ZNF649 zinc finger protein 649 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF649provided by HGNC
Official Full Name: zinc finger protein 649provided by HGNC
Primary source: HGNC:HGNC:25741
See related: Ensembl:ENSG00000198093 MIM:611903; AllianceGenome:HGNC:25741
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of osteoblast differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of DNA-templated transcription. Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in prostate (RPKM 9.0), thyroid (RPKM 4.4) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.41

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51889235..51905017, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54976430..54992212, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (52392488..52408270, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We detected African-specific SNPs at ZNF649 and LSAMP, with associations of genome-wide significance for ulcerative colitis.
Title: Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.
These results suggest that ZNF649 protein may act as a transcriptional repressor in mitogen-activated protein kinase signaling pathway to mediate cellular functions.
Title: ZNF649, a novel Kruppel type zinc-finger protein, functions as a transcriptional suppressor.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular space	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: zinc finger protein 649

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_023074.4 → NP_075562.2 zinc finger protein 649

See identical proteins and their annotated locations for NP_075562.2

Status: VALIDATED

Source sequence(s)

AC011460, AK315487, AL713677, DA782250

Consensus CDS

CCDS12843.1

UniProtKB/Swiss-Prot

A8MYJ5, B2RDC4, Q9BS31, Q9H9N2

Related

ENSP00000347043.2, ENST00000354957.8

Conserved Domains (5) summary

smart00349
Location:8 → 68

KRAB; krueppel associated box

COG5048
Location:260 → 321

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:264 → 284

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:8 → 47

KRAB; KRAB box

pfam13465
Location:389 → 413

zf-H2C2_2; Zinc-finger double domain