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Aliases for FAM13A Gene
Aliases for FAM13A Gene
External Ids for FAM13A Gene
- HGNC: 19367
- NCBI Entrez Gene: 10144
- Ensembl: ENSG00000138640
- OMIM®: 613299
- UniProtKB/Swiss-Prot: O94988
Previous HGNC Symbols for FAM13A Gene
- FAM13A1
Previous GeneCards Identifiers for FAM13A Gene
- GC04M089866
- GC04M089647
- GC04M085399
Summaries for FAM13A Gene
GeneCards Summary for FAM13A Gene
FAM13A (Family With Sequence Similarity 13 Member A) is a Protein Coding gene. Diseases associated with FAM13A include Pulmonary Fibrosis, Idiopathic and Bronchitis. Among its related pathways are Signaling by GPCR and Lung fibrosis. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is FAM13B.
Additional gene information for FAM13A Gene
- HGNC (19367)
- NCBI Entrez Gene (10144)
- Ensembl (ENSG00000138640)
- OMIM® (613299)
- UniProtKB/Swiss-Prot (O94988)
- Open Targets Platform(ENSG00000138640)
- Monarch Initiative
- Search for FAM13A at DataMed
- Search for FAM13A at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM13A Gene
Genomics for FAM13A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FAM13A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FAM13A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM13A
- Top Transcription factor binding sites by QIAGEN in the FAM13A gene promoter:
-
- HNF-3beta
- Meis-1
- Meis-1a
- Meis-1b
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
- RORalpha1
Genomic Locations for FAM13A Gene
Latest Assembly
- chr4:88,725,955-89,111,398
- (GRCh38/hg38)
- Size:
- 385,444 bases
- Orientation:
- Minus strand
Previous Assembly
- chr4:89,647,111-89,978,336
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 331,226 bases
- Orientation:
- Minus strand
- chr4:89,647,106-90,032,549
- (GRCh37/hg19 by Ensembl)
- Size:
- 385,444 bases
- Orientation:
- Minus strand
Genomic View for FAM13A Gene
Genes around FAM13A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q22.1 by HGNC
- 4q22.1 by Entrez Gene
- 4q22.1 by Ensembl
FAM13A 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 FAM13A Gene
Proteins for FAM13A Gene
-
Protein details for FAM13A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O94988-FA13A_HUMAN
- Recommended name:
- Protein FAM13A
- Protein Accession:
- O94988
- B4DLC1
- Q24JP0
- Q5PR21
- Q8NBA3
Protein attributes for FAM13A Gene
- Size:
- 1023 amino acids
- Molecular mass:
- 116932 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA74937.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC03636.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
Protein Expression for FAM13A Gene
Post-translational modifications for FAM13A Gene
Other Protein References for FAM13A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005262738.1
- XP_005262739.1
- XP_005262740.1
- XP_005262741.1
- XP_006714120.1
- XP_011529818.1
- XP_011529819.1
- XP_011529820.1
- XP_011529821.1
- XP_016863113.1
- XP_016863114.1
- XP_016863115.1
- XP_016863116.1
- XP_016863117.1
- XP_016863118.1
- XP_016863119.1
- XP_016863120.1
- XP_016863121.1
- XP_016863122.1
- XP_016863123.1
- XP_024309638.1
- NP_001015045.1
- NP_001252507.1
- NP_001252508.1
- NP_001252509.1
- NP_055698.2
Antibodies for research
- LifeSpan BioSciences FAM13A1 / KIAA0914 Antibody
-
Custom Antibody ServicesOriGene Antibodies for FAM13A
- Novus Biologicals Antibodies for FAM13A
- Invitrogen Antibodies for FAM13A (AFLGC-FAM13A)
- antibodies-online: Show 11 available FAM13A Antibodies ranked by validation data
-
Boster Bio Antibodies for FAM13A
-
Custom Antibody ServicesProSci Antibodies for FAM13A
Protein products for research
-
OriGene Purified Proteins for FAM13A
- Search Origene for MassSpec and Protein Over-expression Lysates for FAM13A
- Origene Custom Protein Services for FAM13A
Assay products for research
No data available for DME Specific Peptides for FAM13A Gene
Domains & Families for FAM13A Gene
Gene Families for FAM13A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for FAM13A Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FAM13A Gene
- GenScript: Design optimal peptide antigens:
-
- Protein FAM13A (FA13A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O94988- Family:
-
- Belongs to the FAM13 family.
Function for FAM13A Gene
Phenotypes From GWAS Catalog for FAM13A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IEA | -- |
Phenotypes for FAM13A Gene
- GenomeRNAi human phenotypes for FAM13A:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FAM13A - Starting at $85 >
- * FAM13A CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FAM13A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FAM13A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM13A
miRNA for FAM13A Gene
- miRTarBase miRNAs that target FAM13A
-
- mmu-miR-223-3p (MIRT009797)
- hsa-miR-615-3p (MIRT039722)
- hsa-miR-10b-5p (MIRT047429)
- hsa-miR-4291 (MIRT709376)
- hsa-miR-4777-3p (MIRT709377)
- hsa-miR-558 (MIRT709378)
- hsa-miR-545-3p (MIRT709379)
- hsa-miR-3908 (MIRT709380)
- hsa-miR-4446-5p (MIRT713208)
- hsa-miR-3679-3p (MIRT713209)
- hsa-miR-302c-5p (MIRT713210)
- hsa-miR-2355-5p (MIRT713211)
- hsa-miR-3143 (MIRT713212)
- hsa-miR-4262 (MIRT713213)
- hsa-miR-181d-5p (MIRT713214)
- hsa-miR-181c-5p (MIRT713215)
- hsa-miR-181b-5p (MIRT713216)
- hsa-miR-181a-5p (MIRT713217)
- hsa-miR-543 (MIRT713218)
- hsa-miR-5047 (MIRT716929)
- hsa-miR-6721-5p (MIRT716930)
- hsa-miR-1301-3p (MIRT716931)
- hsa-miR-2115-5p (MIRT716932)
- hsa-miR-4660 (MIRT716933)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAM13A
- Browse OriGene Inhibitory RNA Products For FAM13A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM13A
Clone products for research
- Applied Biological Materials (abm): Clones for FAM13A - Starting at $45 >
- * FAM13A as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG210083
- MR210083
- MR210083L3
- MR210083L4
- RC214803
- RC214803L1
- RC214803L2
- RC214803L3
- RC214803L4
- RC216561
- RC216561L1
- RC216561L2
- RC216561L3
- RC216561L4
- RC234682
- RC234683
- RC234713
- RG214803
- RG216561
- RG234682
- RG234683
- RG234713
- RR217112
- MR210083L3V
- MR210083L4V
- RC214803L1V
- RC214803L2V
- RC214803L3V
- RC214803L4V
- RC216561L1V
- RC216561L2V
- RC216561L3V
- RC216561L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FAM13A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAM13A
Cell Lines for research
-
Horizon Cell Lines for FAM13A
No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM13A Gene
Localization for FAM13A Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| extracellular | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Cell Junctions (2)
- Cytosol (2)
- Nucleoli (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM13A Gene
Pathways & Interactions for FAM13A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | Signaling by GPCR | ||
| 3 | Signaling by Rho GTPases | ||
| 4 | Lung fibrosis | ||
Pathways by source for FAM13A Gene
1 BioSystems pathway for FAM13A Gene
3 Reactome pathways for FAM13A Gene
Interacting Proteins for FAM13A Gene
GPS-Prot Interaction Network for FAM13A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
| GO:0043547 | positive regulation of GTPase activity | IEA | -- |
| GO:0051056 | regulation of small GTPase mediated signal transduction | TAS | -- |
Transcripts for FAM13A Gene
mRNA/cDNA for FAM13A Gene
- 5 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264344 5866 nts (view in UCSC)
- ENST00000395002 4945 nts (view in UCSC)
- ENST00000502459 1993 nts (view in UCSC)
- ENST00000502914 587 nts (view in UCSC)
- ENST00000503556 3386 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FAM13A - Starting at $85 >
- * FAM13A CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FAM13A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FAM13A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM13A
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAM13A
- Browse OriGene Inhibitory RNA Products For FAM13A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM13A
Clone products for research
- Applied Biological Materials (abm): Clones for FAM13A - Starting at $45 >
- * FAM13A as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG210083
- MR210083
- MR210083L3
- MR210083L4
- RC214803
- RC214803L1
- RC214803L2
- RC214803L3
- RC214803L4
- RC216561
- RC216561L1
- RC216561L2
- RC216561L3
- RC216561L4
- RC234682
- RC234683
- RC234713
- RG214803
- RG216561
- RG234682
- RG234683
- RG234713
- RR217112
- MR210083L3V
- MR210083L4V
- RC214803L1V
- RC214803L2V
- RC214803L3V
- RC214803L4V
- RC216561L1V
- RC216561L2V
- RC216561L3V
- RC216561L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FAM13A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAM13A
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: |
| ExUns: | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||
| SP14: |
Relevant External Links for FAM13A Gene
- GeneLoc Exon Structure for
- FAM13A
Expression for FAM13A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Bone marrow mesenchymal stem cell (39.3) and Plasma (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM13A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM13A
SOURCE GeneReport for Unigene cluster for FAM13A Gene:
Hs.97270mRNA Expression by UniProt/SwissProt for FAM13A Gene:
O94988-FA13A_HUMAN
Tissue specificity:
Isoform 1 is widely expressed, with highest expression in skeletal muscle, thymus, brain and lung. Isoform 3 is less abundant than isoform 1 and predominantly expressed in kidney, pancreas, liver, lung and thymus.
Evidence on tissue expression from TISSUES for FAM13A Gene
- Nervous system(4.9)
- Intestine(4.4)
- Spleen(4.3)
- Lung(2.5)
- Thyroid gland(2.1)
- Liver(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM13A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- head
- mouth
- salivary gland
Thorax:
- breast
- bronchus
- esophagus
- heart
- lung
- trachea
Abdomen:
- kidney
- liver
- spleen
Pelvis:
- testicle
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- coagulation system
- red blood cell
- skin
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for FAM13A
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for FAM13A Gene
Orthologs for FAM13A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FAM13A1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FAM13A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FAM13A 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Fam13a 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FAM13A 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | FAM13A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FAM13A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam13a 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fam13a 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6424 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for FAM13A 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)
- 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)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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 FAM13A Gene
- ENSEMBL:
- Gene Tree for FAM13A (if available)
- TreeFam:
- Gene Tree for FAM13A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FAM13A: view image
Paralogs for FAM13A Gene
(24) SIMAP similar genes for FAM13A Gene using alignment to 9 proteins:
- FA13A_HUMAN
- D6RCC1_HUMAN
- D6RD35_HUMAN
- D6RFM4_HUMAN
- D6RGE4_HUMAN
- D6RIY4_HUMAN
- E9PGM7_HUMAN
- L0R4X6_HUMAN
- Q6P521_HUMAN
Variants for FAM13A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM13A Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs147595342 | Benign: not provided | 88,731,430(-) |
T/TA NM_014883.4(FAM13A):c.2844-4dup |
INTRON | |
| rs201019743 | Likely Benign: not provided | 88,851,190(-) |
G/A NM_014883.4(FAM13A):c.844-7C>T |
INTRON | |
| rs60527761 | Benign: not provided | 89,020,506(-) |
A/G NM_014883.4(FAM13A):c.381T>C (p.Ser127=) |
SYNONYMOUS | |
| rs74387785 | Likely Benign: not provided | 88,747,647(-) |
C/T NM_014883.4(FAM13A):c.2366G>A (p.Arg789His) |
MISSENSE | |
| rs767389467 | Likely Benign: not provided | 89,029,515(-) |
G/A NM_014883.4(FAM13A):c.162C>T (p.Thr54=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.34;
63.23% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FAM13A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FAM13A
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM13A Gene
Disorders for FAM13A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pulmonary fibrosis, idiopathic |
|
|
| bronchitis |
|
|
| pulmonary disease, chronic obstructive |
|
|
Search FAM13A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FAM13A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
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No data available for UniProtKB/Swiss-Prot and Genatlas for FAM13A Gene
Publications for FAM13A Gene
- Regulation of nuclear-cytoplasmic shuttling and function of Family with sequence similarity 13, member A (Fam13a), by B56-containing PP2As and Akt. (PMID: 25609086) Jin Z … Yang J (Molecular biology of the cell 2015) 2 3
- A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. (PMID: 22080838) Cho MH … COPDGene Investigators (Human molecular genetics 2012) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41
- Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
ExternalLinks
Products for FAM13A Gene
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- antibodies-online: Show 11 available FAM13A Antibodies ranked by validation data
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Sources for FAM13A Gene
- (1) GeneCards
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