Format

Send to:

Choose Destination

SLC49A4 solute carrier family 49 member 4 [ Homo sapiens (human) ]

Gene ID: 84925, updated on 11-Jun-2021

Summary

Official Symbol
SLC49A4provided by HGNC
Official Full Name
solute carrier family 49 member 4provided by HGNC
Primary source
HGNC:HGNC:16628
See related
Ensembl:ENSG00000138463 MIM:602773
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RCC4; DIRC2
Summary
This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in skin (RPKM 3.9), placenta (RPKM 3.3) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SLC49A4 in Genome Data Viewer
Location:
3q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (122795058..122892157)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122513916..122599986)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene poly(ADP-ribose) polymerase family member 14 Neighboring gene HSPB1 associated protein 1 Neighboring gene long intergenic non-protein coding RNA 2035 Neighboring gene semaphorin 5B Neighboring gene uncharacterized LOC112268448 Neighboring gene protein disulfide isomerase family A member 5 Neighboring gene microRNA 7110

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14784

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 49 member 4
Names
disrupted in renal cancer protein 2
disrupted in renal carcinoma 2
renal cell carcinoma 4

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_023324.1 RefSeqGene

    Range
    5001..91086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032839.3NP_116228.1  solute carrier family 49 member 4

    See identical proteins and their annotated locations for NP_116228.1

    Status: REVIEWED

    Source sequence(s)
    AC048348, AC078794
    Consensus CDS
    CCDS3018.1
    UniProtKB/Swiss-Prot
    Q96SL1
    Related
    ENSP00000261038.5, ENST00000261038.6
    Conserved Domains (2) summary
    cd06174
    Location:66449
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:69425
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    122795058..122892157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001740333.2 RNA Sequence

Support Center