DYNC2H1

Chr 11q22.3

dynein cytoplasmic 2 heavy chain 1

Aliases:: hdhc11, DHC2, DHC1b, DYH1B
MANE:: ENST00000375735.7

OMIM: 603297 ↗NCBI: 79659 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DYNC2H1 · Q8NCM8-3isoform

No predicted structure exists for the canonical Q8NCM8 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for DYNC2H1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.4/ 100

Confident

920 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)57%
Low(50–70)10%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

asphyxiating thoracic dystrophy 3
0.86
Jeune syndrome
0.72
Short rib-polydactyly syndrome, Verma-Naumoff type
0.71
short rib-polydactyly syndrome, Majewski type
0.69
autosomal recessive retinitis pigmentosa
0.46
Retinal dystrophy
0.44
Narrow chest
0.44
short-rib thoracic dysplasia 6 with or without polydactyly
0.43
fetal growth restriction
0.43
Bowing of the long bones
0.43

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytoplasmic dynein 2 heavy chain 1

May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity)