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LRRC72 leucine rich repeat containing 72 [ Homo sapiens (human) ]

Gene ID: 100506049, updated on 8-Mar-2024

Summary

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Official Symbol
LRRC72provided by HGNC
Official Full Name
leucine rich repeat containing 72provided by HGNC
Primary source
HGNC:HGNC:42972
See related
Ensembl:ENSG00000205858 AllianceGenome:HGNC:42972
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
FAP279; CFAP279
Expression
Restricted expression toward testis (RPKM 1.2) See more
Orthologs
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Genomic context

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See LRRC72 in Genome Data Viewer
Location:
7p21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16526825..16581568)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16656531..16711287)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (16566450..16621193)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CDP-L-ribitol pyrophosphorylase A Neighboring gene NANOG hESC enhancer GRCh37_chr7:16254865-16255366 Neighboring gene CRPPA antisense RNA 1 Neighboring gene MPRA-validated peak6411 silencer Neighboring gene uncharacterized LOC105375168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17982 Neighboring gene sclerostin domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:16541518-16542018 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16551577-16552078 Neighboring gene uncharacterized LOC105375169 Neighboring gene ataxin 2 like pseudogene Neighboring gene ankyrin repeat and MYND domain containing 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  2. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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)

Genotypes

General gene information

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Homology

General protein information

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Preferred Names
leucine-rich repeat-containing protein 72
Names
leucine-rich repeat-containing protein ENSP00000371558

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)

  1. NM_001195280.2 → NP_001182209.1  leucine-rich repeat-containing protein 72

    See identical proteins and their annotated locations for NP_001182209.1

    Status: VALIDATED

    Source sequence(s)
    AC005014, AW341438, BF222754, DT932641, DT932642
    Consensus CDS
    CCDS56464.1
    UniProtKB/Swiss-Prot
    A6NJI9
    Related
    ENSP00000384971.2, ENST00000401542.3
    Conserved Domains (3) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:91 → 128
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:91 → 149
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    16526825..16581568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515057.2 → XP_011513359.1  leucine-rich repeat-containing protein 72 isoform X1

    Conserved Domains (3) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:91 → 128
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:91 → 149
    LRR_8; Leucine rich repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    16656531..16711287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356976.1 → XP_054212951.1  leucine-rich repeat-containing protein 72 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NJI9.2 GenPept UniProtKB/Swiss-Prot:A6NJI9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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