DYNC2H1

GENERAL INFORMATION

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Gene name

DYNC2H1

Gene description

Dynein, cytoplasmic 2, heavy chain 1

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA039015 , HPA039016
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Fallopian tube



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

DYNC2H1 (HGNC Symbol)

Synonyms

DHC1b, DHC2, DNCH2, DYH1B, hdhc11

Description

Dynein, cytoplasmic 2, heavy chain 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

Chromosome

11

Cytoband

q22.3

Chromosome location (bp)

103109431 - 103479863

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187240 (version 78.38)

Entrez gene

79659

UniProt

Q8NCM8 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NCM8

Antibodypedia

DYNC2H1 antibodies


PROTEIN BROWSER

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ENST00000334267
 
ENST00000375735
 
ENST00000398093
 
ENST00000533197
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DYNC2H1-001 ENSP00000364887
ENST00000375735
Q8NCM8
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Show » Show » 4307 492.6 No 0
DYNC2H1-002 ENSP00000334021
ENST00000334267
Q8NCM8
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Show » Show » 920 105.4 No 0
DYNC2H1-005 ENSP00000381167
ENST00000398093
Q8NCM8
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Show » Show » 4314 493.4 No 0
DYNC2H1-007 ENSP00000436736
ENST00000533197
H0YEX1
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Show » Show » 224 25 No 0