DYNC2I1 dynein 2 intermediate chain 1 [ Homo sapiens (human) ]

Gene ID: 55112, updated on 27-Sep-2025

Summary

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Official Symbol: DYNC2I1provided by HGNC
Official Full Name: dynein 2 intermediate chain 1provided by HGNC
Primary source: HGNC:HGNC:21862
See related: Ensembl:ENSG00000126870 MIM:615462; AllianceGenome:HGNC:21862
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DIC6; SRPS6; SRTD8; WDR60; FAP163; CFAP163
Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
Expression: Broad expression in testis (RPKM 15.3), fat (RPKM 3.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

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See DYNC2I1 in Genome Data Viewer

Location:: 7q36.3

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (158839245..158958698)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (160062945..160186808)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (158631936..158738880)

Chromosome 7 - NC_000007 VSports最新版本. 14 .

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence: NC_000007. 14 Chromosome 7 Reference GRCh38. p14 Primary Assembly NG_034051. 2 RefSeqGene NC_060931 V体育平台登录. 1 Chromosome 7 Alternate T2T-CHM13v2. 0 NC_000007. 13 Chromosome 7 Reference GRCh37. p13 Primary Assembly .

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VSports - Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WDR60 plays a major role and TCTEX1D2 plays an auxiliary role in the dynein-2 complex to mediate retrograde ciliary protein trafficking.
Title: Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking.
loss of function of dynein-2 WDR34 and WDR60 subunits leads to defects in transition zone architecture, as well as intraflagellar transport.
Title: Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function.
Our finding broadens the spectrum of WDR60-related phenotypes and shows the utility of broad multigene panels during the genetic work-up of patients with ciliopathies.
Title: Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
"V体育平台登录" exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome
Title: New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.
These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis.
Title: Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

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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

"V体育安卓版" Associated conditions

Description	Tests
Desbuquois dysplasia 2 MedGen: C4014294 OMIM: 615777 GeneReviews: Not available	Compare labs
Short-rib thoracic dysplasia 8 with or without polydactyly MedGen: C3809691 OMIM: 615503 GeneReviews: Not available	Compare labs

V体育官网入口 - EBI GWAS Catalog

Description
Identification of ten loci associated with height highlights new biological pathways in human growth. EBI GWAS Catalog EBI GWAS CatalogPubMed

"VSports最新版本" Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions (V体育安卓版)

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65943 (e-PCR)
- "VSports手机版" UniSTS:8573

GDB:1317300 (e-PCR)
- "V体育官网" UniSTS:36000

RH65189 (e-PCR)
- UniSTS:91825

Homology (V体育平台登录)

NCBI Orthologs (V体育官网入口)

Orthologs from OrthoDB

Clone Names

FLJ10300, FLJ23575

Gene Ontology (VSports手机版) Provided by GOA

Function	Evidence Code	Pubs
enables dynein heavy chain binding	IEA Inferred from Electronic Annotation more info
enables dynein light chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein light chain binding	IEA Inferred from Electronic Annotation more info
enables dynein light chain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary retrograde transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intraciliary transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info
colocalizes_with ciliary base	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with ciliary base	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary base	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary tip	TAS Traceable Author Statement more info
located_in cilium	IDA Inferred from Direct Assay more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cilium	TAS Traceable Author Statement more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
part_of cytoplasmic dynein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of cytoplasmic dynein complex	IDA Inferred from Direct Assay more info	PubMed
part_of cytoplasmic dynein complex	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular space	HDA more info	PubMed
colocalizes_with interphase microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with interphase microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
is_active_in pericentriolar material	IBA Inferred from Biological aspect of Ancestor more info
located_in pericentriolar material	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with spindle pole	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytoplasmic dynein 2 intermediate chain 1

Names: WD repeat domain 60; WD repeat-containing protein 60; testicular secretory protein Li 66

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds VSports. 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 VSports app下载. .

Genomic

NG_034051.2 RefSeqGene

Range

22314..111945

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350914. 2 → NP_001337843 V体育官网. 1 cytoplasmic dynein 2 intermediate chain 1 isoform b.

Status: REVIEWED

Source sequence(s)

AC004863, AC124833

Conserved Domains (3) summary

COG2319
Location:581 → 971

WD40; WD40 repeat [General function prediction only]

sd00039
Location:599 → 627

7WD40; WD40 repeat [structural motif]

cl26511
Location:5 → 289

Neuromodulin_N; Gap junction protein N-terminal region
NM_001350915. 2 → NP_001337844 VSports手机版. 1 cytoplasmic dynein 2 intermediate chain 1 isoform c.

Status: REVIEWED

Source sequence(s)

AC004863, AC124833

Conserved Domains (2) summary

COG2319
Location:436 → 826

WD40; WD40 repeat [General function prediction only]

sd00039
Location:454 → 482

7WD40; WD40 repeat [structural motif]
NM_001350916.2 → NP_001337845.1 cytoplasmic dynein 2 intermediate chain 1 isoform d

Status: REVIEWED

Source sequence(s)

AC004863, AC124833

UniProtKB/TrEMBL

A4D230

Conserved Domains (2) summary

COG2319
Location:140 → 530

WD40; WD40 repeat [General function prediction only]

sd00039
Location:426 → 462

7WD40; WD40 repeat [structural motif]
NM_001350917.2 → NP_001337846.1 cytoplasmic dynein 2 intermediate chain 1 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variant 6, encodes isoform e.

Source sequence(s)

AC004863, AC124833

UniProtKB/TrEMBL

A4D230

Conserved Domains (2) summary

COG2319
Location:211 → 601

WD40; WD40 repeat [General function prediction only]

sd00039
Location:497 → 533

7WD40; WD40 repeat [structural motif]
NM_001350918.2 → NP_001337847.1 cytoplasmic dynein 2 intermediate chain 1 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variant 5, encodes isoform e.

Source sequence(s)

AC004863, AC124833

UniProtKB/TrEMBL

A4D230

Conserved Domains (2) summary

COG2319
Location:211 → 601

WD40; WD40 repeat [General function prediction only]

sd00039
Location:497 → 533

7WD40; WD40 repeat [structural motif]
NM_018051.5 → NP_060521.4 cytoplasmic dynein 2 intermediate chain 1 isoform a

See identical proteins and their annotated locations for NP_060521.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC124833, AL137660, BC014491, BM718580, DB072968

Consensus CDS

CCDS47757.1

UniProtKB/Swiss-Prot

Q8WVS4, Q9NW58

UniProtKB/TrEMBL

A0A140VK66

Related

ENSP00000384290.3, ENST00000407559.8

Conserved Domains (3) summary

PTZ00121
Location:5 → 453

PTZ00121; MAEBL; Provisional

COG2319
Location:627 → 1017

WD40; WD40 repeat [General function prediction only]

sd00039
Location:645 → 673

7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

158839245..158958698

Download

"VSports最新版本" GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420560.1 → XP_047276516.1 cytoplasmic dynein 2 intermediate chain 1 isoform X1
XM_006716041.3 (V体育ios版) → XP_006716104.1 cytoplasmic dynein 2 intermediate chain 1 isoform X3

Related

ENSP00000530870.1, ENST00000860811.1

Conserved Domains (3) summary

COG2319
Location:630 → 1020

WD40; WD40 repeat [General function prediction only]

sd00039
Location:648 → 676

7WD40; WD40 repeat [structural motif]

cl02567
Location:915 → 987

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_017012382.2 → XP_016867871.1 cytoplasmic dynein 2 intermediate chain 1 isoform X8

Related

ENSP00000631409.1, ENST00000961350.1
XM_047420556.1 → XP_047276512.1 cytoplasmic dynein 2 intermediate chain 1 isoform X2
XM_047420555.1 → XP_047276511.1 cytoplasmic dynein 2 intermediate chain 1 isoform X1
XM_047420558.1 → XP_047276514.1 cytoplasmic dynein 2 intermediate chain 1 isoform X6
XM_047420559.1 → XP_047276515.1 cytoplasmic dynein 2 intermediate chain 1 isoform X7
XM_011516369.3 → XP_011514671.1 cytoplasmic dynein 2 intermediate chain 1 isoform X1

