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    FAM234A family with sequence similarity 234 member A [ Homo sapiens (human) ]

    Gene ID: 83986, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM234Aprovided by HGNC
    Official Full Name
    family with sequence similarity 234 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:14163
    See related
    Ensembl:ENSG00000167930 AllianceGenome:HGNC:14163
    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
    gs19; ITFG3; C16orf9
    Summary
    Located in cell surface. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 28.7), fat (RPKM 21.1) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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    Try the new Transcript table

    Genomic context

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    See FAM234A in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (234821..269963)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (228632..264793)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (284820..319962)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene LUC7 like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:279124-279820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:284237-284780 Neighboring gene C4orf46 pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:307431-308390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:322947-323484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:323485-324021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:325209-325860 Neighboring gene regulator of G protein signaling 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:330732-331489 Neighboring gene Rho GDP dissociation inhibitor gamma Neighboring gene protein disulfide isomerase family A member 2

    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. Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. Ding K, et al. G3 (Bethesda), 2013 Jul 8. PMID 23696099, Free PMC Article
    2. Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins. Wollscheid B, et al. Nat Biotechnol, 2009 Apr. PMID 19349973, Free PMC Article
    3. The relationship between chromosome structure and function at a human telomeric region. Flint J, et al. Nat Genet, 1997 Mar. PMID 9054936
    4. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Chen Z, et al. Hum Mol Genet, 2013 Jun 15. PMID 23446634, Free PMC Article
    5. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Ganesh SK, et al. Nat Genet, 2009 Nov. PMID 19862010, Free PMC Article

    See all (39) 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
    Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.
    EBI GWAS Catalog
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32603, DKFZp761D0211

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cell surface HDA PubMed 
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM234A
    Names
    integrin alpha FG-GAP repeat containing 3
    protein ITFG3

    NCBI Reference Sequences (RefSeq)

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    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_001284497.2 → NP_001271426.1  protein FAM234A

      See identical proteins and their annotated locations for NP_001271426.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC004754, BC013047, CN262982
      Consensus CDS
      CCDS10402.1
      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
      UniProtKB/TrEMBL
      B4DGG1
      Related
      ENSP00000301678.3, ENST00000301678.7

    2. NM_032039.4 → NP_114428.1  protein FAM234A

      See identical proteins and their annotated locations for NP_114428.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC004754, AL136542, BC032112, CN262982
      Consensus CDS
      CCDS10402.1
      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
      UniProtKB/TrEMBL
      B4DGG1
      Related
      ENSP00000382814.3, ENST00000399932.8

    RNA

    1. NR_104317.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC004754, AK294581, CN262982

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      234821..269963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434744.1 → XP_047290700.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    2. XM_047434753.1 → XP_047290709.1  protein FAM234A isoform X3

    3. XM_047434745.1 → XP_047290701.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    4. XM_047434742.1 → XP_047290698.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    5. XM_047434747.1 → XP_047290703.1  protein FAM234A isoform X3

    6. XM_047434749.1 → XP_047290705.1  protein FAM234A isoform X2

    7. XM_047434746.1 → XP_047290702.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    8. XM_047434743.1 → XP_047290699.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    9. XM_011522691.2 → XP_011520993.1  protein FAM234A isoform X1

      See identical proteins and their annotated locations for XP_011520993.1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
      UniProtKB/TrEMBL
      B4DGG1

    10. XM_047434748.1 → XP_047290704.1  protein FAM234A isoform X3

    11. XM_047434750.1 → XP_047290706.1  protein FAM234A isoform X2

    12. XM_017023761.2 → XP_016879250.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
      UniProtKB/TrEMBL
      B4DGG1

    13. XM_047434752.1 → XP_047290708.1  protein FAM234A isoform X3

    14. XM_047434755.1 → XP_047290711.1  protein FAM234A isoform X2

    15. XM_005255622.2 → XP_005255679.1  protein FAM234A isoform X1

      See identical proteins and their annotated locations for XP_005255679.1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
      UniProtKB/TrEMBL
      B4DGG1

    16. XM_047434751.1 → XP_047290707.1  protein FAM234A isoform X3

    17. XM_017023764.2 → XP_016879253.1  protein FAM234A isoform X2

      UniProtKB/TrEMBL
      B4DGG1

    18. XM_006720957.2 → XP_006721020.1  protein FAM234A isoform X3

      UniProtKB/TrEMBL
      B4DGG1

    19. XM_005255623.4 → XP_005255680.1  protein FAM234A isoform X2

      UniProtKB/TrEMBL
      B4DGG1

    20. XM_017023765.3 → XP_016879254.1  protein FAM234A isoform X4

      UniProtKB/TrEMBL
      B4DGG1

    21. XM_017023762.2 → XP_016879251.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
      UniProtKB/TrEMBL
      B4DGG1

    22. XM_011522692.2 → XP_011520994.1  protein FAM234A isoform X1

      See identical proteins and their annotated locations for XP_011520994.1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
      UniProtKB/TrEMBL
      B4DGG1

    23. XM_017023763.3 → XP_016879252.1  protein FAM234A isoform X2

      UniProtKB/TrEMBL
      B4DGG1

    24. XM_047434756.1 → XP_047290712.1  protein FAM234A isoform X2

    25. XM_017023760.3 → XP_016879249.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
      UniProtKB/TrEMBL
      B4DGG1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      228632..264793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314120.1 → XP_054170095.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    2. XM_054314133.1 → XP_054170108.1  protein FAM234A isoform X3

    3. XM_054314121.1 → XP_054170096.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    4. XM_054314113.1 → XP_054170088.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    5. XM_054314126.1 → XP_054170101.1  protein FAM234A isoform X3

    6. XM_054314128.1 → XP_054170103.1  protein FAM234A isoform X2

    7. XM_054314122.1 → XP_054170097.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    8. XM_054314119.1 → XP_054170094.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    9. XM_054314114.1 → XP_054170089.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    10. XM_054314127.1 → XP_054170102.1  protein FAM234A isoform X3

    11. XM_054314129.1 → XP_054170104.1  protein FAM234A isoform X2

    12. XM_054314117.1 → XP_054170092.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    13. XM_054314132.1 → XP_054170107.1  protein FAM234A isoform X3

    14. XM_054314134.1 → XP_054170109.1  protein FAM234A isoform X2

    15. XM_054314118.1 → XP_054170093.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    16. XM_054314131.1 → XP_054170106.1  protein FAM234A isoform X3

    17. XM_054314135.1 → XP_054170110.1  protein FAM234A isoform X2

    18. XM_054314125.1 → XP_054170100.1  protein FAM234A isoform X3

    19. XM_054314124.1 → XP_054170099.1  protein FAM234A isoform X2

    20. XM_054314137.1 → XP_054170112.1  protein FAM234A isoform X4

    21. XM_054314130.1 → XP_054170105.1  protein FAM234A isoform X2

    22. XM_054314116.1 → XP_054170091.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    23. XM_054314123.1 → XP_054170098.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4

    24. XM_054314136.1 → XP_054170111.1  protein FAM234A isoform X2

    25. XM_054314115.1 → XP_054170090.1  protein FAM234A isoform X1

      UniProtKB/Swiss-Prot
      D3DU45, Q7L416, Q96FR1, Q96MC7, Q96S30, Q9H0X4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0X4.1 GenPept UniProtKB/Swiss-Prot:Q9H0X4

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