Free for academic non-profit institutions. Other users need a Commercial license
Aliases for LOC112694756 Gene
Aliases for LOC112694756 Gene
External Ids for LOC112694756 Gene
- Entrez Gene: 112694756
- Ensembl: ENSG00000285043
- UniProtKB: H3BUK5
- UniProtKB: A0A2R8YDM7
- UniProtKB: A0A2U3TZM8
- UniProtKB: A0A2R8Y4T6
- UniProtKB: A0A2U3TZJ4
Previous GeneCards Identifiers for LOC112694756 Gene
- GC16U902608
Summaries for LOC112694756 Gene
GeneCards Summary for LOC112694756 Gene
LOC112694756 (Uncharaterized LOC112694756) is a Protein Coding gene. An important paralog of this gene is ALDOA.
Additional gene information for LOC112694756 Gene
- Entrez Gene(112694756)
- Ensembl(ENSG00000285043)
- UniProtKB(H3BUK5)
- UniProtKB(A0A2R8YDM7)
- UniProtKB(A0A2U3TZM8)
- UniProtKB(A0A2R8Y4T6)
- UniProtKB(A0A2U3TZJ4)
- Search for LOC112694756 at DataMed
- Search for LOC112694756 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 LOC112694756 Gene
Genomics for LOC112694756 Gene
GeneHancer (GH) Regulatory Elements for LOC112694756 Gene
Promoters and enhancers for LOC112694756 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH16J030051 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 750.6 | +0.3 | 326 | 4.6 | E2F8 ZNF785 SIN3A ZBTB40 SP1 CTCF MLX RBPJ POLR2A CTBP1 | ALDOA LOC112694756 TLCD3B SRCAP SETD1A INO80E NPIPB12 ZNF764 SMG1P5 ZNF747 | |
| GH16J030063 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 0.4 | +13.8 | 13785 | 7.8 | ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SREBF1 FOXA1 MLX RBPJ | piR-38178 ALDOA SMG1P5 SRCAP SETD1A NPIPB12 SMG1P2 RNF40 FBRS INO80E | |
| GH16J030059 | Enhancer | 1.1 | Ensembl ENCODE dbSUPER | 0.4 | +8.0 | 7976 | 2.7 | ZNF217 DACH1 MNT TEAD4 NFIB CBFA2T2 MYC CREB1 ZIC2 PRDM10 | piR-35674-187 YPEL3 ENSG00000274904 ALDOA LOC112694756 | |
| GH16J030057 | Enhancer | 0.3 | dbSUPER | 0.6 | +4.8 | 4830 | 1.8 | ZNF24 ZFP91 | piR-35674-187 YPEL3 ALDOA LOC112694756 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around LOC112694756 on UCSC Golden Path with GeneCards custom track
Genomic Locations for LOC112694756 Gene
Genomic Locations for LOC112694756 Gene
- chr16:30,053,090-30,070,420
- (GRCh38/hg38)
- Size:
- 17,331 bases
- Orientation:
- Plus strand
Genomic View for LOC112694756 Gene
Genes around LOC112694756 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by Ensembl
LOC112694756 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 LOC112694756 Gene
Proteins for LOC112694756 Gene
-
Protein details for LOC112694756 Gene (UniProtKB/TrEMBL)
- Protein Symbol:
- A0A2R8Y4T6-A0A2R8Y4T6_HUMAN
- Recommended name:
- Uncharacterized protein
- Protein Accession:
- A0A2R8Y4T6
Protein attributes for LOC112694756 Gene
- Size:
- 39 amino acids
- Molecular mass:
- 4468 Da
- Quaternary structure:
- No Data Available
-
Protein details for LOC112694756 Gene (UniProtKB/TrEMBL)
- Protein Symbol:
- A0A2R8YDM7-A0A2R8YDM7_HUMAN
- Recommended name:
- Uncharacterized protein
- Protein Accession:
- A0A2R8YDM7
Protein attributes for LOC112694756 Gene
- Size:
- 87 amino acids
- Molecular mass:
- 9472 Da
- Quaternary structure:
- No Data Available
-
Protein details for LOC112694756 Gene (UniProtKB/TrEMBL)
- Protein Symbol:
- A0A2U3TZM8-A0A2U3TZM8_HUMAN
- Recommended name:
- Uncharacterized protein
- Protein Accession:
- A0A2U3TZM8
Protein attributes for LOC112694756 Gene
- Size:
- 278 amino acids
- Molecular mass:
- 28887 Da
- Quaternary structure:
- No Data Available
-
Protein details for LOC112694756 Gene (UniProtKB/TrEMBL)
- Protein Symbol:
- A0A2U3TZJ4-A0A2U3TZJ4_HUMAN
- Recommended name:
- Uncharacterized protein
- Protein Accession:
- A0A2U3TZJ4
Protein attributes for LOC112694756 Gene
- Size:
- 139 amino acids
- Molecular mass:
- 14798 Da
- Quaternary structure:
- No Data Available
-
Protein details for LOC112694756 Gene (UniProtKB/TrEMBL)
- Protein Symbol:
- H3BUK5-H3BUK5_HUMAN
- Recommended name:
- Uncharacterized protein
- Protein Accession:
- H3BUK5
Protein attributes for LOC112694756 Gene
- Size:
- 91 amino acids
- Molecular mass:
- 9794 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for LOC112694756 Gene
