Format

Send to:

Choose Destination

RFLNA refilin A [ Homo sapiens (human) ]

Gene ID: 144347, updated on 18-Aug-2020

Summary

Official Symbol
RFLNAprovided by HGNC
Official Full Name
refilin Aprovided by HGNC
Primary source
HGNC:HGNC:27051
See related
Ensembl:ENSG00000178882 MIM:615927
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
CFM2; FAM101A
Expression
Biased expression in stomach (RPKM 48.3), colon (RPKM 10.5) and 2 other tissues See more
Orthologs

Genomic context

See RFLNA in Genome Data Viewer
Location:
12q24.31
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (124289164..124316024)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124773710..124800570)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 10 Neighboring gene ZNF664-RFLNA readthrough Neighboring gene coiled-coil domain containing 92 Neighboring gene zinc finger protein 664 Neighboring gene microRNA 6880 Neighboring gene nuclear receptor corepressor 2 Neighboring gene Sharpr-MPRA regulatory region 11802

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough ZNF664-RFLNA

Readthrough gene: ZNF664-RFLNA, Included gene: ZNF664

Homology

Clone Names

  • FLJ44614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
filamin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament bundle organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of bone mineralization involved in bone maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of chondrocyte development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal system morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
actin filament bundle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
refilin-A
Names
family with sequence similarity 101, member A
filamin-interacting protein FAM101A
protein FAM101A
refilinA
regulator of filamin protein A

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001365156.1NP_001352085.1  refilin-A isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC073916, AK126577, BC026875, BC042102
    Related
    ENSP00000444080.2, ENST00000546355.4
    Conserved Domains (1) summary
    pfam15068
    Location:1203
    FAM101; FAM101 family
  2. NM_181709.5NP_859060.3  refilin-A isoform 2

    See identical proteins and their annotated locations for NP_859060.3

    Status: VALIDATED

    Source sequence(s)
    AK126577, BC026875, BC141805
    Consensus CDS
    CCDS9258.1
    UniProtKB/Swiss-Prot
    Q6ZTI6
    Related
    ENSP00000315626.3, ENST00000324038.6
    Conserved Domains (1) summary
    pfam15068
    Location:1122
    FAM101; FAM101 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    124289164..124316024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center