Conserved Domains (3) summary

COG2319
Location:584 → 974

WD40; WD40 repeat [General function prediction only]

sd00039
Location:602 → 630

7WD40; WD40 repeat [structural motif]

cl02567
Location:869 → 941

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_011516367.3 (V体育ios版) → XP_011514669.1 cytoplasmic dynein 2 intermediate chain 1 isoform X4

Conserved Domains (3) summary

COG2319
Location:630 → 1020

WD40; WD40 repeat [General function prediction only]

sd00039
Location:648 → 676

7WD40; WD40 repeat [structural motif]

cl02567
Location:915 → 987

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
V体育安卓版 - XM_047420557.1 → XP_047276513.1 cytoplasmic dynein 2 intermediate chain 1 isoform X5
XM_017012381.3 → XP_016867870.1 cytoplasmic dynein 2 intermediate chain 1 isoform X1

Conserved Domains (3) summary

COG2319
Location:584 → 974

WD40; WD40 repeat [General function prediction only]

sd00039
Location:602 → 630

7WD40; WD40 repeat [structural motif]

cl02567
Location:869 → 941

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
"VSports注册入口" XM_047420561.1 → XP_047276517.1 cytoplasmic dynein 2 intermediate chain 1 isoform X9
XM_047420563.1 → XP_047276519.1 cytoplasmic dynein 2 intermediate chain 1 isoform X10

UniProtKB/TrEMBL

A4D230
XM_047420562.1 → XP_047276518.1 cytoplasmic dynein 2 intermediate chain 1 isoform X11

UniProtKB/TrEMBL

A4D230
"VSports" XM_017012388.2 → XP_016867877.1 cytoplasmic dynein 2 intermediate chain 1 isoform X10

UniProtKB/TrEMBL

A4D230

Conserved Domains (2) summary

COG2319
Location:140 → 530

WD40; WD40 repeat [General function prediction only]

sd00039
Location:426 → 462

7WD40; WD40 repeat [structural motif]

RNA

XR_007060058.1 RNA Sequence
VSports app下载 - XR_007060061.1 RNA Sequence
XR_007060060.1 RNA Sequence
XR_007060057.1 RNA Sequence
XR_007060062.1 RNA Sequence
XR_007060059.1 RNA Sequence
XR_007060063.1 RNA Sequence
XR_007060064.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

160062945..160186808

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054358564.1 → XP_054214539.1 cytoplasmic dynein 2 intermediate chain 1 isoform X1
"V体育安卓版" XM_054358557.1 → XP_054214532.1 cytoplasmic dynein 2 intermediate chain 1 isoform X3
XM_054358565.1 → XP_054214540.1 cytoplasmic dynein 2 intermediate chain 1 isoform X8
XM_054358556.1 → XP_054214531.1 cytoplasmic dynein 2 intermediate chain 1 isoform X2
V体育安卓版 - XM_054358555.1 → XP_054214530.1 cytoplasmic dynein 2 intermediate chain 1 isoform X1
XM_054358560.1 → XP_054214535.1 cytoplasmic dynein 2 intermediate chain 1 isoform X6
XM_054358561.1 → XP_054214536.1 cytoplasmic dynein 2 intermediate chain 1 isoform X7
XM_054358558.1 (VSports注册入口) → XP_054214533.1 cytoplasmic dynein 2 intermediate chain 1 isoform X4
XM_054358559.1 → XP_054214534.1 cytoplasmic dynein 2 intermediate chain 1 isoform X5
XM_054358563.1 → XP_054214538.1 cytoplasmic dynein 2 intermediate chain 1 isoform X1
XM_054358562.1 → XP_054214537.1 cytoplasmic dynein 2 intermediate chain 1 isoform X1
XM_054358566.1 → XP_054214541.1 cytoplasmic dynein 2 intermediate chain 1 isoform X9
VSports - XM_054358567.1 → XP_054214542.1 cytoplasmic dynein 2 intermediate chain 1 isoform X10

UniProtKB/TrEMBL

A4D230
VSports最新版本 - XM_054358568.1 → XP_054214543.1 cytoplasmic dynein 2 intermediate chain 1 isoform X10

UniProtKB/TrEMBL

A4D230