Gene Gene information from NCBI Gene database.
Entrez ID 84146
Gene name Zinc finger protein 644
Gene symbol ZNF644
Synonyms (NCBI Gene)
BM-005MYP21NatFZEP-2
Chromosome 1
Chromosome location 1p22.2
Summary 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.
3
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.
369
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 25789554
GO:0001222 Function Transcription corepressor binding IPI 29628311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614159 29222 ENSG00000122482
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Myopia 21, autosomal dominant Pathogenic rs387907109, rs146936371, rs587776903 RCV000024103
RCV000024104
RCV000024105
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
KIDNEY FAILURE, ACUTE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOPIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 25880754 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Myopia Myopia Pubtator 21695231, 22539872, 24991186, 27034204, 35002215 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myopia Myopia BEFREE 22539872
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myopia 2 Myopia Pubtator 24991186 Associate
★☆☆☆☆
Found in Text Mining only
MYOPIA 21, AUTOSOMAL DOMINANT Myopia UNIPROT_DG 21695231, 22539872, 24991186, 25525168
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYOPIA 21, AUTOSOMAL DOMINANT Myopia CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYOPIA 21, AUTOSOMAL DOMINANT Myopia CTD_human_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia, Degenerative Myopia BEFREE 23379998
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis BEFREE 25880754
★☆☆☆☆
Found in Text Mining only