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

Gene ID: 220965, updated on 10-Oct-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
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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 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)

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

  • 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

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