Gene Gene information from NCBI Gene database.
Entrez ID 23036
Gene name Zinc finger protein 292
Gene symbol ZNF292
Synonyms (NCBI Gene)
MRD63MRD64Nbla00365ZFP292ZN-16Zn-15bA393I2.3
Chromosome 6
Chromosome location 6q14.3
Summary This gene encodes a growth hormone-dependent, zinc finger transcription factor that functions as a tumor suppressor. Naturally occurring mutations in this gene are associated with gastric cancer, colorectal cancer, and chronic lymphocytic leukemia. [provi
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1135401779 AAGA>- Pathogenic Coding sequence variant, frameshift variant
rs1554208945 A>C Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
268
miRTarBase ID miRNA Experiments Reference
MIRT018531 hsa-miR-335-5p Microarray 18185580
MIRT030961 hsa-miR-21-5p Microarray 18591254
MIRT717473 hsa-miR-5003-3p HITS-CLIP 19536157
MIRT717472 hsa-miR-7151-5p HITS-CLIP 19536157
MIRT717471 hsa-miR-3675-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
GO:0003677 Function DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616213 18410 ENSG00000188994
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60281
Protein name Zinc finger protein 292
Protein function May be involved in transcriptional regulation.
PDB 1X3C , 7N2D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 807 831 Zinc finger, C2H2 type Domain
Sequence
MADEEAEQERLSCGEGGCVAELQRLGERLQELELQLRESRVPAVEAATDYCQQLCQTLLE
YAEKWKTSEDPLPLLEVYTVAIQSYVKARPYLTSECENVALVLERLALSCVELLLCLPVE
LSDKQWEQFQTLVQVAHEKLMENGSCELHFLATLAQETGVWKNPVLCTILSQEPLDKDKV
NEFLAFEGPILLDMRIKHLIKTNQLSQATALAKLCSDHPEIGIKGSFKQTYLVCLCTSSP
NGKLIEEISEVDCKDALEMICNLESEGDEKSALVLCTAFLSRQLQQGDMYCAWELTLFWS
KLQQRVEPSIQVYLERCRQLSLLTKTVYHIFFLIKVINSETEGAGLATCIELCVKALRLE
STENTEVKISICKTISCLLPDDLEVKRACQLSEFLIEPTVDAYYAVEMLYNQPDQKYDEE
NLPIPNSLRCELLLVLKTQWPFDPEFWDWKTLKRQCLALMGEEASIVSSIDELNDSEVYE
KVVDYQEESKETSMNGLSGGVGANSGLLKDIGDEKQKKREIKQLRERGFISARFRNWQAY
MQYCVLCDKEFLGHRIVRHAQKHYKDGIYSCPICAKNFNSKETFVPHVTLHVKQSSKERL
AAMKPLRRLGRPPKITTTNENQKTNTVAKQEQRPIKKNSLYSTDFIVFNDNDGSDDENDD
KDKSYEPEVIPVQKPVPVNEFNCPVTFCKKGFKYFKNLIAHVKGHKDNEDAKRFLEMQSK
KVICQYCRRHFVSVTHLNDHLQMHCGSKPYICIQMKCKAGFNSYAELLTHRKEHQVFRAK
CMFPKCGRIFSEAYLLYDHEAQHYNTYTCKFTGCGKVYRSQGELEKHLDDHSTPPEKVLP
PEAQLNSSGDSIQPSEVNQNTAENIEKERSMLPSENNIENSLLADRSDAWDKSKAESAVT
KQDQISASELRQANGPLSNGLENPATTPLLQSSEVAVSIKVSLNQGIEDNFGKQENSTVE
GSGEALVTDLHTPVEDTCNDLCHPGFQERKEQDCFNDAHVTQNSLVNSETLKIGDLTPQN
LERQVNNLMTFSVQNQAAFQNNLPTSKFECGDNVKTSSNLYNLPLKTLESIAFVPPQSDL
SNSLGTPSVPPKAPVQKFSCQVEGCTRTYNSSQSIGKHMKTAHPDQYAAFKMQRKSKKGQ
KANNLNTPNNGKFVYFLPSPVNSSNPFFTSQTKANGNPACSAQLQHVSPPIFPAHLASVS
TPLLSSMESVINPNITSQDKNEQGGMLCSQMENLPSTALPAQMEDLTKTVLPLNIDSGSD
PFLPLPAESSSMSLFPSPADSGTNSVFSQLENNTNHYSSQIEGNTNSSFLKGGNGENAVF
PSQVNVANNFSSTNAQQSAPEKVKKDRGRGPNGKERKPKHNKRAKWPAIIRDGKFICSRC
YRAFTNPRSLGGHLSKRSYCKPLDGAEIAQELLQSNGQPSLLASMILSTNAVNLQQPQQS
TFNPEACFKDPSFLQLLAENRSPAFLPNTFPRSGVTNFNTSVSQEGSEIIKQALETAGIP
STFEGAEMLSHVSTGCVSDASQVNATVMPNPTVPPLLHTVCHPNTLLTNQNRTSNSKTSS
IEECSSLPVFPTNDLLLKTVENGLCSSSFPNSGGPSQNFTSNSSRVSVISGPQNTRSSHL
NKKGNSASKRRKKVAPPLIAPNASQNLVTSDLTTMGLIAKSVEIPTTNLHSNVIPTCEPQ
SLVENLTQKLNNVNNQLFMTDVKENFKTSLESHTVLAPLTLKTENGDSQMMALNSCTTSI
NSDLQISEDNVIQNFEKTLEIIKTAMNSQILEVKSGSQGAGETSQNAQINYNIQLPSVNT
VQNNKLPDSSPFSSFISVMPTKSNIPQSEVSHKEDQIQEILEGLQKLKLENDLSTPASQC
VLINTSVTLTPTPVKSTADITVIQPVSEMINIQFNDKVNKPFVCQNQGCNYSAMTKDALF
KHYGKIHQYTPEMILEIKKNQLKFAPFKCVVPTCTKTFTRNSNLRAHCQLVHHFTTEEMV
KLKIKRPYGRKSQSENVPASRSTQVKKQLAMTEENKKESQPALELRAETQNTHSNVAVIP
EKQLVEKKSPDKTESSLQVITVTSEQCNTNALTNTQTKGRKIRRHKKEKEEKKRKKPVSQ
SLEFPTRYSPYRPYRCVHQGCFAAFTIQQNLILHYQAVHKSDLPAFSAEVEEESEAGKES
EETETKQTLKEFRCQVSDCSRIFQAITGLIQHYMKLHEMTPEEIESMTASVDVGKFPCDQ
LECKSSFTTYLNYVVHLEADHGIGLRASKTEEDGVYKCDCEGCDRIYATRSNLLRHIFNK
HNDKHKAHLIRPRRLTPGQENMSSKANQEKSKSKHRGTKHSRCGKEGIKMPKTKRKKKNN
LENKNAKIVQIEENKPYSLKRGKHVYSIKARNDALSECTSRFVTQYPCMIKGCTSVVTSE
SNIIRHYKCHKLSKAFTSQHRNLLIVFKRCCNSQVKETSEQEGAKNDVKDSDTCVSESND
NSRTTATVSQKEVEKNEKDEMDELTELFITKLINEDSTSVETQANTSSNVSNDFQEDNLC
QSERQKASNLKRVNKEKNVSQNKKRKVEKAEPASAAELSSVRKEEETAVAIQTIEEHPAS
FDWSSFKPMGFEVSFLKFLEESAVKQKKNTDKDHPNTGNKKGSHSNSRKNIDKTAVTSGN
HVCPCKESETFVQFANPSQLQCSDNVKIVLDKNLKDCTELVLKQLQEMKPTVSLKKLEVH
SNDPDMSVMKDISIGKATGRGQY
Sequence length 2723
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
240
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant non-syndromic intellectual disability Likely pathogenic rs2482324124 RCV004577411
Intellectual developmental disorder, autosomal dominant 64 Likely pathogenic; Pathogenic rs2127862686, rs2127871142, rs2127864363, rs2127867444, rs2127870787, rs867732475, rs764995318, rs2127871067, rs2127872112, rs1775506324, rs1253246966, rs2482313661, rs2482327974, rs2482358615, rs2482346171
View all (18 more)
RCV003151863
RCV001775314
RCV001775419
RCV001806689
RCV001807990
RCV001813899
RCV005053987
RCV002244190
RCV002272811
RCV002287606
RCV004771520
RCV002465379
RCV002471295
RCV002471768
RCV003127381
RCV003140493
RCV003149126
RCV003223511
RCV003314278
RCV003322654
RCV003330358
RCV003388972
RCV003596257
RCV003993714
RCV006249912
RCV004595278
RCV001292572
RCV001292569
RCV001292573
RCV001292570
RCV004762032
RCV001292574
RCV001292571
RCV001810008
Intellectual disability Likely pathogenic; Pathogenic rs764995318, rs1135401779, rs865909396, rs1775154516, rs1775236367, rs1301328139 RCV001815148
RCV000496170
RCV001260783
RCV001260789
RCV001260830
RCV001260794
Microcephaly Likely pathogenic; Pathogenic rs1775264625 RCV001290249
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arterial calcification, generalized, of infancy, 1 Uncertain significance rs139053622 RCV004813242
Autism Benign rs556062202 RCV003328511
Complex neurodevelopmental disorder Uncertain significance; Conflicting classifications of pathogenicity rs2127874099, rs2482298524 RCV002225244
RCV002466852
Gastric cancer Benign; Likely benign rs61747660 RCV005910726
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 21116278
Arthritis Rheumatoid Associate 25880754
Attention Deficit and Disruptive Behavior Disorders Associate 30564305
Autism Spectrum Disorder Associate 27824329
Autistic Disorder Associate 27824329, 29904178, 30564305
Breast Neoplasms Associate 33201835
Carcinoma Hepatocellular Associate 33336730
Developmental Disabilities Associate 29904178, 31723249
Neoplasms Associate 33201835
Orofaciodigital Syndromes Associate 19587378