ZKSCAN2 zinc finger with KRAB and SCAN domains 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZKSCAN2provided by HGNC
Official Full Name: zinc finger with KRAB and SCAN domains 2provided by HGNC
Primary source: HGNC:HGNC:25677
See related: Ensembl:ENSG00000155592 AllianceGenome:HGNC:25677
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
Also known as: ZNF694; ZSCAN31; ZSCAN34
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 3.7), ovary (RPKM 2.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (25236001..25257845, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (25515492..25537336, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (25247322..25269166, complement)

Chromosome 16 - NC_000016.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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Markers

AB052171 (e-PCR)
- UniSTS:480256

SHGC-60667 (e-PCR)
- UniSTS:28884

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	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 molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger protein with KRAB and SCAN domains 2

Names: zinc finger and SCAN domain containing 31; zinc finger protein 694

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_001012981.5 → NP_001012999.3 zinc finger protein with KRAB and SCAN domains 2

See identical proteins and their annotated locations for NP_001012999.3

Status: VALIDATED

Source sequence(s)

AC008741, BC130007, BX648785, DB120548

Consensus CDS

CCDS32410.1

UniProtKB/Swiss-Prot

A1L3B4, Q63HK3, Q6ZN77

UniProtKB/TrEMBL

B4E0P9

Related

ENSP00000331626.7, ENST00000328086.12

Conserved Domains (9) summary

smart00431
Location:41 → 148

SCAN; leucine rich region

cd07765
Location:227 → 268

KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

smart00349
Location:248 → 289

KRAB; krueppel associated box

COG5048
Location:771 → 957

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

sd00017
Location:777 → 797

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:831 → 853

zf-C2H2; Zinc finger, C2H2 type

pfam02023
Location:41 → 129

SCAN; SCAN domain

pfam13465
Location:789 → 813

zf-H2C2_2; Zinc-finger double domain

pfam13837
Location:497 → 578

Myb_DNA-bind_4; Myb/SANT-like DNA-binding domain