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Aliases for FAM98C Gene

Aliases for FAM98C Gene

  • Family With Sequence Similarity 98 Member C 2 3 5
  • Family With Sequence Similarity 98, Member C 2

External Ids for FAM98C Gene

Previous GeneCards Identifiers for FAM98C Gene

  • GC19P043586
  • GC19P038893
  • GC19P035341

Summaries for FAM98C Gene

GeneCards Summary for FAM98C Gene

FAM98C (Family With Sequence Similarity 98 Member C) is a Protein Coding gene. Diseases associated with FAM98C include Meckel Syndrome, Type 1. An important paralog of this gene is FAM98A.

Additional gene information for FAM98C Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM98C Gene

Genomics for FAM98C Gene

GeneHancer (GH) Regulatory Elements for FAM98C Gene

Promoters and enhancers for FAM98C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I038402 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.1 92 1.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B FAM98C ZNF571 ZFP30 HNRNPL ZNF781 ZNF793 ZNF607 ZNF573 ZNF540 ZNF570
GH19I038401 Enhancer 0.6 ENCODE 550.8 -1.8 -1779 0.2 OSR2 GATA3 FOXA2 RFX1 ZNF114 IKZF1 NEUROD1 BMI1 FOXA1 FAM98C CATSPERG GC19P038399
GH19I038373 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 -27.7 -27733 3.2 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A PSMD8 HNRNPL ZFP30 ZNF571 ZNF793 ZNF607 RN7SL566P ZNF781 ZNF540 ENSG00000267152
GH19I038361 Promoter/Enhancer 1.5 Ensembl ENCODE 11 -40.8 -40773 1.6 PKNOX1 ATF1 ZNF133 SIN3A ZNF2 ZBTB7B ZNF121 GLIS2 ELK1 KLF7 ENSG00000266963 C19orf33 CATSPERG GGN SPRED3 FAM98C DPF1 PSMD8 GC19M038854
GH19I038543 Enhancer 1.3 Ensembl ENCODE 11.4 +141.5 141454 2.1 FEZF1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC MEF2D ZNF610 ZNF585B GC19P038542 HNRNPL ZFP30 ZNF571 ZNF573 ZNF607 ZNF781 PAF1 ENSG00000267152 SUPT5H
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM98C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM98C gene promoter:

Genomic Locations for FAM98C Gene

Genomic Locations for FAM98C Gene
chr19:38,403,125-38,409,088
(GRCh38/hg38)
Size:
5,964 bases
Orientation:
Plus strand
chr19:38,893,775-38,899,728
(GRCh37/hg19)

Genomic View for FAM98C Gene

Genes around FAM98C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM98C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM98C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM98C Gene

Proteins for FAM98C Gene

  • Protein details for FAM98C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q17RN3-FA98C_HUMAN
    Recommended name:
    Protein FAM98C
    Protein Accession:
    Q17RN3
    Secondary Accessions:
    • A6NMW3
    • Q66K45

    Protein attributes for FAM98C Gene

    Size:
    349 amino acids
    Molecular mass:
    37329 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM98C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM98C Gene

Post-translational modifications for FAM98C Gene

No Post-translational modifications

Other Protein References for FAM98C Gene

No data available for DME Specific Peptides for FAM98C Gene

Domains & Families for FAM98C Gene

Gene Families for FAM98C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM98C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM98C Gene

Graphical View of Domain Structure for InterPro Entry

Q17RN3

UniProtKB/Swiss-Prot:

FA98C_HUMAN :
  • Belongs to the FAM98 family.
Family:
  • Belongs to the FAM98 family.
genes like me logo Genes that share domains with FAM98C: view

Function for FAM98C Gene

Phenotypes From GWAS Catalog for FAM98C Gene

Phenotypes for FAM98C Gene

GenomeRNAi human phenotypes for FAM98C:
genes like me logo Genes that share phenotypes with FAM98C: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM98C Gene

Localization for FAM98C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM98C gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM98C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0072669 tRNA-splicing ligase complex IBA --
genes like me logo Genes that share ontologies with FAM98C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM98C Gene

Pathways & Interactions for FAM98C Gene

SuperPathways for FAM98C Gene

No Data Available

Interacting Proteins for FAM98C Gene

Gene Ontology (GO) - Biological Process for FAM98C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM98C Gene

Drugs & Compounds for FAM98C Gene

No Compound Related Data Available

Transcripts for FAM98C Gene

Unigene Clusters for FAM98C Gene

Family with sequence similarity 98, member C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM98C Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - - - -
SP2: - -
SP3: - -
SP4: - - - -
SP5:
SP6:

Relevant External Links for FAM98C Gene

GeneLoc Exon Structure for
FAM98C
ECgene alternative splicing isoforms for
FAM98C

Expression for FAM98C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM98C Gene

Protein differential expression in normal tissues from HIPED for FAM98C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.5), Breast (9.8), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM98C Gene



Protein tissue co-expression partners for FAM98C Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM98C Gene:

FAM98C

SOURCE GeneReport for Unigene cluster for FAM98C Gene:

Hs.355162

Evidence on tissue expression from TISSUES for FAM98C Gene

  • Nervous system(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with FAM98C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM98C Gene

Orthologs for FAM98C Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM98C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM98C 33 34
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia FAM98C 34 33
  • 85.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM98C 34 33
  • 85.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam98c 16 34 33
  • 78.98 (n)
rat
(Rattus norvegicus)
Mammalia Fam98c 33
  • 78.48 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM98C 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM98C 34
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii FAM98C 34
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5913 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-322 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToMany
Species where no ortholog for FAM98C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FAM98C Gene

ENSEMBL:
Gene Tree for FAM98C (if available)
TreeFam:
Gene Tree for FAM98C (if available)

Paralogs for FAM98C Gene

Paralogs for FAM98C Gene

(2) SIMAP similar genes for FAM98C Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FAM98C: view

Variants for FAM98C Gene

Sequence variations from dbSNP and Humsavar for FAM98C Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs201037487 likely-pathogenic, Short-rib thoracic dysplasia 3 with or without polydactyly 38,407,003(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs1000440222 -- 38,405,758(+) T/C 3_prime_UTR_variant, intron_variant
rs1000955356 -- 38,401,965(+) G/A upstream_transcript_variant
rs1001446188 -- 38,406,934(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1001990772 -- 38,402,903(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM98C Gene

Variant ID Type Subtype PubMed ID
dgv3525n100 CNV gain 25217958
nsv1064275 CNV loss 25217958
nsv470140 CNV gain 18288195
nsv833822 CNV loss 17160897
nsv833823 CNV loss 17160897

Variation tolerance for FAM98C Gene

Residual Variation Intolerance Score: 93.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.10; 80.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM98C Gene

Human Gene Mutation Database (HGMD)
FAM98C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM98C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM98C Gene

Disorders for FAM98C Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM98C Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
meckel syndrome, type 1
  • mks1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM98C

genes like me logo Genes that share disorders with FAM98C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM98C Gene

Publications for FAM98C Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Characterizing the morbid genome of ciliopathies. (PMID: 27894351) Shaheen R … Alkuraya FS (Genome biology 2016) 3 58
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 4 58

Products for FAM98C Gene

Sources for FAM98C Gene

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