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Aliases for FAM129C Gene

Aliases for FAM129C Gene

  • Family With Sequence Similarity 129 Member C 2 3 5
  • B-Cell Novel Protein 1 3 4
  • BCNP1 3 4
  • Family With Sequence Similarity 129, Member C 2
  • B Cell Novel Protein 1 2
  • Niban-Like Protein 2 3
  • Protein FAM129C 4

External Ids for FAM129C Gene

Previous GeneCards Identifiers for FAM129C Gene

  • GC19P017496
  • GC19P017634
  • GC19P017202
  • GC19P017557
  • GC19P017704
  • GC19P017727
  • GC19P018310
  • GC19P018694
  • GC19P019004
  • GC19P019324

Summaries for FAM129C Gene

GeneCards Summary for FAM129C Gene

FAM129C (Family With Sequence Similarity 129 Member C) is a Protein Coding gene. An important paralog of this gene is FAM129A.

Additional gene information for FAM129C 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 FAM129C Gene

Genomics for FAM129C Gene

GeneHancer (GH) Regulatory Elements for FAM129C Gene

Promoters and enhancers for FAM129C 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
GH19I017522 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +0.1 50 2 HDGF PKNOX1 RB1 ZNF76 BMI1 KLF5 IRF4 ZNF143 ATF7 ZNF548 FAM129C CHERP COLGALT1 ENSG00000269578 PGLS ENSG00000268743 GC19M017549
GH19I017552 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 12.7 +31.6 31557 4.4 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 COLGALT1 ENSG00000269578 ENSG00000267904 ENSG00000268087 MVB12A ENSG00000268938 ENSG00000268743 GTPBP3 IQCN ENSG00000269191
GH19I017778 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.8 +255.7 255713 1.6 HDGF PKNOX1 SIN3A ZBTB7B TCF12 POLR2B GLIS2 GATA2 E2F8 KLF7 FCHO1 ENSG00000268030 COLGALT1 ENSG00000268743 FAM129C JAK3 MAST3 GC19M017755 B3GNT3
GH19I017845 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 4.1 +325.6 325574 6.2 HDGF PKNOX1 ARID4B DMAP1 SLC30A9 GTF3C2 ZNF207 ZNF143 RUNX3 ZHX2 JAK3 FCHO1 B3GNT3 INSL3 UNC13A RPL18A MAST3 FAM129C IL12RB1 ARRDC2
GH19I017087 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.8 -432.9 -432914 4.8 CTCF ZNF146 MAX ZIC2 KLF5 ZNF316 POLR2A ZNF239 NFE2 ZNF600 MYO9B HAUS8 FAM129C MED26 ENSG00000269066 GC19M017078
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM129C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM129C gene promoter:

Genomic Locations for FAM129C Gene

Genomic Locations for FAM129C Gene
chr19:17,523,301-17,555,545
(GRCh38/hg38)
Size:
32,245 bases
Orientation:
Plus strand
chr19:17,634,110-17,664,648
(GRCh37/hg19)

Genomic View for FAM129C Gene

Genes around FAM129C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM129C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM129C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM129C Gene

Proteins for FAM129C Gene

  • Protein details for FAM129C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XR2-NIBL2_HUMAN
    Recommended name:
    Niban-like protein 2
    Protein Accession:
    Q86XR2
    Secondary Accessions:
    • B4DNU3
    • B4DVN7
    • Q7Z6H6
    • Q86XR3
    • Q86XR4
    • Q8TEQ3

    Protein attributes for FAM129C Gene

    Size:
    697 amino acids
    Molecular mass:
    77413 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG62749.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM129C Gene

neXtProt entry for FAM129C Gene

Post-translational modifications for FAM129C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM129C Gene

Domains & Families for FAM129C Gene

Gene Families for FAM129C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM129C Gene

Suggested Antigen Peptide Sequences for FAM129C Gene

Graphical View of Domain Structure for InterPro Entry

Q86XR2

UniProtKB/Swiss-Prot:

NIBL2_HUMAN :
  • Belongs to the Niban family.
Family:
  • Belongs to the Niban family.
genes like me logo Genes that share domains with FAM129C: view

Function for FAM129C Gene

Phenotypes From GWAS Catalog for FAM129C Gene

genes like me logo Genes that share phenotypes with FAM129C: view

Animal Model Products

CRISPR Products

miRNA for FAM129C Gene

miRTarBase miRNAs that target FAM129C

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM129C Gene

Localization for FAM129C 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 FAM129C gene
Compartment Confidence
nucleus 2
mitochondrion 1
peroxisome 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAM129C Gene

Pathways & Interactions for FAM129C Gene

SuperPathways for FAM129C Gene

No Data Available

Interacting Proteins for FAM129C Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000335040%0d%0a9606.ENSP00000257177%0d%0a9606.ENSP00000323889%0d%0a9606.ENSP00000254231%0d%0a
Selected Interacting proteins: ENSP00000335040 for FAM129C Gene via STRING

Gene Ontology (GO) - Biological Process for FAM129C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM129C Gene

Drugs & Compounds for FAM129C Gene

No Compound Related Data Available

Transcripts for FAM129C Gene

Unigene Clusters for FAM129C Gene

Family with sequence similarity 129, member C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM129C Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - -
SP5: - -
SP6:
SP7:

Relevant External Links for FAM129C Gene

GeneLoc Exon Structure for
FAM129C
ECgene alternative splicing isoforms for
FAM129C

Expression for FAM129C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM129C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM129C Gene

This gene is overexpressed in Spleen (x22.1), Whole Blood (x9.4), and Small Intestine - Terminal Ileum (x9.3).

Protein differential expression in normal tissues from HIPED for FAM129C Gene

This gene is overexpressed in Blymphocyte (20.7), Lymph node (13.0), Breast (12.5), and Monocytes (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM129C Gene



Protein tissue co-expression partners for FAM129C Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM129C Gene:

FAM129C

SOURCE GeneReport for Unigene cluster for FAM129C Gene:

Hs.434133

mRNA Expression by UniProt/SwissProt for FAM129C Gene:

Q86XR2-NIBL2_HUMAN
Tissue specificity: Specifically expressed in B-lymphocytes.
genes like me logo Genes that share expression patterns with FAM129C: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM129C Gene

Orthologs for FAM129C Gene

This gene was present in the common ancestor of mammals.

Orthologs for FAM129C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM129C 33
  • 98.19 (n)
cow
(Bos Taurus)
Mammalia FAM129C 33 34
  • 83.19 (n)
dog
(Canis familiaris)
Mammalia FAM129C 33 34
  • 82.75 (n)
rat
(Rattus norvegicus)
Mammalia Fam129c 33
  • 73.67 (n)
mouse
(Mus musculus)
Mammalia Fam129c 33 16 34
  • 73.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM129C 34
  • 41 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM129C 34
  • 35 (a)
OneToOne
Species where no ortholog for FAM129C 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FAM129C Gene

ENSEMBL:
Gene Tree for FAM129C (if available)
TreeFam:
Gene Tree for FAM129C (if available)

Paralogs for FAM129C Gene

Variants for FAM129C Gene

Sequence variations from dbSNP and Humsavar for FAM129C Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000019230 -- 17,538,373(+) G/A intron_variant
rs1000024503 -- 17,548,219(+) G/A intron_variant
rs1000093083 -- 17,549,681(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs1000126535 -- 17,542,476(+) G/A intron_variant
rs1000152465 -- 17,554,237(+) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM129C Gene

Variant ID Type Subtype PubMed ID
esv2422429 CNV duplication 17116639
esv2657201 CNV deletion 23128226
esv2661765 CNV deletion 23128226
esv2674708 CNV deletion 23128226
esv3643822 CNV loss 21293372
esv3643823 CNV loss 21293372
esv3643824 CNV loss 21293372
nsv833768 CNV loss 17160897

Variation tolerance for FAM129C Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.05; 90.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM129C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM129C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM129C Gene

Disorders for FAM129C Gene

Additional Disease Information for FAM129C

No disorders were found for FAM129C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM129C Gene

Publications for FAM129C Gene

  1. Proteomic analysis of the cell-surface membrane in chronic lymphocytic leukemia: identification of two novel proteins, BCNP1 and MIG2B. (PMID: 12886250) Boyd RS … Dyer MJ (Leukemia 2003) 2 3 4 58
  2. The possible roles of B-cell novel protein-1 (BCNP1) in cellular signalling pathways and in cancer. (PMID: 27680505) Patel SJ … Clarkson BD (Journal of cellular and molecular medicine 2017) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 4 58
  5. 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) 4 58

Products for FAM129C Gene

Sources for FAM129C Gene

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