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    FAM13C family with sequence similarity 13 member C [ Homo sapiens (human) ]

    Gene ID: 220965, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM13Cprovided by HGNC
    Official Full Name
    family with sequence similarity 13 member Cprovided by HGNC
    Primary source
    HGNC:HGNC:19371
    See related
    Ensembl:ENSG00000148541 AllianceGenome:HGNC:19371
    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
    FAM13C1
    Expression
    Broad expression in brain (RPKM 29.0), adrenal (RPKM 16.8) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM13C in Genome Data Viewer
    Location:
    10q21.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (59246129..59363181, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (60100433..60217497, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (61005889..61122939, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TNF receptor associated factor 6 pseudogene 1 Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein like Neighboring gene cervical carcinoma expressed PCNA regulatory lncRNA Neighboring gene uncharacterized LOC124902429 Neighboring gene uncharacterized LOC102724778 Neighboring gene uncharacterized LOC124902428 Neighboring gene uncharacterized LOC107984235 Neighboring gene mitochondrial ribosomal protein L50 pseudogene 4

    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. Family with sequence similarity 13C (FAM13C) overexpression is an independent prognostic marker in prostate cancer. Burdelski C, et al. Oncotarget, 2017 May 9. PMID 28415558, Free PMC Article
    2. Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study. Karasik D, et al. J Bone Miner Res, 2010 Jul. PMID 20200953, Free PMC Article
    3. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Wu JH, et al. Circ Cardiovasc Genet, 2013 Apr. PMID 23362303, Free PMC Article
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
    5. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the results of our study demonstrate that expression of FAM13C is an independent prognostic marker in prostate cancer.
      Title: Family with sequence similarity 13C (FAM13C) overexpression is an independent prognostic marker in prostate cancer.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    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

    • MGC33233

    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 FAM13C
    Names
    family with sequence similarity 13, member C1

    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.

    Genomic

    1. NG_053188.2 RefSeqGene

      Range
      5632..122048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001971.3 → NP_001001971.1  protein FAM13C isoform 2

      See identical proteins and their annotated locations for NP_001001971.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC025038, AL355474, KF459662
      Consensus CDS
      CCDS31207.1
      UniProtKB/TrEMBL
      A8K181
      Related
      ENSP00000481830.1, ENST00000611933.4
      Conserved Domains (1) summary
      cl08298
      Location:291 → 355
      NAP; Nucleosome assembly protein (NAP)

    2. NM_001143773.1 → NP_001137245.1  protein FAM13C isoform 3

      See identical proteins and their annotated locations for NP_001137245.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 3, 7, and 8 all encode the same isoform (3).
      Source sequence(s)
      AI453702, AK289796, AK299924, BC064431, BM677909
      Consensus CDS
      CCDS44406.1
      UniProtKB/TrEMBL
      B4DSU7
      Related
      ENSP00000423896.1, ENST00000468840.6

    3. NM_001166698.2 → NP_001160170.1  protein FAM13C isoform 4

      See identical proteins and their annotated locations for NP_001160170.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, uses a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 4, 9, and 10 all encode the same isoform (4).
      Source sequence(s)
      AC025038, AL355474, KF459662
      Consensus CDS
      CCDS53538.1
      UniProtKB/TrEMBL
      B4DSU7
      Related
      ENSP00000480677.1, ENST00000618427.4
      Conserved Domains (1) summary
      COG3351
      Location:303 → 384
      FlaD; Archaellum component FlaD/FlaE [Cell motility]

    4. NM_001347840.2 → NP_001334769.1  protein FAM13C isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 3 and 8, encodes isoform 3.
      Source sequence(s)
      AC025038, AL355474
      Consensus CDS
      CCDS44406.1
      UniProtKB/TrEMBL
      B4DSU7

    5. NM_001347842.2 → NP_001334771.1  protein FAM13C isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 4 and 10, encodes isoform 4.
      Source sequence(s)
      AC025038, AL355474
      Consensus CDS
      CCDS53538.1
      UniProtKB/TrEMBL
      B4DSU7

    6. NM_001347843.1 → NP_001334772.1  protein FAM13C isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC025038, AK316542, AL355474, KF459662
      UniProtKB/Swiss-Prot
      Q8NE31

    7. NM_001347844.1 → NP_001334773.1  protein FAM13C isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 4 and 9, encodes isoform 4.
      Source sequence(s)
      AC025038, AK316542, AL355474, KF459662
      Consensus CDS
      CCDS53538.1
      UniProtKB/TrEMBL
      B4DSU7

    8. NM_001347845.1 → NP_001334774.1  protein FAM13C isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC025038, AK316542, AL355474, KF459662
      UniProtKB/TrEMBL
      B4DSU7

