Fields »
ABOUT
HELP
BLOG
IFT172

GENERAL INFORMATION

Gene name

 IFT172

Gene description

 Intraflagellar transport 172

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. Pending external verification. Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA044893
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 IFT172 (HGNC Symbol)

Synonyms

 NPHP17, osm-1, SLB, wim

Description

 Intraflagellar transport 172 (HGNC Symbol)

Entrez gene summary

 This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]

Chromosome

 2

Cytoband

 p23.3

Chromosome location (bp)

 27444371 - 27489789

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000138002 (version 83.38)

Entrez gene

 26160

UniProt

 Q9UG01 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UG01

Antibodypedia

 IFT172 antibodies

PROTEIN BROWSER
IFT172-001
IFT172-004
IFT172-005
IFT172-012

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
IFT172-001
ENSP00000260570
ENST00000260570
Q9UG01 [Direct mapping]
Intraflagellar transport protein 172 homolog
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001841 [neural tube formation]
GO:0001843 [neural tube closure]
GO:0001947 [heart looping]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0006996 [organelle organization]
GO:0007219 [Notch signaling pathway]
GO:0007224 [smoothened signaling pathway]
GO:0007368 [determination of left/right symmetry]
GO:0007420 [brain development]
GO:0007507 [heart development]
GO:0008544 [epidermis development]
GO:0008589 [regulation of smoothened signaling pathway]
GO:0009953 [dorsal/ventral pattern formation]
GO:0016485 [protein processing]
GO:0021522 [spinal cord motor neuron differentiation]
GO:0021915 [neural tube development]
GO:0030992 [intraciliary transport particle B]
GO:0031122 [cytoplasmic microtubule organization]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0045880 [positive regulation of smoothened signaling pathway]
GO:0050680 [negative regulation of epithelial cell proliferation]
GO:0060021 [palate development]
GO:0060173 [limb development]
GO:0060271 [cilium morphogenesis]
GO:0060348 [bone development]
GO:0061525 [hindgut development]
GO:0070986 [left/right axis specification]
GO:0072372 [primary cilium]
GO:0097225 [sperm midpiece]
GO:0097228 [sperm principal piece]
GO:0097542 [ciliary tip]
GO:0097598 [sperm cytoplasmic droplet]
GO:1903561 [extracellular vesicle]
Show all
 1749 aa
197.6 kDa 		No 0
IFT172-004
ENSP00000352443
ENST00000359466
Q9UG01 [Direct mapping]
Intraflagellar transport protein 172 homolog
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0006996 [organelle organization]
GO:0030992 [intraciliary transport particle B]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0072372 [primary cilium]
GO:0097542 [ciliary tip]
GO:1903561 [extracellular vesicle]
Show all
 532 aa
59.7 kDa 		No 0
IFT172-005
ENSP00000407408
ENST00000416524
F5GZ56 [Direct mapping]
Intraflagellar transport protein 172 homolog
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005930 [axoneme]
GO:0030992 [intraciliary transport particle B]
GO:0036064 [ciliary basal body]
Show all
 511 aa
57.4 kDa 		No 0
IFT172-012
ENSP00000404082
ENST00000443889
H7C252 [Direct mapping]
Intraflagellar transport protein 172 homolog
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005930 [axoneme]
GO:0030992 [intraciliary transport particle B]
GO:0036064 [ciliary basal body]
Show all
 196 aa
21.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.