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    FAM124A family with sequence similarity 124 member A [ Homo sapiens (human) ]

    Gene ID: 220108, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM124Aprovided by HGNC
    Official Full Name
    family with sequence similarity 124 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:26413
    See related
    Ensembl:ENSG00000150510 AllianceGenome:HGNC:26413
    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
    Broad expression in brain (RPKM 3.5), spleen (RPKM 3.2) and 19 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    Location:
    13q14.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (51222398..51284239)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (50437377..50499211)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (51796534..51858375)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene chromosome 13 open reading frame 42 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:51742441-51743360 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51743361-51744280 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51744281-51745200 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51747961-51748880 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51748881-51749799 Neighboring gene ribosomal protein L5 pseudogene 31 Neighboring gene uncharacterized LOC107984554 Neighboring gene PRELI domain containing 3B pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51795682-51796472 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51817288-51817877 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51817878-51818466 Neighboring gene Sharpr-MPRA regulatory region 8165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51832547-51833096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51833097-51833644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51837267-51837785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51854893-51855548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51854236-51854892 Neighboring gene Sharpr-MPRA regulatory region 8155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51902755-51903254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7772 Neighboring gene serpin family E member 3 Neighboring gene integrator complex subunit 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:51944817-51945316 Neighboring gene microRNA 5693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5367 Neighboring gene INTS6 antisense RNA 1

    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 genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. Bossini-Castillo L, et al. Ann Rheum Dis, 2015 Mar. PMID 24532677
    2. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    4. An inter-species protein-protein interaction network across vast evolutionary distance. Zhong Q, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107014, Free PMC Article
    5. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
    EBI GWAS Catalog

    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

    • FLJ30707, FLJ32081

    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 FAM124A
    Names
    family with sequence similarity 124A

    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_001242312.2 → NP_001229241.1  protein FAM124A isoform 2

      See identical proteins and their annotated locations for NP_001229241.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding sequence, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      BC051771, BG771560, BM931534, BX109426, DB549067
      Consensus CDS
      CCDS55900.1
      UniProtKB/Swiss-Prot
      A2A324, Q86V42, Q8N8P9, Q8NE66, Q96NJ9
      Related
      ENSP00000324625.8, ENST00000322475.13
      Conserved Domains (1) summary
      pfam15067
      Location:47 → 278
      FAM124; FAM124 family

    2. NM_001330522.2 → NP_001317451.1  protein FAM124A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL157817, BC034497, R44193
      Consensus CDS
      CCDS81767.1
      UniProtKB/Swiss-Prot
      Q86V42
      Related
      ENSP00000481212.1, ENST00000615498.4
      Conserved Domains (1) summary
      pfam15067
      Location:47 → 278
      FAM124; FAM124 family

    3. NM_145019.4 → NP_659456.3  protein FAM124A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK096364, BC051771, BM931534, BX109426, DB549067
      Consensus CDS
      CCDS9427.1
      UniProtKB/Swiss-Prot
      Q86V42
      Related
      ENSP00000280057.6, ENST00000280057.6
      Conserved Domains (1) summary
      pfam15067
      Location:83 → 314
      FAM124; FAM124 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      51222398..51284239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534978.3 → XP_011533280.1  protein FAM124A isoform X1

      Conserved Domains (1) summary
      pfam15067
      Location:83 → 314
      FAM124; FAM124 family

    2. XM_017020419.3 → XP_016875908.1  protein FAM124A isoform X2

    3. XM_047430136.1 → XP_047286092.1  protein FAM124A isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      50437377..50499211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374194.1 → XP_054230169.1  protein FAM124A isoform X1

    2. XM_054374195.1 → XP_054230170.1  protein FAM124A isoform X2

    3. XM_054374196.1 → XP_054230171.1  protein FAM124A isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86V42.1 GenPept UniProtKB/Swiss-Prot:Q86V42

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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