TMEM67 (transmembrane protein 67)

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Gene: TMEM67 (transmembrane protein 67) Homo sapiens

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Symbol:

TMEM67

Name:

transmembrane protein 67

RGD ID:

1606753

HGNC Page

HGNC:28396

Description:

Enables filamin binding activity and unfolded protein binding activity. Involved in cilium assembly; negative regulation of centrosome duplication; and ubiquitin-dependent ERAD pathway. Located in several cellular components, including centrosome; ciliary membrane; and ciliary transition zone. Implicated in Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis 11.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

JBTS6; meckel syndrome type 3 protein; Meckel syndrome, type 3; meckelin; MGC26979; MKS3; NPHP11; TNEM67

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tmem67 (transmembrane protein 67)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tmem67 (transmembrane protein 67)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tmem67 (transmembrane protein 67)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TMEM67 (transmembrane protein 67)	NCBI	Ortholog
Canis lupus familiaris (dog):	TMEM67 (transmembrane protein 67)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tmem67 (transmembrane protein 67)	NCBI	Ortholog
Sus scrofa (pig):	TMEM67 (transmembrane protein 67)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TMEM67 (transmembrane protein 67)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tmem67 (transmembrane protein 67)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Tmem67 (transmembrane protein 67)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Tmem67 (transmembrane protein 67)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tmem67 (transmembrane protein 67)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG15923	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	mks-3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	93,754,844 - 93,832,653 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	8	93,754,844 - 93,819,234 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	94,767,072 - 94,831,466 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	94,836,321 - 94,898,323 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	90,953,124 - 91,017,521 (+)	NCBI		Celera
Cytogenetic Map	8	q22.1	NCBI
HuRef	8	89,974,594 - 90,039,048 (+)	NCBI		HuRef
CHM1_1	8	94,807,348 - 94,871,742 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	94,879,829 - 94,944,266 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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