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Aliases for FAM230A Gene
Subcategory (RNA class) for FAM230A Gene
lncRNA
Aliases for FAM230A Gene
External Ids for FAM230A Gene
- HGNC: 45045
- Entrez Gene: 653203
- Ensembl: ENSG00000277870
- UniProtKB: K4HVA1
Previous GeneCards Identifiers for FAM230A Gene
- GC22P020694
- GC22P018486
Summaries for FAM230A Gene
GeneCards Summary for FAM230A Gene
FAM230A (Family With Sequence Similarity 230 Member A) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with FAM230A include Retinitis Pigmentosa 43 and Hyperprolinemia, Type I. An important paralog of this gene is LOC101927859.
Additional gene information for FAM230A Gene
- HGNC(45045)
- Entrez Gene(653203)
- Ensembl(ENSG00000277870)
- UniProtKB(K4HVA1)
- Open Targets Platform(ENSG00000277870)
- Search for FAM230A at DataMed
- Search for FAM230A at HumanCyc
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 FAM230A Gene
Genomics for FAM230A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FAM230A 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH22J018421 | Promoter | 0.3 | Ensembl | 600.7 | +0.5 | 516 | 1.4 | FAM230A ENSG00000277017 FAM247B USP18 | ||
| GH22J018430 | Enhancer | 0.2 | Ensembl | 0.4 | +9.5 | 9473 | 0.7 | FAM230A ENSG00000277017 FAM247B USP18 | ||
| GH22J018483 | Enhancer | 0.2 | Ensembl | 0.2 | +63.1 | 63116 | 0.6 | ENSG00000277017 FAM247B FAM230A USP18 | ||
| GH22J018495 | Enhancer | 0.2 | Ensembl | 0.2 | +74.4 | 74417 | 0.4 | piR-39858-424 FAM247B FAM230A USP18 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FAM230A on the GeneHancer Hub at the UCSC Golden Path
Genomic Locations for FAM230A Gene
Genomic Locations for FAM230A Gene
- chr22:18,421,384-18,500,594
- (GRCh38/hg38)
- Size:
- 79,211 bases
- Orientation:
- Plus strand
- chr22:20,692,438-20,716,938
- (GRCh37/hg19)
- Size:
- 24,501 bases
- Orientation:
- Plus strand
Genomic View for FAM230A Gene
Genes around FAM230A on UCSC Golden Path with GeneCards custom track
FAM230A in the GeneCards ncRNA compendium hub on the UCSC Golden Path
- Cytogenetic band:
-
- 22q11.21 by HGNC
- 22q11.21 by Entrez Gene
- 22q11.21 by Ensembl
FAM230A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FAM230A Gene
Proteins for FAM230A Gene
-
Protein details for FAM230A Gene (UniProtKB/TrEMBL)
- Protein Symbol:
- K4HVA1-K4HVA1_HUMAN
- Recommended name:
- FAM230A
- Protein Accession:
- K4HVA1
Protein attributes for FAM230A Gene
- Size:
- 316 amino acids
- Molecular mass:
- 33909 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for FAM230A Gene
No Post-translational modifications
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FAM230A
- Origene Custom Protein Services for FAM230A
No data available for DME Specific Peptides for FAM230A Gene
Domains & Families for FAM230A Gene
Gene Families for FAM230A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for FAM230A Gene
- ProtoNet:
No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FAM230A Gene
Function for FAM230A Gene
Phenotypes for FAM230A Gene
- GenomeRNAi human phenotypes for FAM230A:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM230A Gene
Localization for FAM230A Gene
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAM230A Gene
Transcripts for FAM230A Gene
Non-coding RNA (ncRNA) Transcripts from RNAcentral for FAM230A Gene
| RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
|---|---|---|---|---|
| URS0000DBA62F_9606 | lncRNA | 3186 | 2 |
RefSeq: NR_136560, Ensembl: ENST00000624459 (view in UCSC) , |
| URS0001980E33_9606 | lncRNA | 3202 | 1 |
RefSeq: NR_165629, |
| URS0000A7765D_9606 | lncRNA | 2923 | 1 |
HGNC: 45045, |
| URS0000DBA31E_9606 | lncRNA | 714 | 1 |
Ensembl: ENST00000624001 (view in UCSC) , |
| URS0000DB6CA1_9606 | lncRNA | 315 | 1 |
Ensembl: ENST00000615181 (view in UCSC) , |
FAM230A in the GeneCards ncRNA compendium hub on the UCSC Golden Path
CRISPR Products
- Browse CRISPR knockouts for FAM230A
miRNA Products
Inhibitory RNA Products
Relevant External Links for FAM230A Gene
- GeneLoc Exon Structure for
- FAM230A
No data available for mRNA/cDNA for FAM230A Gene
Expression for FAM230A Gene
mRNA differential expression in normal tissues according to GTEx for FAM230A Gene
This gene is overexpressed in Testis (x52.0).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM230A
Primer Products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM230A Gene
Orthologs for FAM230A Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101732313 30 |
|
- Species where no ortholog for FAM230A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Chimpanzee (Pan troglodytes)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Cow (Bos Taurus)
- Dog (Canis familiaris)
- 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)
- Mouse (Mus musculus)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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)
- Zebrafish (Danio rerio)
Paralogs for FAM230A Gene
Paralogs for FAM230A Gene
- LOC100996335 30
- LOC101927859 30
- LOC100996415 30
- LOC101060157 30
- LOC642643 30
- AC011718.2 30
Variants for FAM230A Gene
Gene Damage Index Score:
38.14;
99.98% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FAM230A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FAM230A
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for FAM230A Gene
Disorders for FAM230A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinitis pigmentosa 43 |
|
|
| hyperprolinemia, type i |
|
|
| digeorge syndrome |
|
|
Search FAM230A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FAM230A
No data available for UniProtKB/Swiss-Prot and Genatlas for FAM230A Gene
Publications for FAM230A Gene
- A family of long intergenic non-coding RNA genes in human chromosomal region 22q11.2 carry a DNA translocation breakpoint/AT-rich sequence. (PMID: 29668722) Delihas N (PloS one 2018) 2 3
- Formation of a Family of Long Intergenic Noncoding RNA Genes with an Embedded Translocation Breakpoint Motif in Human Chromosomal Low Copy Repeats of 22q11.2-Some Surprises and Questions. (PMID: 30036931) Delihas N (Non-coding RNA 2018) 3
ExternalLinks
Products for FAM230A Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FAM230A
- Origene Custom Protein Services for FAM230A
- Browse OriGene Inhibitory RNA Products For FAM230A
- Browse OriGene qPCR primer pairs and template standards
- Browse CRISPR knockouts for FAM230A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For FAM230A
- Sino Biological Human cDNA Clone for FAM230A
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for FAM230A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for FAM230A
- Search GeneCopoeia for miRNA 3'UTR Target clone products for FAM230A
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for FAM230A
Sources for FAM230A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB