U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SPRYD7 SPRY domain containing 7 [ Homo sapiens (human) ]

Gene ID: 57213, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
SPRYD7provided by HGNC
Official Full Name
SPRY domain containing 7provided by HGNC
Primary source
HGNC:HGNC:14297
See related
Ensembl:ENSG00000123178 MIM:607866; AllianceGenome:HGNC:14297
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
CLLD6; C13orf1
Expression
Ubiquitous expression in lung (RPKM 5.0), brain (RPKM 4.9) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
13q14.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (49912702..49936340, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (49133330..49156970, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (50486838..50510476, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene CTAGE family member 10, pseudogene Neighboring gene RNY4 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7756 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:50546741-50546933 Neighboring gene Sharpr-MPRA regulatory region 13323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5351 Neighboring gene deleted in lymphocytic leukemia 2 Neighboring gene microRNA 3613 Neighboring gene tripartite motif containing 13 Neighboring gene potassium channel regulator

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Down-regulation of candidate tumor suppressor genes within chromosome band 13q14.3 is independent of the DNA methylation pattern in B-cell chronic lymphocytic leukemia. Mertens D, et al. Blood, 2002 Jun 1. PMID 12010815
  2. [Transcription map of the 13q14 region, frequently deleted in B-cell chronic lymphocytic leukemia patients]. Tiazhelova TV, et al. Genetika, 2001 Nov. PMID 11771308
  3. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. Ng MCY, et al. PLoS Genet, 2017 Apr. PMID 28430825, Free PMC Article
  4. Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. Mabuchi H, et al. Cancer Res, 2001 Apr 1. PMID 11306461
  5. Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific. Zouboulis CC, et al. J Eur Acad Dermatol Venereol, 2020 Jul. PMID 32031713

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional Proteomics Characterization of the Role of SPRYD7 in Colorectal Cancer Progression and Metastasis.
    Title: Functional Proteomics Characterization of the Role of SPRYD7 in Colorectal Cancer Progression and Metastasis.
  2. In the sex-combined analyses, we identified one novel locus (TCF7L2/HABP2) for WHRadjBMI and eight previously established loci at P < 5x10-8: seven for BMI, and one for WHRadjBMI in African ancestry individuals. An additional novel locus (SPRYD7/DLEU2) was identified for WHRadjBMI when combined with European GWAS.
    Title: Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
SPRY domain-containing protein 7
Names
CLL deletion region gene 6 protein
chronic lymphocytic leukemia deletion region gene 6 protein
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001127482.3 → NP_001120954.1  SPRY domain-containing protein 7 isoform 2

    See identical proteins and their annotated locations for NP_001120954.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) omits an in-frame coding exon resulting in a shorter protein isoform (2) compared to isoform 1.
    Source sequence(s)
    AF334405, AK290576, BM684781
    Consensus CDS
    CCDS45046.1
    UniProtKB/TrEMBL
    B2RE68
    Related
    ENSP00000367437.2, ENST00000378195.6
    Conserved Domains (1) summary
    cd12880
    Location:8 → 157
    SPRYD7; SPRY domain-containing protein 7

  2. NM_020456.4 → NP_065189.1  SPRY domain-containing protein 7 isoform 1

    See identical proteins and their annotated locations for NP_065189.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the predicted full length protein isoform (1).
    Source sequence(s)
    AF055016, AF334405, BC022519, BM684781, DN992366
    Consensus CDS
    CCDS9422.1
    UniProtKB/Swiss-Prot
    A8K3G1, O60648, Q5W111, Q8TBG8, Q96T69
    UniProtKB/TrEMBL
    A0A024RDT6, B2RE68
    Related
    ENSP00000354774.3, ENST00000361840.8
    Conserved Domains (1) summary
    cd12880
    Location:35 → 196
    SPRYD7; SPRY domain-containing protein 7

RNA

  1. NR_023351.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) omits two coding exons resulting in a frameshift and premature stop codon. The transcript is predicted to be a candidate for nonsense-mediated decay.
    Source sequence(s)
    AF334405, BM684781, DA388141, DN992366

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    49912702..49936340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_007063693.1 RNA Sequence

  2. XR_007063694.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    49133330..49156970 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008488777.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5W111.2 GenPept UniProtKB/Swiss-Prot:Q5W111

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous