This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014] See more...

Aliases for FAM20C Gene

Aliases for FAM20C Gene

  • FAM20C Golgi Associated Secretory Pathway Kinase 2 3 5
  • Dentin Matrix Protein 4 2 3 4
  • Golgi Casein Kinase 2 3 4
  • Extracellular Serine/Threonine Protein Kinase FAM20C 3 4
  • Family With Sequence Similarity 20, Member C 2 3
  • Golgi-Enriched Fraction Casein Kinase 3 4
  • GEF-CK 3 4
  • DMP-4 3 4
  • DMP4 3 4
  • FAM20C, Golgi Associated Secretory Pathway Kinase 2
  • EC 2.7.11.1 4
  • G-CK 3
  • RNS 3

External Ids for FAM20C Gene

Previous GeneCards Identifiers for FAM20C Gene

  • GC07U900326
  • GC07P000276
  • GC07P000289
  • GC07P000290

Summaries for FAM20C Gene

Entrez Gene Summary for FAM20C Gene

  • This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]

GeneCards Summary for FAM20C Gene

FAM20C (FAM20C Golgi Associated Secretory Pathway Kinase) is a Protein Coding gene. Diseases associated with FAM20C include Raine Syndrome and Hypophosphatemia. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein serine/threonine kinase activity. An important paralog of this gene is FAM20A.

UniProtKB/Swiss-Prot Summary for FAM20C Gene

  • Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039).

Gene Wiki entry for FAM20C Gene

Additional gene information for FAM20C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM20C Gene

Genomics for FAM20C Gene

GeneHancer (GH) Regulatory Elements for FAM20C Gene


GeneHancers around FAM20C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM20C

Top Transcription factor binding sites by QIAGEN in the FAM20C gene promoter:
  • aMEF-2
  • AREB6
  • FAC1
  • HOXA3
  • LCR-F1
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Pax-5
  • Sox9

Genomic Locations for FAM20C Gene

Genomic Locations for FAM20C Gene
chr7:192,571-260,774
(GRCh38/hg38)
Size:
68,204 bases
Orientation:
Plus strand
chr7:192,969-300,711
(GRCh37/hg19)
Size:
107,743 bases
Orientation:
Plus strand

Genomic View for FAM20C Gene

Genes around FAM20C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM20C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM20C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM20C Gene

Proteins for FAM20C Gene

  • Protein details for FAM20C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXL6-FA20C_HUMAN
    Recommended name:
    Extracellular serine/threonine protein kinase FAM20C
    Protein Accession:
    Q8IXL6
    Secondary Accessions:
    • A4D2Q5
    • L8B5W8
    • Q5I0W9
    • Q7Z4I0
    • Q9NPT2

    Protein attributes for FAM20C Gene

    Size:
    584 amino acids
    Molecular mass:
    66234 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with FAM20A; probably forming a heterotetramer of 2 subunits of FAM20A and 2 subunits of FAM20C.
    SequenceCaution:
    • Sequence=AAH40074.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAL23705.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAM20C Gene

    Alternative splice isoforms for FAM20C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM20C Gene

Post-translational modifications for FAM20C Gene

  • N-glycosylation is required for folding.
  • Autophosphorylated.
  • Glycosylation at Asn335, Ser41, Ser47, Ser74, Ser75, Thr87, Asn101, Asn470, Ser148, and Ser150
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FA20C_HUMAN (1230)

Other Protein References for FAM20C Gene

No data available for DME Specific Peptides for FAM20C Gene

Domains & Families for FAM20C Gene

Gene Families for FAM20C Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for FAM20C Gene

Blocks:
  • Protein of unknown function DUF1193
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM20C Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM20C (DMP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IXL6

UniProtKB/Swiss-Prot:

FA20C_HUMAN :
  • Belongs to the FAM20 family.
Family:
  • Belongs to the FAM20 family.
genes like me logo Genes that share domains with FAM20C: view

Function for FAM20C Gene

Molecular function for FAM20C Gene

UniProtKB/Swiss-Prot Function:
Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269 PubMed:22582013, ECO:0000269 PubMed:23754375, ECO:0000269 PubMed:25789606};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269 PubMed:22582013, ECO:0000269 PubMed:23754375, ECO:0000269 PubMed:25789606};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Serine/threonine protein kinase activity is increased upon interaction with FAM20A.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.8 uM for manganese/ATP {ECO:0000269 PubMed:23754375};

Enzyme Numbers (IUBMB) for FAM20C Gene

Phenotypes From GWAS Catalog for FAM20C Gene

Gene Ontology (GO) - Molecular Function for FAM20C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 22582013
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with FAM20C: view
genes like me logo Genes that share phenotypes with FAM20C: view

Human Phenotype Ontology for FAM20C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAM20C Gene

MGI Knock Outs for FAM20C:

Animal Model Products

  • Taconic Biosciences Mouse Models for FAM20C

miRNA for FAM20C Gene

miRTarBase miRNAs that target FAM20C

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for FAM20C Gene

Localization for FAM20C Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM20C Gene

Secreted. Golgi apparatus.

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 FAM20C gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 4
nucleus 3
mitochondrion 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM20C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA,IEA 22582013
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IDA,IBA 22582013
genes like me logo Genes that share ontologies with FAM20C: view

Pathways & Interactions for FAM20C Gene

PathCards logo

SuperPathways for FAM20C Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM20C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0006468 protein phosphorylation IDA,IEA 23754375
GO:0016310 phosphorylation IEA --
GO:0030501 positive regulation of bone mineralization IEA --
GO:0031214 biomineral tissue development IMP 22582013
genes like me logo Genes that share ontologies with FAM20C: view

No data available for Pathways by source and SIGNOR curated interactions for FAM20C Gene

Drugs & Compounds for FAM20C Gene

(1) Drugs for FAM20C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with FAM20C: view

Transcripts for FAM20C Gene

mRNA/cDNA for FAM20C Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM20C Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5
SP1: - -
SP2: -
SP3: - - - -
SP4:

Relevant External Links for FAM20C Gene

GeneLoc Exon Structure for
FAM20C

Expression for FAM20C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM20C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM20C Gene

This gene is overexpressed in Serum (48.0) and Plasma (18.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM20C Gene



Protein tissue co-expression partners for FAM20C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM20C

SOURCE GeneReport for Unigene cluster for FAM20C Gene:

Hs.134742

mRNA Expression by UniProt/SwissProt for FAM20C Gene:

Q8IXL6-FA20C_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for FAM20C Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM20C Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • liver
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FAM20C: view

No data available for mRNA differential expression in normal tissues for FAM20C Gene

Orthologs for FAM20C Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM20C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC740357 30
  • 98.81 (n)
FAM20C 31
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FAM20C 31 30
  • 87.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM20C 31 30
  • 86.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam20c 17 31 30
  • 83.71 (n)
rat
(Rattus norvegicus)
Mammalia Fam20c 30
  • 83.42 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM20C 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM20C 31 30
  • 74.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM20C 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498448 30
  • 69.53 (n)
zebrafish
(Danio rerio)
Actinopterygii FAM20C (1 of 2) 31
  • 72 (a)
OneToMany
fam20cb 31 30
  • 69.67 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31145 31
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H03A11.1 31
  • 35 (a)
OneToMany
Species where no ortholog for FAM20C 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for FAM20C Gene

ENSEMBL:
Gene Tree for FAM20C (if available)
TreeFam:
Gene Tree for FAM20C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM20C: view image

Paralogs for FAM20C Gene

Paralogs for FAM20C Gene

(3) SIMAP similar genes for FAM20C Gene using alignment to 1 proteins:

  • DMP4_HUMAN
genes like me logo Genes that share paralogs with FAM20C: view

Variants for FAM20C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM20C Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
709117 Likely Benign: not provided 193,205(+) G/A SYNONYMOUS_VARIANT
711706 Likely Benign: not provided 195,656(+) C/T SYNONYMOUS_VARIANT
715002 Likely Benign: not provided 258,688(+) G/A SYNONYMOUS_VARIANT
717475 Benign: not provided 248,384(+) C/T SYNONYMOUS_VARIANT
720953 Likely Benign: not provided 195,679(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FAM20C Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM20C Gene

Variant ID Type Subtype PubMed ID
dgv1083n67 CNV gain 20364138
dgv11094n54 CNV gain 21841781
dgv11095n54 CNV gain 21841781
dgv11096n54 CNV loss 21841781
dgv11097n54 CNV gain 21841781
dgv11098n54 CNV loss 21841781
dgv11099n54 CNV gain 21841781
dgv11100n54 CNV loss 21841781
dgv11101n54 CNV loss 21841781
dgv11102n54 CNV loss 21841781
dgv11103n54 CNV loss 21841781
dgv11104n54 CNV gain 21841781
dgv11105n54 CNV loss 21841781
dgv11106n54 CNV loss 21841781
dgv11107n54 CNV loss 21841781
dgv3458n106 CNV deletion 24896259
dgv3459n106 CNV deletion 24896259
dgv6213n100 CNV gain 25217958
dgv6220n100 CNV gain 25217958
esv1006722 CNV loss 20482838
esv1021366 CNV deletion 17803354
esv1274787 CNV deletion 17803354
esv1381494 CNV insertion 17803354
esv1554494 CNV deletion 17803354
esv1593047 CNV deletion 17803354
esv1607109 CNV deletion 17803354
esv1628554 CNV insertion 17803354
esv1714082 CNV deletion 17803354
esv2248874 CNV deletion 18987734
esv23573 CNV gain 19812545
esv23578 CNV gain+loss 19812545
esv24124 CNV loss 19812545
esv24248 CNV loss 19812545
esv2436771 CNV deletion 19546169
esv25065 CNV gain+loss 19812545
esv2541261 CNV deletion 19546169
esv2656552 CNV deletion 23128226
esv2659263 CNV deletion 23128226
esv2668014 CNV deletion 23128226
esv2676774 CNV deletion 23128226
esv27148 CNV loss 19812545
esv2759498 CNV gain+loss 17122850
esv3540977 CNV deletion 23714750
esv3540979 CNV deletion 23714750
esv3611747 CNV gain 21293372
esv3611754 CNV gain 21293372
esv3611760 CNV loss 21293372
esv3611761 CNV gain 21293372
esv3611762 CNV loss 21293372
esv3611763 CNV gain 21293372
esv3611764 CNV gain 21293372
esv3611765 CNV loss 21293372
esv3611766 CNV gain 21293372
esv3891006 CNV gain 25118596
esv988948 CNV deletion 20482838
nsv1017321 CNV gain 25217958
nsv1023966 CNV loss 25217958
nsv1026359 CNV gain 25217958
nsv1074045 CNV deletion 25765185
nsv1074457 CNV deletion 25765185
nsv1074458 CNV deletion 25765185
nsv1074459 CNV deletion 25765185
nsv1074986 CNV deletion 25765185
nsv1074987 CNV deletion 25765185
nsv1110806 CNV insertion 24896259
nsv1120539 CNV tandem duplication 24896259
nsv1126087 CNV deletion 24896259
nsv1126088 CNV deletion 24896259
nsv1132030 CNV deletion 24896259
nsv1132955 CNV insertion 24896259
nsv1133394 CNV tandem duplication 24896259
nsv1142479 CNV tandem duplication 24896259
nsv1143335 CNV deletion 24896259
nsv1143336 CNV deletion 24896259
nsv1144155 CNV deletion 24896259
nsv1152897 CNV deletion 26484159
nsv428159 CNV gain 18775914
nsv464242 CNV gain 19166990
nsv464243 CNV loss 19166990
nsv471171 CNV gain 18288195
nsv523285 CNV loss 19592680
nsv605597 CNV gain 21841781
nsv605598 CNV loss 21841781
nsv605618 CNV gain+loss 21841781
nsv605630 CNV loss 21841781
nsv605631 CNV gain 21841781
nsv605634 CNV gain 21841781
nsv605643 CNV loss 21841781
nsv605666 CNV loss 21841781
nsv605673 CNV loss 21841781
nsv605675 CNV loss 21841781
nsv605677 CNV loss 21841781
nsv605686 CNV loss 21841781
nsv605687 CNV loss 21841781
nsv823947 CNV gain 20364138
nsv823952 CNV loss 20364138
nsv823953 CNV loss 20364138
nsv830875 CNV gain 17160897
nsv957054 CNV deletion 24416366

Variation tolerance for FAM20C Gene

Gene Damage Index Score: 4.11; 61.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM20C Gene

Human Gene Mutation Database (HGMD)
FAM20C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM20C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM20C Gene

Disorders for FAM20C Gene

MalaCards: The human disease database

(18) MalaCards diseases for FAM20C Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FA20C_HUMAN
  • Raine syndrome (RNS) [MIM:259775]: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly. {ECO:0000269 PubMed:17924334, ECO:0000269 PubMed:22582013, ECO:0000269 PubMed:25789606}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FAM20C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM20C: view

No data available for Genatlas for FAM20C Gene

Publications for FAM20C Gene

  1. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (PMID: 17924334) Simpson MA … Crosby AH (American journal of human genetics 2007) 2 3 4 54
  2. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. (PMID: 15676076) Nalbant D … Williams SC (BMC genomics 2005) 3 4 23 54
  3. Family with sequence similarity member 20C is the primary but not the only kinase for the small-integrin-binding ligand N-linked glycoproteins in bone. (PMID: 26324849) Yang X … Wang X (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2016) 2 3 54
  4. A Single Kinase Generates the Majority of the Secreted Phosphoproteome. (PMID: 26091039) Tagliabracci VS … Dixon JE (Cell 2015) 3 4 54
  5. A secretory kinase complex regulates extracellular protein phosphorylation. (PMID: 25789606) Cui J … Dixon JE (eLife 2015) 3 4 54

Products for FAM20C Gene

Sources for FAM20C Gene