Aliases for PRR12 Gene
External Ids for PRR12 Gene
- HGNC: 29217
- Entrez Gene: 57479
- Ensembl: ENSG00000126464
- OMIM: 616633
- UniProtKB: Q9ULL5
Previous HGNC Symbols for PRR12 Gene
- KIAA1205
Previous GeneCards Identifiers for PRR12 Gene
- GC19P054787
- GC19P054788
- GC19P050094
- GC19P046472
Summaries for PRR12 Gene
-
This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]
GeneCards Summary for PRR12 Gene
PRR12 (Proline Rich 12) is a Protein Coding gene. Diseases associated with PRR12 include Coloboma Of Iris and Aland Island Eye Disease. An important paralog of this gene is QSER1.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRR12 Gene
Genomics for PRR12 Gene
GeneHancer (GH) Regulatory Elements for PRR12 Gene
Promoters and enhancers for PRR12 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 PRR12 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PRR12 gene promoter:
-
- Zic3
- Egr-2
- Egr-4
- p53
- HOXA5
- c-Myb
- NF-kappaB1
- NF-kappaB
- RelA
- STAT5A
Regulatory Element Products
Genomic Locations for PRR12 Gene
Genomic Locations for PRR12 Gene
- chr19:49,591,643-49,626,439
- (GRCh38/hg38)
- Size:
- 34,797 bases
- Orientation:
- Plus strand
- chr19:50,094,900-50,129,696
- (GRCh37/hg19)
- Size:
- 34,797 bases
- Orientation:
- Plus strand
Genomic View for PRR12 Gene
Genes around PRR12 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by Entrez Gene
- 19q13.33 by HGNC
- 19q13.33 by Ensembl
PRR12 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 PRR12 Gene
Proteins for PRR12 Gene
-
Protein details for PRR12 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9ULL5-PRR12_HUMAN
- Recommended name:
- Proline-rich protein 12
- Protein Accession:
- Q9ULL5
- E9PB06
- Q8N4J6
Protein attributes for PRR12 Gene
- Size:
- 1215 amino acids
- Molecular mass:
- 129991 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA86519.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for PRR12 Gene
Post-translational modifications for PRR12 Gene
Other Protein References for PRR12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PRR12
- Invitrogen Antibodies for PRR12 (AFLGC-PRR12)
- Search GeneTex for Antibodies for PRR12
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PRR12
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- Novus Biologicals proteins for PRR12
- Search GeneTex for Proteins for PRR12
Assay Products
No data available for DME Specific Peptides for PRR12 Gene
Domains & Families for PRR12 Gene
Gene Families for PRR12 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for PRR12 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for PRR12 Gene
Function for PRR12 Gene
Phenotypes From GWAS Catalog for PRR12 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PRR12
-
CRISPR Products
-
OriGene CRISPR knockouts for PRR12
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRR12
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miRNA for PRR12 Gene
- miRTarBase miRNAs that target PRR12
-
- hsa-mir-744-5p (MIRT037713)
- hsa-mir-615-3p (MIRT039614)
- hsa-mir-320a (MIRT044430)
- hsa-mir-34a-5p (MIRT047382)
- hsa-mir-92a-3p (MIRT049155)
- hsa-mir-16-5p (MIRT051075)
- hsa-mir-6763-5p (MIRT453530)
- hsa-mir-3150a-3p (MIRT453531)
- hsa-mir-6515-5p (MIRT453532)
- hsa-mir-6778-5p (MIRT453533)
- hsa-mir-1233-5p (MIRT453534)
- hsa-mir-6848-5p (MIRT453535)
- hsa-mir-7847-3p (MIRT453536)
- hsa-mir-6846-5p (MIRT453537)
- hsa-mir-6825-5p (MIRT453538)
- hsa-mir-939-5p (MIRT453539)
- hsa-mir-1343-5p (MIRT453540)
- hsa-mir-3175 (MIRT453541)
- hsa-mir-6799-5p (MIRT453542)
- hsa-mir-6883-5p (MIRT453543)
- hsa-mir-6785-5p (MIRT453544)
- hsa-mir-4728-5p (MIRT453545)
- hsa-mir-6797-5p (MIRT453546)
- hsa-mir-149-3p (MIRT453547)
- hsa-mir-1249-5p (MIRT453548)
- hsa-mir-766-5p (MIRT453549)
- hsa-mir-6133 (MIRT453550)
- hsa-mir-6130 (MIRT453551)
- hsa-mir-6129 (MIRT453552)
- hsa-mir-6127 (MIRT453553)
- hsa-mir-4419a (MIRT453554)
- hsa-mir-4510 (MIRT453555)
- hsa-mir-194-3p (MIRT453556)
- hsa-mir-6805-5p (MIRT453557)
- hsa-mir-4786-5p (MIRT521622)
- hsa-mir-6849-3p (MIRT521624)
- hsa-mir-1273g-3p (MIRT736822)
- hsa-mir-4666b (MIRT746788)
- hsa-mir-5011-3p (MIRT749521)
- hsa-mir-6076 (MIRT751690)
- hsa-mir-6797-3p (MIRT756169)
- hsa-mir-6807-5p (MIRT756538)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for PRR12
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- genomics-online: cdna clones - Search results for available PRR12 gene related products
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- Applied Biological Materials Clones for PRR12
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PRR12
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRR12 Gene
Localization for PRR12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PRR12 Gene
- Nucleus. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse, synaptosome.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 3 |
| cytosol | 3 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0014069 | postsynaptic density | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for PRR12 Gene
No Data Available
Interacting Proteins for PRR12 Gene
GPS-Prot Interaction Network for PRR12
No data available for Pathways by source and SIGNOR curated interactions for PRR12 Gene
Transcripts for PRR12 Gene
mRNA/cDNA for PRR12 Gene
- (1) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (3) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000418929 6955 bps (uc002poo.5)
- ENST00000593853 265 bps (uc061bgf.1)
- ENST00000615927 4479 bps (uc061bge.1)
Unigene Clusters for PRR12 Gene
- Proline rich 12:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PRR12
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- Applied Biological Materials CRISPR for PRR12
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRR12
- GenScript: Design CRISPR guide RNA sequences for PRR12
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRR12
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Clone Products
- Sino Biological Human cDNA Clone for PRR12
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- genomics-online: cdna clones - Search results for available PRR12 gene related products
- orf clones - Search results for available PRR12 gene related products
- Applied Biological Materials Clones for PRR12
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PRR12 Gene
This gene is overexpressed in Fetal gut (21.9), CD8 Tcells (12.8), and Blymphocyte (11.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRR12 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PRR12 Gene:
PRR12SOURCE GeneReport for Unigene cluster for PRR12 Gene:
Hs.590971Evidence on tissue expression from TISSUES for PRR12 Gene
- Nervous system(4.3)
- Liver(4.1)
- Pancreas(4.1)
Primer Products
-
OriGene qPCR primer pairs for PRR12
- genomics-online: primer clones - Search results for available PRR12 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRR12 Gene
Orthologs for PRR12 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PRR12 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PRR12 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PRR12 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Prr12 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Prr12 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PRR12 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PRR12 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | prr12 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | prr12b 34 |
|
OneToOne | |
| wufj88e10 33 |
|
- Species where no ortholog for PRR12 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)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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 PRR12 Gene
- ENSEMBL:
- Gene Tree for PRR12 (if available)
- TreeFam:
- Gene Tree for PRR12 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PRR12: view image
Paralogs for PRR12 Gene
Pseudogenes.org Pseudogenes for PRR12 Gene
Variants for PRR12 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs863223365 | benign, Abnormality of neuronal migration | 49,601,543(+) | /CCCTCA | coding_sequence_variant, inframe_indel, inframe_insertion | |
| rs1000012404 | -- | 49,592,411(+) | C/T | intron_variant | |
| rs1000082702 | -- | 49,590,226(+) | G/A | upstream_transcript_variant | |
| rs1000085512 | -- | 49,592,643(+) | T/C | intron_variant | |
| rs1000167770 | -- | 49,606,639(+) | A/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv21818 | CNV | gain | 19812545 |
| nsv1071938 | CNV | deletion | 25765185 |
| nsv1072360 | CNV | deletion | 25765185 |
| nsv1118832 | CNV | deletion | 24896259 |
| nsv1136288 | CNV | deletion | 24896259 |
| nsv1138718 | CNV | deletion | 24896259 |
| nsv1160655 | CNV | deletion | 26073780 |
| nsv469715 | CNV | gain+loss | 16826518 |
| nsv470150 | CNV | gain | 18288195 |
| nsv817854 | CNV | gain | 17921354 |
| nsv828578 | CNV | loss | 20364138 |
| nsv833863 | CNV | loss | 17160897 |
| nsv833864 | CNV | gain | 17160897 |
| nsv833865 | CNV | gain+loss | 17160897 |
| nsv953600 | CNV | deletion | 24416366 |
| nsv9739 | CNV | gain+loss | 18304495 |
Residual Variation Intolerance Score:
1.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.89;
59.16% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PRR12 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PRR12
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRR12 Gene
Disorders for PRR12 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coloboma of iris |
|
|
| aland island eye disease |
|
|
| autism |
|
|
| coloboma of macula |
|
|
Search PRR12 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PRR12
No data available for UniProtKB/Swiss-Prot and Genatlas for PRR12 Gene
Publications for PRR12 Gene
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
- 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 58
- Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PMID: 10737800) Dias Neto E … Simpson AJ (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58
- The Dual Estrogen Receptor α Inhibitory Effects of the Tissue-Selective Estrogen Complex for Endometrial and Breast Safety. (PMID: 26487511) Han SJ … O'Malley BW (Molecular pharmacology 2016) 3 58
Products for PRR12 Gene
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Sources for PRR12 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
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- (148) abm
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- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
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- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt