About   Help   FAQ
Ift56 Gene Detail
Summary
  • Symbol
    Ift56
  • Name
    intraflagellar transport 56
  • Synonyms
    9430097H08Rik, hop, hpy, hydrocephalic-polydactyl, Ttc26
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444853
    NCBI Gene: 264134
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:38358404-38404582 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 17.76 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    204 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444853
 protein coding gene Chr6:38358400-38404582 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030585
 protein coding gene Chr6:36685287-36739523 (+)
A/J MGP_AJ_G0030558
 protein coding gene Chr6:35091769-35138677 (+)
AKR/J MGP_AKRJ_G0030485
 protein coding gene Chr6:36207403-36258207 (+)
BALB/cJ MGP_BALBcJ_G0030568
 protein coding gene Chr6:35289545-35336243 (+)
C3H/HeJ MGP_C3HHeJ_G0030281
 protein coding gene Chr6:36216216-36267476 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031022
 protein coding gene Chr6:37602262-37655901 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028234
 protein coding gene Chr6:33000220-33045165 (+)
CAST/EiJ MGP_CASTEiJ_G0029683
 protein coding gene Chr6:36108216-36163660 (+)
CBA/J MGP_CBAJ_G0030259
 protein coding gene Chr6:39060698-39111981 (+)
DBA/2J MGP_DBA2J_G0030403
 protein coding gene Chr6:34911332-34957631 (+)
FVB/NJ MGP_FVBNJ_G0030357
 protein coding gene Chr6:34699783-34747091 (+)
LP/J MGP_LPJ_G0030490
 protein coding gene Chr6:36727704-36776017 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030393
 protein coding gene Chr6:41421879-41483736 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031052
 protein coding gene Chr6:36137989-36189136 (+)
PWK/PhJ MGP_PWKPhJ_G0029397
 protein coding gene Chr6:34560853-34611253 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029233
 protein coding gene Chr6:35860273-35915676 (+)
WSB/EiJ MGP_WSBEiJ_G0029759
 protein coding gene Chr6:36079738-36128910 (+)



Homology
more
  • Human Ortholog
    IFT56, intraflagellar transport 56
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    IFT56, intraflagellar transport 56
  • Synonyms
    BRENS, dyf-13, DYF13, TTC26
  • Links
    NCBI Gene ID: 79989
    neXtProt AC: NX_A0AVF1
    UniProt: A0AVF1

  • Chr Location
    7q34; chr7:139133744-139191986 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 3 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a spontaneous nonsense mutation exhibit partial prenatal lethality, a hopping gait, preaxial polydactyly, male sterility due to lack of sperm flagella, impaired hearing, and patterning defects that are typical of impaired Hedgehog signaling.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    708
  • Tissues
    1
  • cDNA Data
    35
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000056832 Ensembl Gene Model | MGI Sequence Detail 46179 C57BL/6J ±  kb
    transcript ENSMUST00000162554 Ensembl | MGI Sequence Detail 4195 Not Applicable  
    polypeptide ENSMUSP00000124369 Ensembl | MGI Sequence Detail 554 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 35

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10813, MGD-MRK-10927, MGI:96168
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 2
      Gene Ontology 14
      Phenotypes 15
    • Earliest
      J:5206 Johnson DR, et al., Hop-sterile, a mutant gene affecting sperm tail development in the mouse. J Embryol Exp Morphol. 1971 Apr;25(2):223-36
    • Latest
      J:321845 Bernhardt N, et al., Hop Mice Display Synchronous Hindlimb Locomotion and a Ventrally Fused Lumbar Spinal Cord Caused by a Point Mutation in Ttc26. eNeuro. 2022 Mar-Apr;9(2):ENEURO.0518-21.2022
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory