Tissue expression of CHRND - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	CHRND
Gene description	Cholinergic receptor, nicotinic, delta (muscle)
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Predicted secreted proteins Transporters
Predicted localization	Membrane,Secreted
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (skeletal muscle)
GTEx:	Tissue enriched (skeletal muscle)
FANTOM5:	Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)

GENE INFORMATION
Gene name	CHRND (HGNC Symbol)
Synonyms	ACHRD
Description	Cholinergic receptor, nicotinic, delta (muscle) (HGNC Symbol)
Entrez gene summary	The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Chromosome	2
Cytoband	q37.1
Chromosome location (bp)	232525993 - 232536667
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000135902 (version 83.38)
Entrez gene	1144
UniProt	Q07001 (UniProt - Evidence at protein level)
neXtProt	NX_Q07001
Antibodypedia	CHRND antibodies

PROTEIN BROWSER

CHRND-001	CHRND-003	CHRND-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CHRND-001 ENSP00000258385 ENST00000258385	Q07001 [Direct mapping] Acetylcholine receptor subunit delta Show all	Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0003009 [skeletal muscle contraction] GO:0004889 [acetylcholine-activated cation-selective channel activity] GO:0005230 [extracellular ligand-gated ion channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0005892 [acetylcholine-gated channel complex] GO:0006810 [transport] GO:0006811 [ion transport] GO:0006812 [cation transport] GO:0006936 [muscle contraction] GO:0007165 [signal transduction] GO:0007268 [synaptic transmission] GO:0007271 [synaptic transmission, cholinergic] GO:0007274 [neuromuscular synaptic transmission] GO:0015276 [ligand-gated ion channel activity] GO:0015464 [acetylcholine receptor activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0030054 [cell junction] GO:0034220 [ion transmembrane transport] GO:0035094 [response to nicotine] GO:0042166 [acetylcholine binding] GO:0042391 [regulation of membrane potential] GO:0043005 [neuron projection] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0048630 [skeletal muscle tissue growth] GO:0050877 [neurological system process] GO:0050881 [musculoskeletal movement] GO:0050905 [neuromuscular process] GO:0098655 [cation transmembrane transport] Show all	517 aa 58.9 kDa	Yes	4
CHRND-003 ENSP00000404950 ENST00000449596	C9JJV8 [Direct mapping] Acetylcholine receptor subunit delta Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Show all	GO:0005230 [extracellular ligand-gated ion channel activity] GO:0006810 [transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0034220 [ion transmembrane transport] Show all	172 aa 19.6 kDa	Yes	0
CHRND-201 ENSP00000438380 ENST00000543200	Q07001 [Direct mapping] Acetylcholine receptor subunit delta Show all	Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0005230 [extracellular ligand-gated ion channel activity] GO:0005886 [plasma membrane] GO:0006810 [transport] GO:0006811 [ion transport] GO:0006936 [muscle contraction] GO:0007165 [signal transduction] GO:0007268 [synaptic transmission] GO:0007271 [synaptic transmission, cholinergic] GO:0007274 [neuromuscular synaptic transmission] GO:0015464 [acetylcholine receptor activity] GO:0016020 [membrane] GO:0030054 [cell junction] GO:0035094 [response to nicotine] GO:0042166 [acetylcholine binding] GO:0042391 [regulation of membrane potential] GO:0043005 [neuron projection] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0048630 [skeletal muscle tissue growth] GO:0050877 [neurological system process] GO:0050881 [musculoskeletal movement] GO:0050905 [neuromuscular process] GO:0098655 [cation transmembrane transport] Show all	502 aa 57.1 kDa	Yes	4