.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    3. XM_047416657.1XP_047272613.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    4. XM_005268361.6XP_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:80247
      DUF719; Protein of unknown function (DUF719)
    5. XM_017008967.3XP_016864456.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4, B4E1J2
      Conserved Domains (1) summary
      pfam05334
      Location:80247
      DUF719; Protein of unknown function (DUF719)
    6. XM_011537542.4XP_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:80247
      DUF719; Protein of unknown function (DUF719)
    7. XM_047416656.1XP_047272612.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    8. XM_047416655.1XP_047272611.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    9. XM_011537540.4XP_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:80247
      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_054351487.1XP_054207462.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    2. XM_054351490.1XP_054207465.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    3. XM_054351486.1XP_054207461.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    4. XM_054351483.1XP_054207458.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    5. XM_054351485.1XP_054207460.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    6. XM_054351482.1XP_054207457.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    7. XM_054351489.1XP_054207464.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    8. XM_054351488.1XP_054207463.1  protein FAM114A2 isoform X1

      UniProtKB/Swiss-Prot
      B2R8D8, Q9H7E0, Q9NRY5
      UniProtKB/TrEMBL
      A0A140VKG4
    9. XM_054351484.1XP_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