Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	257101
Gene name	Zinc finger protein 683
Gene symbol	ZNF683
Synonyms (NCBI Gene)	Hobit
Chromosome	1
Chromosome location	1p36.11

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	26179882
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	26179882
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	26179882
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002682	Process	Regulation of immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	ISS
GO:0010628	Process	Positive regulation of gene expression	IDA	26179882
GO:0010628	Process	Positive regulation of gene expression	IDA	26179882
GO:0032649	Process	Regulation of type II interferon production	IDA	26179882
GO:0032689	Process	Negative regulation of type II interferon production	IDA	26179882
GO:0032823	Process	Regulation of natural killer cell differentiation	ISS
GO:0032826	Process	Regulation of natural killer cell differentiation involved in immune response	ISS
GO:0033082	Process	Regulation of extrathymic T cell differentiation	ISS
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	26179882
GO:0051136	Process	Regulation of NK T cell differentiation	ISS
GO:0051239	Process	Regulation of multicellular organismal process	IEA
GO:1904637	Process	Cellular response to ionomycin	IDA	26179882
GO:1990841	Function	Promoter-specific chromatin binding	ISS

MIM	HGNC	e!Ensembl
616775	28495	ENSG00000176083

Q8IZ20

Protein name

Tissue-resident T-cell transcription regulator protein ZNF683 (Homolog of Blimp-1 in T-cell) (Hobit) (Zinc finger protein 683)

Protein function

Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T-cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negativ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	322 → 344	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	350 → 372	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	401 → 420	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in terminally differentiated effector CD8(+) T-cells, but not in naive and central memory cells (PubMed:26179882). Expressed in terminally differentiated natural killer (NK) cells and natural killer (NKT) T-cells (at protein

Sequence

MKEESAAQLGCCHRPMALGGTGGSLSPSLDFQLFRGDQVFSACRPLPDMVDAHGPSCASW
LCPLPLAPGRSALLACLQDLDLNLCTPQPAPLGTDLQGLQEDALSMKHEPPGLQASSTDD
KKFTVKYPQNKDKLGKQPERAGEGAPCPAFSSHNSSSPPPLQNRKSPSPLAFCPCPPVNS
ISKELPFLLHAFYPGYPLLLPPPHLFTYGALPSDQCPHLLMLPQDPSYPTMAMPSLLMMV
NELGHPSARWETLLPYPGAFQASGQALPSQARNPGAGAAPTDSPGLERGGMASPAKRVPL
SSQTGTAALPYPLKKKNGKILYECNICGKSFGQLSNLKVHLRVHSGERPFQCALCQKSFT
QLAHLQKHHLVHTGERPHKCSIPWVPGRNHWKSFQAWREREVCHKRFSSSSNLKTHLRLH
SGARPFQCSVCRSRFTQHIHLKLHHRLHAPQPCGLVHTQLPLASLACLAQWHQGALDLMA
VASEKHMGYDIDEVKVSSTSQGKARAVSLSSAGTPLVMGQDQNN

Sequence length

524

Interactions

View interactions

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	35817785, 36869093	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genomic Instability	Associate	35817785	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kotzot Richter syndrome	Associate	37738974	★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Associate	37522383	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	36245253	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Associate	37522383	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	37098551	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	36869093, 37683037, 37738974	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	37683037	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	29553098	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZNF683 (zinc finger protein 683)