No Post-translational modifications
Other Protein References for LOC112694756 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for LOC112694756
- Origene Custom Protein Services for LOC112694756
No data available for DME Specific Peptides for LOC112694756 Gene
Domains & Families for LOC112694756 Gene
Protein Domains for LOC112694756 Gene
- ProtoNet:
No data available for Gene Families , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC112694756 Gene
Function for LOC112694756 Gene
Phenotypes From GWAS Catalog for LOC112694756 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004332 | fructose-bisphosphate aldolase activity | IEA | -- |
| GO:0016829 | lyase activity | IEA | -- |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
miRNA Products
Inhibitory RNA Products
Clone Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC112694756 Gene
Localization for LOC112694756 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IDA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for LOC112694756 Gene
Pathways & Interactions for LOC112694756 Gene
Interacting Proteins for LOC112694756 Gene
GPS-Prot Interaction Network for LOC112694756
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006096 | glycolytic process | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for LOC112694756 Gene
Transcripts for LOC112694756 Gene
mRNA/cDNA for LOC112694756 Gene
- (3) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000338110 2390 bps (ENST00000338110.10)
- ENST00000395248 2430 bps (ENST00000395248.6)
- ENST00000575627 573 bps (ENST00000575627.5)
- ENST00000566897 2448 bps (ENST00000566897.6)
- ENST00000568435 935 bps (ENST00000568435.6)
miRNA Products
Inhibitory RNA Products
Clone Products
Relevant External Links for LOC112694756 Gene
- GeneLoc Exon Structure for
- LOC112694756
Expression for LOC112694756 Gene
No Expression Related Data Available
Primer Products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 LOC112694756 Gene
Orthologs for LOC112694756 Gene
No data available for Orthologs for LOC112694756 Gene
Paralogs for LOC112694756 Gene
Variants for LOC112694756 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121909533 | pathogenic, HNSHA due to aldolase A deficiency | 30,068,824(+) | A/G | 3_prime_UTR_variant | |
| rs121909534 | pathogenic, HNSHA due to aldolase A deficiency | 30,069,384(+) | G/A | 3_prime_UTR_variant | |
| rs138824667 | uncertain-significance, likely-benign, HNSHA due to aldolase A deficiency, not specified | 30,070,156(+) | G/A/T | 3_prime_UTR_variant | |
| rs142315181 | uncertain-significance, HNSHA due to aldolase A deficiency | 30,069,975(+) | C/T | 3_prime_UTR_variant | |
| rs142759891 | uncertain-significance, not specified, HNSHA due to aldolase A deficiency | 30,069,634(+) | G/A | 3_prime_UTR_variant |
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC112694756 Gene
Disorders for LOC112694756 Gene
No disorders were found for LOC112694756 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC112694756 Gene
Publications for LOC112694756 Gene
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 56
- The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 13 56
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 56
No data available for External Links for LOC112694756 Gene
Products for LOC112694756 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 LOC112694756
- Origene Custom Protein Services for LOC112694756
- Browse OriGene Inhibitory RNA Products For LOC112694756
- Browse OriGene qPCR primer pairs and template standards
- Browse CRISPR knockouts for LOC112694756
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For LOC112694756
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- 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 LOC112694756
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for LOC112694756
- Search GeneCopoeia for miRNA 3'UTR Target clone products for LOC112694756
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for LOC112694756
Sources for LOC112694756 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) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource