Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84146
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 644
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF644
Synonyms (NCBI Gene) Gene synonyms aliases
BM-005, MYP21, NatF, ZEP-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MYP21
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs146936371 T>A,C Pathogenic Intron variant, missense variant, coding sequence variant
rs387907109 T>C Pathogenic Coding sequence variant, missense variant, intron variant
rs587776903 C>T Pathogenic 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025378 hsa-miR-34a-5p Sequencing 20371350
MIRT031171 hsa-miR-19b-3p Sequencing 20371350
MIRT032169 hsa-let-7d-5p Sequencing 20371350
MIRT052493 hsa-let-7a-5p CLASH 23622248
MIRT051132 hsa-miR-16-5p 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 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 25789554
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 25789554
GO:0001226 Function RNA polymerase II transcription corepressor binding IPI 29628311
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614159 29222 ENSG00000122482
Protein
UniProt ID Q9H582
Protein name Zinc finger protein 644 (Zinc finger motif enhancer-binding protein 2) (Zep-2)
Protein function May be involved in transcriptional regulation.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, placenta, retina and retinal pigment epithelium. {ECO:0000269|PubMed:21695231}.
Sequence
MRSFLQQDVNKTKSRLNVLNGLANNMDDLKINTDITGAKEELLDDNNFISDKESGVHKPK
DCQTSFQKNNTLTLPEELSKDKSENALSGGQSSLFIHAGAPTVSSENFILPKGAAVNGPV
SHSSLTKTSNMNKGSVSLTTGQPVDQPTTESCSTLKVAADLQLSTPQKASQHQVLFLLSD
VAHAKNPTHSNKKLPTSASVGCDIQNSVGSNIKSDGTLINQVEVGEDGEDLLVKDDCVNT
VTGISSGTDGFRSENDTNWDPQKEFIQFLMTNEETVDKAPPHSKIGLEKKRKRKMDVSKI
TRYTEDCFSDSNCVPNKSKMQEVDFLEQNEELQAVDSQKYALSKVKPESTDEDLESVDAF
QHLIYNPDKCGEESSPVHTSTFLSNTLKKKCEESDSESPATFSTEEPSFYPCTKCNVNFR
EKKHLHRHMMYHLDGNSHFRHLNVPRPYACRECGRTFRDRNSLLKHMIIHQERRQKLMEE
IRELKELQDEGRSARLQCPQCVFGTNCPKTFVQHAKTHEKDKRYYCCEECNFMAVTENEL
ECHRGIAHGAVVKCPMVTSDIAQRKTQKKTFMKDSVVGSSKKSATYICKMCPFTTSAKSV
LKKHTEYLHSSSCVDSFGSPLGLDKRKNDILEEPVDSDSTKTLTKQQSTTFPKNSALKQD
VKRTFGSTSQSSSFSKIHKRPHRIQKARKSIAQSGVNMCNQNSSPHKNVTIKSSVDQKPK
YFHQAAKEKSNAKANSHYLYRHKYENYRMIKKSGESYPVHFKKEEASSLNSLHLFSSSSN
SHNNFISDPHKPDAKRPESFKDHRRVAVKRVIKESKKESSVGGEDLDSYPDFLHKMTVVV
LQKLNSAEKKDSYETEDESSWDNVELGDYTTQAIEDETYSDINQEHVNLFPLFKSKVEGQ
EPGENATLSYDQNDGFYFEYYEDTGSNNFLHEIHDPQHLETADASLSKHSSVFHWTDLSL
EKKSCPYCPATFETGVGLSNHVRGHLHRAGLSYEARHVVSPEQIATSDKMQHFKRTGTGT
PVKRVRKAIEKSETTSEHTCQLCGGWFDTKIGLSNHVRGHLKRLGKTKWDAHKSPICVLN
EMMQNEEKYEKILKALNSRRIIPRPFVAQKLASSDDFISQNVIPLEAYRNGLKTEALSVS
ASEEEGLNFLNEYDETKPELPSGKKNQSLTLIELLKNKRMGEERNSAISPQKIHNQTARK
RFVQKCVLPLNEDSPLMYQPQKMDLTMHSALDCKQKKSRSRSGSKKKMLTLPHGADEVYI
LRCRFCGLVFRGPLSVQEDWIKHLQRHIVNANLPRTGAGMVEVTSLLKKPASITETSFSL
LMAEAAS
Sequence length 1327
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Myopia Severe myopia, MYOPIA 21, AUTOSOMAL DOMINANT rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
25525168, 22539872, 21695231, 24991186
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 25880754
Myopia Associate 21695231, 22539872, 24991186, 27034204, 35002215
Myopia 2 Associate 24991186
Retinitis Associate 21695231