Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3097
Gene name Gene Name - the full gene name approved by the HGNC.
HIVEP zinc finger 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HIVEP2
Synonyms (NCBI Gene) Gene synonyms aliases
HIV-EP2, MBP-2, MIBP1, MRD43, SHN2, ZAS2, ZNF40B
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth,
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs373421716 G>A,C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs761993070 C>A,G,T Pathogenic Missense variant, coding sequence variant, stop gained
rs869312841 G>A Pathogenic Stop gained, coding sequence variant
rs869312842 G>A Pathogenic Stop gained, coding sequence variant
rs869312843 C>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000974 hsa-miR-155-5p Luciferase reporter assay 18367535
MIRT000974 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 20427544
MIRT020335 hsa-miR-130b-3p Sequencing 20371350
MIRT000974 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT041806 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 2022670, 2247438
GO:0005515 Function Protein binding IPI 20936779, 28514442, 33961781, 36931259
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
143054 4921 ENSG00000010818
Protein
UniProt ID P31629
Protein name Transcription factor HIVEP2 (Human immunodeficiency virus type I enhancer-binding protein 2) (HIV-EP2) (MHC-binding protein 2) (MBP-2)
Protein function This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 189 211 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 1799 1821 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 1827 1851 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and skeletal muscle. {ECO:0000269|PubMed:10207097}.
Sequence
MDTGDTALGQKATSRSGETDKASGRWRQEQSAVIKMSTFGSHEGQRQPQIEPEQIGNTAS
AQLFGSGKLASPSEVVQQVAEKQYPPHRPSPYSCQHSLSFPQHSLPQGVMHSTKPHQSLE
GPPWLFPGPLPSVASEDLFPFPIHGHSGGYPRKKISSLNPAYSQYSQKSIEQAEEAHKKE
HKPKKPGKYICPYCSRACAKPSVLKKHIRSHTGERPYPCIPCGFSFKTKSNLYKHRKSHA
HAIKAGLVPFTESAVSKLDLEAGFIDVEAEIHSDGEQSTDTDEESSLFAEASDKMSPGPP
IPLDIASRGGYHGSLEESLGGPMKVPILIIPKSGIPLPNESSQYIGPDMLPNPSLNTKAD
DSHTVKQKLALRLSEKKGQDSEPSLNLLSPHSKGSTDSGYFSRSESAEQQISPPNTNAKS
YEEIIFGKYCRLSPRNALSVTTTSQERAAMGRKGIMEPLPHVNTRLDVKMFEDPVSQLIP
SKGDVDPSQTSMLKSTKFNSESRQPQIIPSSIRNEGKLYPANFQGSNPVLLEAPVDSSPL
IRSNSVPTSSATNLTIPPSLRGSHSFDERMTGSDDVFYPGTVGIPPQRMLRRQAAFELPS
VQEGHVEVEHHGRMLKGISSSSLKEKKLSPGDRVGYDYDVCRKPYKKWEDSETPKQNYRD
ISCLSSLKHGGEYFMDPVVPLQGVPSMFGTTCENRKRRKEKSVGDEEDTPMICSSIVSTP
VGIMASDYDPKLQMQEGVRSGFAMAGHENLSHGHTERFDPCRPQLQPGSPSLVSEESPSA
IDSDKMSDLGGRKPPGNVISVIQHTNSLSRPNSFERSESAELVACTQDKAPSPSETCDSE
ISEAPVSPEWAPPGDGAESGGKPSPSQQVQQQSYHTQPRLVRQHNIQVPEIRVTEEPDKP
EKEKEAQSKEPEKPVEEFQWPQRSETLSQLPAEKLPPKKKRLRLADMEHSSGESSFESTG
TGLSRSPSQESNLSHSSSFSMSFEREETSKLSALPKQDEFGKHSEFLTVPAGSYSLSVPG
HHHQKEMRRCSSEQMPCPHPAEVPEVRSKSFDYGNLSHAPVSGAAASTVSPSRERKKCFL
VRQASFSGSPEISQGEVGMDQSVKQEQLEHLHAGLRSGWHHGPPAVLPPLQQEDPGKQVA
GPCPPLSSGPLHLAQPQIMHMDSQESLRNPLIQPTSYMTSKHLPEQPHLFPHQETIPFSP
IQNALFQFQYPTVCMVHLPAQQPPWWQAHFPHPFAQHPQKSYGKPSFQTEIHSSYPLEHV
AEHTGKKPAEYAHTKEQTYPCYSGASGLHPKNLLPKFPSDQSSKSTETPSEQVLQEDFAS
ANAGSLQSLPGTVVPVRIQTHVPSYGSVMYTSISQILGQNSPAIVICKVDENMTQRTLVT
NAAMQGIGFNIAQVLGQHAGLEKYPIWKAPQTLPLGLESSIPLCLPSTSDSVATLGGSKR
MLSPASSLELFMETKQQKRVKEEKMYGQIVEELSAVELTNSDIKKDLSRPQKPQLVRQGC
ASEPKDGLQSGSSSFSSLSPSSSQDYPSVSPSSREPFLPSKEMLSGSRAPLPGQKSSGPS
ESKESSDELDIDETASDMSMSPQSSSLPAGDGQLEEEGKGHKRPVGMLVRMASAPSGNVA
DSTLLLTDMADFQQILQFPSLRTTTTVSWCFLNYTKPNYVQQATFKSSVYASWCISSCNP
NPSGLNTKTTLALLRSKQKITAEIYTLAAMHRPGTGKLTSSSAWKQFTQMKPDASFLFGS
KLERKLVGNILKERGKGDIHGDKDIGSKQTEPIRIKIFEGGYKSNEDYVYVRGRGRGKYI
CEECGIRCKKPSMLKKHIRTH
TDVRPYVCKLCNFAFKTKGNLTKHMKSKAHMKKCLELGV
SMTSVDDTETEEAENLEDLHKAAEKHSMSSISTDHQFSDAEESDGEDGDDNDDDDEDEDD
FDDQGDLTPKTRSRSTSPQPPRFSSLPVNVGAVPHGVPSDSSLGHSSLISYLVTLPSIRV
TQLMTPSDSCEDTQMTEYQRLFQSKSTDSEPDKDRLDIPSCMDEECMLPSEPSSSPRDFS
PSSHHSSPGYDSSPCRDNSPKRYLIPKGDLSPRRHLSPRRDLSPMRHLSPRKEAALRREM
SQRDVSPRRHLSPRRPVSPGKDITARRDLSPRRERRYMTTIRAPSPRRALYHNPPLSMGQ
YLQAEPIVLGPPNLRRGLPQVPYFSLYGDQEGAYEHPGSSLFPEGPNDYVFSHLPLHSQQ
QVRAPIPMVPVGGIQMVHSMPPALSSLHPSPTLPLPMEGFEEKKGASGESFSKDPYVLSK
QHEKRGPHALQSSGPPSTPSSPRLLMKQSTSEDSLNATEREQEENIQTCTKAIASLRIAT
EEAALLGPDQPARVQEPHQNPLGSAHVSIRHFSRPEPGQPCTSATHPDLHDGEKDNFGTS
QTPLAHSTFYSKSCVDDKQLDFHSSKELSSSTEESKDPSSEKSQLH
Sequence length 2446
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 43, intellectual disability rs878853251, rs878853269, rs1064796034, rs1554274371, rs761993070, rs1554275163, rs869312844, rs1562505675, rs869312842, rs1562493608, rs869312843, rs1562505335, rs869312841, rs869312847 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anxiety Associate 26153216, 35052433
Asthma Associate 32119686
Attention Deficit Disorder with Hyperactivity Associate 35052433
Autism Spectrum Disorder Associate 35052433
Congenital Abnormalities Associate 27003583
Developmental Disabilities Associate 27003583
Hyperkinesis Associate 26153216
Intellectual Disability Associate 26153216, 27003583
Leukemia Myeloid Acute Associate 35535739
Memory Disorders Associate 26153216