Aliases for TMEM260 Gene

Aliases for TMEM260 Gene

  • Transmembrane Protein 260 2 3 4 5
  • C14orf101 3 4
  • Chromosome 14 Open Reading Frame 101 2
  • UPF0679 Protein C14orf101 3
  • SHDRA 3

External Ids for TMEM260 Gene

Previous HGNC Symbols for TMEM260 Gene

  • C14orf101

Previous GeneCards Identifiers for TMEM260 Gene

  • GC14P056956

Summaries for TMEM260 Gene

GeneCards Summary for TMEM260 Gene

TMEM260 (Transmembrane Protein 260) is a Protein Coding gene. Diseases associated with TMEM260 include Structural Heart Defects And Renal Anomalies Syndrome and Joubert Syndrome 23.

Additional gene information for TMEM260 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM260 Gene

Genomics for TMEM260 Gene

GeneHancer (GH) Regulatory Elements for TMEM260 Gene

Promoters and enhancers for TMEM260 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J056578 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 508.1 +91.8 91818 2.5 FOXK2 ZBTB40 ZNF217 EP300 CTCF TCF12 POLR2G SP1 BCLAF1 PHF8 TMEM260 PELI2 RF00017-1564 RF00994-325
GH14J056488 Enhancer 0.7 Ensembl ENCODE 500.7 -0.3 -283 1.1 CTCF CREB1 FOS ZNF513 FOXP2 HLF SPI1 SP7 CEBPB MYC TMEM260 piR-45012-172
GH14J056487 Enhancer 0.4 ENCODE 500.7 -0.9 -946 0 CTCF SMC3 ZNF654 RAD21 TMEM260 piR-45012-172
GH14J056952 Enhancer 1.2 VISTA UCNEbase Ensembl ENCODE 12.3 +465.2 465155 2.4 CTCF SMC3 ZNF350 TMEM260 ENSG00000258428 RPL3P3 ENSG00000258776 ENSG00000286257 OTX2-AS1
GH14J056760 Enhancer 0.6 FANTOM5 12.1 +272.1 272134 0.4 WT1 ZBTB17 ZNF513 IKZF3 ZNF843 ZNF530 FOXP2 FEZF1 PRDM4 ZNF350 ENSG00000258703 TMEM260 ENSG00000258428 OTX2 piR-35674-140
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM260 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM260

Genomic Locations for TMEM260 Gene

Genomic Locations for TMEM260 Gene
163,531 bases
Plus strand
162,253 bases
Plus strand

Genomic View for TMEM260 Gene

Genes around TMEM260 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM260 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM260 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM260 Gene

Proteins for TMEM260 Gene

  • Protein details for TMEM260 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane protein 260
    Protein Accession:
    Secondary Accessions:
    • A8KAN4
    • B3KPF5
    • Q0VAA1
    • Q86XE1

    Protein attributes for TMEM260 Gene

    707 amino acids
    Molecular mass:
    79536 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA91139.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BC045556; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM260 Gene


neXtProt entry for TMEM260 Gene

Post-translational modifications for TMEM260 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMEM260 Gene

Domains & Families for TMEM260 Gene

Gene Families for TMEM260 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMEM260 Gene


Suggested Antigen Peptide Sequences for TMEM260 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ13823 fis, clone THYRO1000502 (B3KN73_HUMAN)
  • UPF0679 protein C14orf101 (CN101_HUMAN)
  • C14orf101 protein (Q0IJ48_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TMEM260 family.
  • Belongs to the TMEM260 family.
genes like me logo Genes that share domains with TMEM260: view

Function for TMEM260 Gene

Phenotypes From GWAS Catalog for TMEM260 Gene

genes like me logo Genes that share phenotypes with TMEM260: view

Human Phenotype Ontology for TMEM260 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM260 Gene

MGI Knock Outs for TMEM260:

Animal Model Products

CRISPR Products

miRNA for TMEM260 Gene

miRTarBase miRNAs that target TMEM260

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM260

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TMEM260 Gene

Localization for TMEM260 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM260 Gene

Membrane; Multi-pass membrane protein.
[Isoform 1]: Membrane. Note=Shows strong localization in the vicinity of the cell membrane. {ECO:0000269 PubMed:28318500}.
[Isoform 3]: Membrane. Note=Shows perinuclear localization. {ECO:0000269 PubMed:28318500}.

Subcellular locations from

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 TMEM260 gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Focal adhesion sites (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM260 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM260: view

Pathways & Interactions for TMEM260 Gene

PathCards logo

SuperPathways for TMEM260 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM260 Gene


No data available for Pathways by source and SIGNOR curated interactions for TMEM260 Gene

Drugs & Compounds for TMEM260 Gene

No Compound Related Data Available

Transcripts for TMEM260 Gene

mRNA/cDNA for TMEM260 Gene

12 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM260

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM260 Gene

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

Relevant External Links for TMEM260 Gene

GeneLoc Exon Structure for

Expression for TMEM260 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM260 Gene

Protein differential expression in normal tissues from HIPED for TMEM260 Gene

This gene is overexpressed in Cervix (58.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM260 Gene

Protein tissue co-expression partners for TMEM260 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM260

SOURCE GeneReport for Unigene cluster for TMEM260 Gene:


mRNA Expression by UniProt/SwissProt for TMEM260 Gene:

Tissue specificity: Isoform 1 and isoform 3 are expressed in brain, heart, kidney, liver, lung, pancreas and placenta but are not detected in skeletal muscle.

Evidence on tissue expression from TISSUES for TMEM260 Gene

  • Nervous system(4.5)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with TMEM260: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM260 Gene

Orthologs for TMEM260 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM260 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMEM260 30
  • 99.29 (n)
C14H14ORF101 31
  • 99 (a)
(Canis familiaris)
Mammalia TMEM260 31 30
  • 91.04 (n)
(Bos Taurus)
Mammalia TMEM260 31 30
  • 90.49 (n)
(Mus musculus)
Mammalia Tmem260 17 31 30
  • 83.74 (n)
(Rattus norvegicus)
Mammalia Tmem260 30
  • 82.88 (n)
(Monodelphis domestica)
Mammalia TMEM260 31
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia TMEM260 31
  • 75 (a)
(Gallus gallus)
Aves C5H14ORF101 30
  • 72.21 (n)
TMEM260 31
  • 69 (a)
(Anolis carolinensis)
Reptilia TMEM260 31
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem260 30
  • 67.62 (n)
(Danio rerio)
Actinopterygii LOC559650 30
  • 56.66 (n)
tmem260 31
  • 49 (a)
Species where no ortholog for TMEM260 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TMEM260 Gene

Gene Tree for TMEM260 (if available)
Gene Tree for TMEM260 (if available)
Evolutionary constrained regions (ECRs) for TMEM260: view image

Paralogs for TMEM260 Gene

(1) SIMAP similar genes for TMEM260 Gene using alignment to 9 proteins:

  • TM260_HUMAN
  • B3KN73_HUMAN
  • F5H7D0_HUMAN
  • G3V320_HUMAN
  • G3V4A2_HUMAN
  • G3V4Y3_HUMAN
  • H0YK00_HUMAN
genes like me logo Genes that share paralogs with TMEM260: view

No data available for Paralogs for TMEM260 Gene

Variants for TMEM260 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM260 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
641117 Uncertain Significance: not provided 56,579,989(+) C/T SYNONYMOUS_VARIANT
689637 Uncertain Significance: Structural heart defects and renal anomalies syndrome 56,603,847(+) C/T MISSENSE_VARIANT
689638 Likely Pathogenic: Structural heart defects and renal anomalies syndrome 56,647,454(+) TAAGAA/T FRAMESHIFT_VARIANT
718100 Benign: not provided 56,609,258(+) C/T SYNONYMOUS_VARIANT
718530 Benign: not provided 56,585,829(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TMEM260 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM260 Gene

Variant ID Type Subtype PubMed ID
nsv1151097 CNV duplication 26484159

Variation tolerance for TMEM260 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.00; 80.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM260 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM260 Gene

Disorders for TMEM260 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMEM260 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Structural heart defects and renal anomalies syndrome (SHDRA) [MIM:617478]: An autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum. {ECO:0000269 PubMed:28318500}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TMEM260

genes like me logo Genes that share disorders with TMEM260: view

No data available for Genatlas for TMEM260 Gene

Publications for TMEM260 Gene

  1. Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. (PMID: 28318500) Ta-Shma A … Davis EE (American journal of human genetics 2017) 2 3 4 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for TMEM260 Gene

Sources for TMEM260 Gene