    9. NM_001347846.1 → NP_001334775.1  protein FAM13C isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variant 14, encodes isoform 8.
      Source sequence(s)
      AC025038, AL355474, KF459662
      UniProtKB/TrEMBL
      B4DSU7

    10. NM_001347847.1 → NP_001334776.1  protein FAM13C isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 3 and 7, encodes isoform 3.
      Source sequence(s)
      AC025038, AK316542, AL355474, KF459662
      Consensus CDS
      CCDS44406.1
      UniProtKB/TrEMBL
      B4DSU7

    11. NM_001347848.1 → NP_001334777.1  protein FAM13C isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variant 12, encodes isoform 7.
      Source sequence(s)
      AC025038, AK316542, AL355474, KF459662
      UniProtKB/TrEMBL
      B4DSU7

    12. NM_001347849.2 → NP_001334778.1  protein FAM13C isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC025038, AL355474, KF459662
      UniProtKB/TrEMBL
      A8K181

    13. NM_001347850.2 → NP_001334779.1  protein FAM13C isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variant 11, encodes isoform 7.
      Source sequence(s)
      AC025038, AL355474, KF459662
      UniProtKB/TrEMBL
      B4DSU7

    14. NM_001347851.2 → NP_001334780.1  protein FAM13C isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14), as well as variant 13, encodes isoform 8.
      Source sequence(s)
      AC025038, AL355474, KF459662
      UniProtKB/TrEMBL
      B4DSU7

    15. NM_001347852.2 → NP_001334781.1  protein FAM13C isoform 5

      Status: VALIDATED

      Source sequence(s)
      AK294805, KF459662
      Consensus CDS
      CCDS86096.1
      UniProtKB/TrEMBL
      A8K181, B7Z2K3
      Related
      ENSP00000392302.2, ENST00000435852.6

    16. NM_198215.4 → NP_937858.2  protein FAM13C isoform 1

      See identical proteins and their annotated locations for NP_937858.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC025038, AL355474, KF459662
      Consensus CDS
      CCDS7255.1
      UniProtKB/Swiss-Prot
      B7ZB77, Q5T631, Q6P2M3, Q8NE31, Q99787
      UniProtKB/TrEMBL
      A8K181
      Related
      ENSP00000481854.1, ENST00000618804.5

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      59246129..59363181 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717702.4 → XP_006717765.1  protein FAM13C isoform X2

      See identical proteins and their annotated locations for XP_006717765.1

      UniProtKB/TrEMBL
      B4DSU7

    2. XM_017015891.2 → XP_016871380.1  protein FAM13C isoform X6

      UniProtKB/TrEMBL
      B4DSU7

    3. XM_017015886.2 → XP_016871375.1  protein FAM13C isoform X3

      UniProtKB/TrEMBL
      B4DSU7
      Conserved Domains (1) summary
      COG3351
      Location:303 → 384
      FlaD; Archaellum component FlaD/FlaE [Cell motility]

    4. XM_005269619.5 → XP_005269676.2  protein FAM13C isoform X5

      UniProtKB/TrEMBL
      A8K181
      Conserved Domains (1) summary
      cl08298
      Location:291 → 352
      NAP; Nucleosome assembly protein (NAP)

    5. XM_005269618.5 → XP_005269675.2  protein FAM13C isoform X1

      UniProtKB/TrEMBL
      A8K181
      Related
      ENSP00000484625.1, ENST00000621119.4
      Conserved Domains (1) summary
      COG3351
      Location:386 → 467
      FlaD; Archaellum component FlaD/FlaE [Cell motility]

    6. XM_047424761.1 → XP_047280717.1  protein FAM13C isoform X4

    7. XM_024447880.2 → XP_024303648.1  protein FAM13C isoform X7

    8. XM_024447881.2 → XP_024303649.1  protein FAM13C isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      60100433..60217497 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365086.1 → XP_054221061.1  protein FAM13C isoform X2

    2. XM_054365090.1 → XP_054221065.1  protein FAM13C isoform X6

    3. XM_054365087.1 → XP_054221062.1  protein FAM13C isoform X3

    4. XM_054365089.1 → XP_054221064.1  protein FAM13C isoform X5

    5. XM_054365085.1 → XP_054221060.1  protein FAM13C isoform X1

    6. XM_054365088.1 → XP_054221063.1  protein FAM13C isoform X4

    7. XM_054365091.1 → XP_054221066.1  protein FAM13C isoform X7

    8. XM_054365092.1 → XP_054221067.1  protein FAM13C isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NE31.2 GenPept UniProtKB/Swiss-Prot:Q8NE31

    Gene LinkOut

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