CHADL chondroadherin like [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHADLprovided by HGNC
Official Full Name: chondroadherin likeprovided by HGNC
Primary source: HGNC:HGNC:25165
See related: Ensembl:ENSG00000100399 MIM:616236; AllianceGenome:HGNC:25165
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: SLRR4B
Summary: Enables collagen binding activity and collagen fibril binding activity. Involved in negative regulation of collagen fibril organization. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 3.6), prostate (RPKM 1.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41229513..41240931, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (41702131..41715871, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41625517..41636935, complement)

Chromosome 22 - NC_000022.11 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?

Data show that a rare missense variant in the COMP gene (cartilage oligomeric matrix protein) and a frameshift variant in the CHADL gene (chondroadherin-like protein) strongly associate with osteoarthritis total hip replacement.
Title: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.
CHADL appears to have a negative regulatory role, possibly ensuring the formation of a stable extracellular matrix.
Title: The novel small leucine-rich protein chondroadherin-like (CHADL) is expressed in cartilage and modulates chondrocyte differentiation.

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
Biological insights from 108 schizophrenia-associated genetic loci. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of chondroadherin-like (CHADL) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G43605 (e-PCR)
- UniSTS:95040

D22S1539 (e-PCR)
- UniSTS:26256

D22S1539 (e-PCR)
- UniSTS:16382

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables collagen binding	IDA Inferred from Direct Assay more info	PubMed
enables collagen fibril binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent conferring compression resistance	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in negative regulation of chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of collagen fibril organization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: chondroadherin-like protein

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_138481.2 → NP_612490.1 chondroadherin-like protein precursor

See identical proteins and their annotated locations for NP_612490.1

Status: VALIDATED

Source sequence(s)

AL035681

Consensus CDS

CCDS46715.1

UniProtKB/Swiss-Prot

Q05CY2, Q4G0S0, Q5JY13, Q6NUI6, Q86XY1, Q96E60

UniProtKB/TrEMBL

H0Y4I5

Related

ENSP00000216241.9, ENST00000216241.14

Conserved Domains (6) summary

smart00013
Location:395 → 429

LRRNT; Leucine rich repeat N-terminal domain

smart00082
Location:675 → 723

LRRCT; Leucine rich repeat C-terminal domain

cd00116
Location:424 → 603

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:427 → 450

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:643 → 676

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:160 → 218

LRR_8; Leucine rich repeat