ZNF664-RFLNA ZNF664-RFLNA readthrough [Homo sapiens (human)] - Gene

Summary

Gene symbol: ZNF664-RFLNA
Gene description: ZNF664-RFLNA readthrough
See related: Ensembl:ENSG00000178882
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: This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 664 (Gene ID: 144348) and refilin A (Gene ID: 144347) genes on chromosome 12. The read-through transcript produces a protein that shares sequence identity with the downstream refilin A gene product. [provided by RefSeq, Dec 2016]
Expression: Biased expression in stomach (RPKM 44.0), colon (RPKM 10.7) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 12q24.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (123973215..124316024)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (123974731..124318372)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (124457762..124800570)

Chromosome 12 - NC_000012.12 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

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies new disease loci for isolated clubfoot. EBI GWAS Catalog EBI GWAS CatalogPubMed
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 filamin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament bundle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of bone mineralization involved in bone maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of chondrocyte development	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal system morphogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in actin filament bundle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: refilin-A

Names: ZNF664-FAM101A readthrough; filamin-interacting protein FAM101A; regulator of filamin protein A

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_001204299.3 → NP_001191228.1 refilin-A

See identical proteins and their annotated locations for NP_001191228.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC068790, AC073916, DA169732

UniProtKB/Swiss-Prot

Q6ZTI6

Related

ENSP00000374377.4, ENST00000389727.8

Conserved Domains (1) summary

pfam15068
Location:1 → 122

FAM101; FAM101 family
NM_001347902.2 → NP_001334831.1 refilin-A

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC026358, AC068790, AC073916

UniProtKB/Swiss-Prot

Q6ZTI6

Conserved Domains (1) summary

pfam15068
Location:1 → 122

FAM101; FAM101 family